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Mucopolysaccharide & Related DiseasesSociety Aust. Ltd |
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Past News and Eventsg Brisbane Conference 2006
ReportMucopolysaccharide & Related Diseases Society Aust. Ltd held their 11th National MPS Conference in Brisbane from 29 September to 1 October 2006. The conference brought together over 85 delegates from across Australia and New Zealand and two special guest speakers from the United Kingdom. Also in attendance at the conference were 46 children either affected with Mucopolysaccharidoses (MPS) or siblings of those affected. These children were looked after on their own specially designed program by 35 volunteer carers. The 11th National MPS conference theme was dedicated to forming and strengthening partnerships. The conference was about individuals who have MPS, families with children with MPS, friendships, happiness, sadness, much laughter and the sharing of advancement in research, treatments and information. Most importantly the conference was about the empowerment for all individuals and families in attendance whose everyday role is as a mother, a father, or a carer for these special people affected by MPS. MPS National conferences are very unique as they give those dealing with research and treatment a first hand chance to see the human side of the work they are doing. MPS conferences also provide a precious vehicle for individuals or parents to empower themselves by getting first hand knowledge from those with the most to give and to be able to take this knowledge back to their own local medical professionals. Families and individuals with MPS in attendance at this year’s conference benefited by having the opportunity to meet with other families or individuals with MPS, to share and discuss concerns and health issues and discuss ways to improve their life styles. The possibility of the inclusion of a chat room on the MPS Society’s web site was proposed, the committee of management will now look into this possibility so that families and individuals will be able to communicate frequently. Families and individuals with MPS were given ample opportunities to meet with professionals working in the field of MPS to discuss the latest advancement in research and treatment options that may be available to them to manage their child’s or own disorder. The children in attendance at the conference enjoyed the activities provided in the children’s program. They visited Movie Word and The Lone Pine Koala Sanctuary where they were all able to cuddle and be photographed with the koalas. Sunday morning was spent relaxing doing craft and painting followed by lunch at the local McDonalds Restaurant. Just a few photos of the conference have been posted below - See our Conference 2006 Photo Gallery for more photos.
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“Crossing Oceans for a Cure” benefit weekend saw families from Italy, America Venezuela, Canada and New Zealand present. Our speakers came from Australia, Belgium, Germany and America.
Photos: 1. Ashton Keddy I-Cell 2. David Sillence, Autumn Tobey and Kelly Crompton 3. Sergio and Maria Elena Cardenas 4. Zack Hagget, Andre Daniels, John Haggett, Marjory and Luis Catozzi (Click on any photo to see a larger copy)
On behalf of ISMRD, I want to thank the Australian MPS Society for their very generous support of Prof David Sillence.
Our conference was a huge success with 31 families attending, but for the first time ever in the History of Lysosomal diseases I am very proud to announce that we had 28 ML2 and ML3 families joining together on mass, with 3 families with Mannosidosis also present. We also had several families with MPS joining us and giving us their support.
For many of the ML families this was their first time in attending a conference of this nature and the first time they had ever met another ML family, and some of our families were newly diagnosed.. This meeting has seen the beginning of many friendships being made and much sharing of information. There were a lot of tears and much laughter. The isolation for ML families has finally been broken.
Our Drs did an incredible job. Prof Sillence arrived on Wednesday evening and spent all day Thursday seeing families and their children before making two presentations on Friday. Once again I saw him going far beyond the call of duty. I must also acknowledge the work of Drs LeRoy and Patterson. Many families commented on how accessible they were. These 3 men did an incredible job in seeing that each and every family went home with more information than they came with, and of course I cannot forget Stephan Tiede from Germany, and his work on Gene Mutations in ML, and the information and hope he has given all families with ML.
The feed back from the families has been absolutely incredible some of the comments are as follows.
Saturday 24th April saw the families heading off to ISMRD’s first ever major fundraiser. The day was cold in fact it started to snow, so there were very few walkers but people turned up just to register, pick up their tee shirts and leave their donations. How incredibly poignant that Penguins is our logo. The penguins had gathered in Michigan to raise funds for research only to have it snow.
If I was to pick one special moment in the whole weekend it would have to be all about the children. Seeing all our young ladies together just talking like normal girls was very special. Many of them are on Pamidronate and hearing them share how this drug has help them bought tears to my eyes. They were also very informative to other young ladies who have not yet started treatment. Some very special connections have been made with this group.
Language was no barrier for the children. Seeing Zack Haggett from America and Sergio Cardenas from Venezuela playing together are memories we will never forget.
The whole weekend has created many special moments for all the ML families, but I think for our Drs seeing so many ML children and young adults all together for the first time was an incredibly defining moment.
Stephan Tiede from Germany stated that we would continue in his work on Gene Mutations. Seeing all the children together made it all seem so real. He said he would no longer see the samples he works with as just samples.
ISMRD are unreadily grateful for the support given to this benefit weekend by the Australian MPS Society. It has given us the opportunity to raise awareness for these super orphan diseases and to raise much needed funds for research.
Jenny Noble Board Member ISMRD, The International Advocate for Glycoprotein Storage Disease |
Shire presents positive results of Hunter syndrome pivotal clinical trial at the American Society of Human Genetics Annual Meeting
Shire Pharmaceuticals Group announced 28 October at the Annual Meeting of The American Society of Human Genetics, further results of its pivotal clinical trial evaluating its investigational human enzyme replacement therapy, idursulfase, for the treatment of Hunter Syndrome.
The primary efficacy endpoint of the trial was a composite of two clinical measures – forced vital capacity (FVC) and 6-minute walk test (6MWT). As previously reported, patients receiving the weekly dosing regimen of 0.5 mg/kg of idursulfase showed a statistically significant difference (p=0.0049) compared to placebo. Results presented by Joseph Muenzer, M.D., Ph.D., of the University of North Carolina at Chapel Hill, indicated that patients receiving the every other week dosing regimen of idursulfase also showed a statistically significant difference (p=0.0416) compared to placebo when measuring the composite. Treatment with idursulfase was generally well-tolerated by patients in the trial.
Other results presented included urine GAG levels, liver and spleen volume, cardiac left ventricular volume, and joint range of motion.
Commenting on the trial results, Dr. Muenzer said “Data from this study are very
encouraging for patients and families living with Hunter syndrome. I am excited about the potential of idursulfase as the first treatment option for patients, once approved.”
As previously announced, Shire expects to file for regulatory approval of idursulfase in both the United States and Europe in the fourth quarter of 2005.
Trial Design
The AIM study (“Assessment of I2S in MPS II”) was a Phase II/III double-blind, placebo- controlled clinical trial conducted at nine sites around the world, including the United States, the United Kingdom, Germany and Brazil. The primary goal of the study was to evaluate the safety and efficacy of 0.5 mg/kg of idursulfase administered weekly compared to placebo. Additionally, the trial evaluated 0.5 mg/kg of idursulfase every other week compared to placebo. Ninety-six patients with Hunter syndrome were randomized to one of three groups with each patient receiving a total of 52 infusions of either idursulfase, idursulfase alternating weekly with placebo, or placebo. Of the 96 who enrolled, 94 completed the 52 week study and they all elected to participate in the open-label extension study of idursulfase at a dose of 0.5 mg/kg weekly.
Trial Results
Six minute walk test (6MWT)
In the weekly dosing regimen, the difference in meters walked was 35 meters compared to placebo (p=0.0131) and in the every other week idursulfase group, the difference in meters walked was 24 meters, compared to placebo (p=0.0732).
Forced Vital Capacity (FVC)
Model adjusted percent predicted FVC in the weekly group was 4.3% greater compared to placebo (p=0.0650); the every other week group showed no treatment difference in percent predicted FVC over placebo (p=0.9531).
Urinary GAG Levels
Urinary GAG levels were significantly lower in patients being treated with idursulfase in both the weekly or every other week dosing regimen compared to patients receiving placebo (p<0.0001). Among all 64 idursulfase treated patients, 26 patients had normalized urine GAG levels at week 53. None of the placebo patients had normalized urine GAG levels by week 53.
Liver and Spleen Size
Combined liver and spleen volume, as determined by MRI, decreased significantly from baseline to week 53 for patients receiving idursulfase weekly (-25.8%) or every other week (-23.7%), (p<0.0001 for both). Patients receiving placebo showed a volume increase of 0.3% in these organs over the same time period.
Left Ventricular Mass (LVM)
Of the 96 enrolled patients, 33 had an enlarged left ventricle at the initiation of the clinical trial (15 in the weekly group, and 9 each in the every other week and placebo groups). Patients in the idursulfase weekly group who had an enlarged left ventricle at the initiation of the clinical trial showed a mean reduction in LVM index of 14.1% following 52 weeks of treatment, compared with patients receiving placebo who exhibited a mean increase of 4.3% (p=0.1524). For patients treated every other week, there was a mean decrease in LVM index of 9.6% as compared to the 4.3% increase in the placebo group (p=0.2893).
Joint Range of Motion
There were no statistically significant differences between treatment groups for Global Joint Range of Motion Score, however there were improvements in elbow (p=0.0476) and shoulder joint mobility (p=0.0797) with weekly idursulfase compared to placebo.
Safety
Treatment with idursulfase was generally well-tolerated by patients in the trial. The most common adverse events observed were associated with the clinical manifestations of Hunter syndrome. Of the adverse events considered possibly related to idursulfase, infusion related reactions were the most common and were generally mild. There were two patient deaths during the study, both of which were considered unrelated to treatment with idursulfase. Of the 64 idursulfase-treated patients, 6 patients tested positive for IgG antibodies, and 2 patients tested positive for IgM antibodies at some time during the course of the study. No IgE antibodies were observed. No patient withdrew from the trial due to an adverse event considered related to idursulfase.
Proposed acquisition of Transkaryotic Therapies Inc.
Shire Pharmaceuticals Group plc announced July 27,2005, that the proposed acquisition of Transkaryotic Therapies, Inc. (“TKT”) was approved by Shire’s shareholders on July 27, 2005. The acquisition is now expected to complete on July 28, 2005.
Shire expects to pay approximately $1.6bn or $37 per common share in cash as consideration for the TKT shares in accordance with the terms of the acquisition.
Shire Chief Executive, Matthew Emmens, commented: “This is great news for Shire and TKT. This acquisition delivers on our strategy and brings a new drug development platform and expertise within a specialty area as well as further expansion into the European markets. We expect that this move will broaden our revenue base while continuing to grow our profits and further build our pipeline in a relatively low risk area of Enzyme Replacement Therapy.
“TKT transition will start immediately and David Pendergast will join our senior management team. We look forward to working with our new colleagues on the development and commercialization of their existing pipeline. The next important milestones this year are; the filing of I2S with the US Food and Drug Administration expected before the end of this year, as well as the publication of phase 1 clinical data for GA-GCB, a treatment for Gaucher’s disease.
“As previously stated, this acquisition is expected to significantly enhance Shire’s sales and EPS growth beyond 2007 and sustain Shire’s consistent operating margin performance.”
Chief Executive Officer of TKT, David Pendergast, Ph.D., said: “This is a tremendous opportunity for our business and our employees. We look forward to advancing our pipeline with the added expertise and resources that Shire brings to us. It is also great news for patients suffering from rare genetic disorders as it will enable us to introduce effective, life saving treatments that can make such a difference to their lives.”
TKT Reports Positive Top-Line Results of Hunter Syndrome Pivotal Trial
Primary Endpoint Achieves Statistical Significance
Transkaryotic Therapies, Inc. announced June 20, 2005 positive top-line results from the company's pivotal Phase III clinical trial evaluating its investigational human enzyme replacement therapy, iduronate-2-sulfatase (I2S), for the treatment of patients with Hunter syndrome. Hunter syndrome, also known as MPS II, is a rare, life-threatening genetic disorder with no available treatment. In the trial, patients who received 0.5 mg/kg of I2S on a weekly basis showed a statistically significant improvement in the primary efficacy endpoint (p=0.0049) compared to patients receiving placebo. Based on these results, TKT expects to file for regulatory approval of I2S in both the United States and Europe in the fourth quarter of 2005.
The primary efficacy endpoint of the trial, also referred to as the AIM study ("Assessment of I2S in MPS II") was a composite endpoint of two clinical measures previously used to assess clinical benefit in MPS disorders - forced vital capacity and six-minute walk test. The mean improvement from baseline to week 53 in percent predicted forced vital capacity was 3.4% in patients receiving I2S compared to 0.8% in patients receiving placebo. The mean increase from baseline to week 53 in the distance walked by patients receiving I2S was 44 meters as compared to 7 meters in the placebo group.
Joseph Muenzer, M.D., Ph.D., of the University of North Carolina at Chapel Hill, an internationally recognized leader in the diagnosis and treatment of MPS disorders and the lead investigator of the AIM study said, "These findings are very encouraging for the medical and patient communities as we believe enzyme replacement therapy can bring new hope for patients and families addressing many of the symptoms associated with Hunter syndrome."
Treatment with I2S was generally well-tolerated by patients in the trial. The most common adverse events observed were associated with the clinical manifestations of Hunter syndrome. Of the adverse events considered possibly related to I2S, infusion related reactions were the most common and were generally mild. No patient withdrew from the trial due to an adverse event considered related to I2S.
"We are extremely excited about the outcome of the study. In addition, we are very thankful to all the patients and their families who participated in this one year trial. Their commitment to this program was instrumental in generating the data which we believe will support regulatory approval of I2S," said Kip Martha, M.D., Senior Vice President and Chief Medical Officer of TKT.
TKT expects full data will be presented at a medical meeting in the autumn of 2005.
Trial Design
The AIM study was a Phase III double-blind, placebo-controlled clinical trial conducted at nine sites around the world, including the United States, the United Kingdom, Germany and Brazil. The primary goal of the study was to evaluate the safety and efficacy of 0.5 mg/kg of I2S administered weekly compared to placebo. Additionally, the trial evaluated 0.5 mg/kg of I2S every other week compared to placebo. Ninety-six patients with Hunter syndrome were randomized to one of three groups with each patient receiving a total of 52 infusions of either I2S, I2S alternating weekly with placebo, or placebo. Of the 96 who enrolled, 94 completed the study and they all elected to participate in the open-label extension study of I2S at a dose of 0.5 mg/kg weekly.
New Website Offers Comprehensive Information on Hunter Syndrome
Transkaryotic Therapies, Inc announced March 28, 2005 the launch of a new educational website focused on Hunter syndrome. Hunter syndrome, also referred to as MPS II, is a rare disorder in a class referred to as mucopolysaccharidoses or MPS. The site, http://www.hunterpatients.com, is a resource center for the Hunter community to access information about the genetics, diagnosis and management of Hunter syndrome as well as information about the drug development process.
TKT recently completed a multinational Phase III clinical trial evaluating an investigational enzyme replacement therapy for the treatment of Hunter syndrome. Results of the study are expected to be announced in June 2005 and, if positive, the company will file for regulatory approval in the U.S. and Europe in the second half of 2005.
"As we continue to learn more about MPS disorders and as new treatments are being developed, we hope to improve awareness of these rare and often life-threatening disorders. Easy access to information is the best way for families and practitioners to stay informed about new developments in the area," said Joseph Muenzer, M.D., Ph.D., of the University of North Carolina at Chapel Hill, an internationally recognized leader in the diagnosis and treatment of MPS disorders and the lead investigator of TKT's Phase III trial. "The launch of this site marks an important step toward offering patients, families and healthcare providers access to important medical and educational information relating to Hunter syndrome."
The website provides a comprehensive overview of Hunter syndrome, including resources for patients and healthcare professionals, information on clinical trials and a patient outcomes survey, as well as the ability to stay informed as new information about Hunter syndrome becomes available on the site. In addition, TKT expects to update and expand the site on a regular basis.
BioMarin Announces U.S. Launch of Naglazyme for MPS VI
BioMarin Pharmaceutical Inc. announced June 21, 2005 that Naglazyme(TM) (galsulfase) is now available in the United States as the first specific therapy approved for the treatment of individuals with mucopolysaccharidosis VI (MPS VI). Naglazyme was approved on May 31, 2005 by the U.S. Food and Drug Administration (FDA) and was shipped to distributors on Monday, June 20. The drug is being shipped to physicians this week. Naglazyme was developed by BioMarin and will be commercialized by the company's U.S.-based sales force. Naglazyme is indicated for patients with MPS VI. Naglazyme has been shown to improve walking and stair-climbing capacity.
"With the commercial launch of Naglazyme, individuals with MPS VI now have an approved treatment option that specifically addresses the underlying cause of this progressive and debilitating disease," stated Jean-Jacques Bienaime, Chief Executive Officer and Director of BioMarin. "Naglazyme is the second product developed by BioMarin to receive FDA approval and the first such product that we are commercializing on our own. We have prepared extensively for this moment and are optimistic that our preparation will result in a robust product launch."
In a separate release, BioMarin announced the appointment of Stephen Aselage to the position of Senior Vice President, Global Commercial Operations, effective July 1, 2005. BioMarin's commercial team includes four medical science liaisons who will be responsible for providing support to infusion centers and physicians who administer Naglazyme. The BioMarin sales force has mounted a disease awareness campaign targeted toward pediatricians and sub-specialists who are involved in the multi-disciplinary care of patients with MPS disorders to help drive new patient identification. Additionally, BioMarin has launched BioMarin Physician and Patient Support (BPPS), a free and confidential service established to assist patients and caregivers in their effort to receive insurance reimbursement for treatment with Naglazyme.
Naglazyme is administered once weekly via intravenous infusion and is dosed at 1 milligram of drug per kilogram of body weight. The annual cost of treatment will vary considerably according to each patient's weight.
ATU Program Under Way in France
In advance of product approval, BioMarin has received temporary use authorization (ATU) from regulatory authorities in France for named patient basis sales. Three patients who met certain selection criteria have begun to receive Naglazyme treatment. BioMarin expects to book revenue from these named patient basis sales and will continue to assist patients in Europe wherever possible prior to product approval in the European Union.
BioMarin Announces FDA Approval for Naglazyme
First Specific Therapy Approved for the Treatment of MPS VI
BioMarin Pharmaceutical Inc. announced June 1, 2005 that the U.S. Food and Drug Administration (FDA) has granted marketing approval for Naglazyme(TM) (galsulfase), the first specific therapy approved for the treatment of mucopolysaccharidosis VI (MPS VI). As the first drug ever approved for MPS VI, Naglazyme has been granted orphan drug status in the United States, which confers seven years of market exclusivity. BioMarin plans to launch Naglazyme in the United States in approximately 30 days. As post-marketing clinical commitments, BioMarin has agreed with the FDA to evaluate the effect of Naglazyme treatment on skeletal dysplasia in patients under the age of 1 and to maintain a clinical surveillance program to monitor patients on commercial therapy; no extension study of Phase 3 patients was required.
Clinical trials have demonstrated that Naglazyme provides clinically important benefits for MPS VI patients, specifically, improved endurance as demonstrated by the 12-minute walk test and 3-minute stair climb. Naglazyme reduced the excess carbohydrates (glycosaminoglycans, or 'GAGs') that are excreted in the urine of patients with MPS VI, an indication of enzymatic bioactivity.
"I have observed the positive effect that enzyme replacement therapy with Naglazyme can have on MPS VI patients, and I am very pleased that it will soon be made commercially available to those who need it," stated Paul Harmatz, M.D., Associate Director of the Pediatric Clinical Research Center at Children's Hospital & Research Center at Oakland, California, and Principal Investigator of the Phase 3 clinical trial of Naglazyme. "With Naglazyme now approved, physicians, for the first time, have a therapeutic to treat the underlying cause of MPS VI, increasing their ability to provide better care for MPS VI patients with this life-threatening disease."
"The approval of Naglazyme is a significant milestone for those whose life has been affected by MPS VI and for BioMarin," stated Jean-Jacques Bienaime, Chief Executive Officer of BioMarin. "The disease burden of MPS VI is enormous for patients, families and physicians. Naglazyme holds a very real possibility for making MPS VI a more manageable disease." Mr. Bienaime continued, "BioMarin developed Naglazyme on its own and now, with our U.S.- based sales force in place, we are ready to bring it to market. Our efforts to identify individuals with MPS VI in the years leading up to this day have positioned us to rapidly get patients on therapy come product launch. I would like to thank the individuals with MPS VI and their families and physicians as well as BioMarin employees for their years of hard work and dedication toward making Naglazyme for MPS VI a reality."
An application to market Naglazyme is currently pending in the European Union. BioMarin expects to receive an opinion from the European Commission in the fourth quarter of 2005, and if positive, final approval in early 2006.
Phase 3 Clinical Trial and Extension Study Results
BioMarin completed a 24-week, Phase 3, multi-center, double-blind, placebo-controlled trial involving 39 patients. Patients were randomized on a one-to-one basis into a Naglazyme treatment group or a placebo control group and received a weekly intravenous infusion of either 1.0 mg/kg of Naglazyme or placebo solution. During the 24-week period, 19 patients received weekly intravenous infusions of Naglazyme and 20 patients received weekly placebo infusions. One patient in the placebo group dropped out of the trial for reasons unrelated to treatment. All 38 patients who completed the trial elected to receive Naglazyme in an ongoing open-label extension study.
Efficacy Data
After 24 weeks of treatment, patients receiving Naglazyme demonstrated a statistically significant improvement (p=0.025) in endurance compared to patients receiving placebo as measured by the change relative to baseline in the distance walked in 12 minutes. The Naglazyme-treated group showed greater mean increase in distance walked in 12 minutes compared to the placebo group. The model-derived mean difference measured as a change from baseline between patients receiving Naglazyme and patients receiving placebo after 24 weeks was 92 +/- 40 meters. Following an additional 24 weeks of treatment with Naglazyme in the extension study, for a total of 48 weeks, patients demonstrated further improvement in endurance as measured by the change in distance walked in 12 minutes, relative to baseline. From week 24 to week 48, patients receiving Naglazyme since week one of the trial improved their mean walk distance an additional 36 +/- 97 meters.
After 24 weeks of treatment, patients receiving Naglazyme demonstrated an improvement (p=0.053) in stair-climbing ability compared to patients receiving placebo as measured by the change relative to baseline in the number of stairs climbed per minute. The Naglazyme-treated group showed greater mean increase in the rate of stairs climbed in three minutes compared to the placebo group. The model-derived mean difference measured as a change from baseline between patients receiving Naglazyme and patients receiving placebo after 24 weeks was 5.7 +/- 2.9 stairs per minute. Following an additional 24 weeks of treatment with Naglazyme in the extension study, from week 24 to week 48, patients receiving Naglazyme since week one of the trial improved their mean number of stairs climbed per minute by an additional 3 +/- 7 stairs.
After 24 weeks of treatment, patients receiving Naglazyme experienced a statistically significant reduction (p<0.001) of GAGs excreted in the urine, compared to patients receiving placebo. The average urinary GAG reduction in patients receiving Naglazyme after 24 weeks was 75.5 percent. This initial reduction in urinary GAG levels was maintained following an additional 24 weeks of treatment in the extension study.
While in the extension study, patients who receive placebo solution during the initial 24-week trial demonstrated an improvement in endurance following 24 weeks of treatment with Naglazyme as measured by the change in distance walked in 12 minutes, relative to baseline. From week 24 to week 48, the original placebo group demonstrated a mean increase of 65 meters relative to week 24 values. These patients also demonstrated an average improvement in stair-climbing ability as measured by stairs climbed in three minutes, relative to baseline, of 5.7 stairs per minute following 24 weeks of treatment with Naglazyme. Additionally, patients initially receiving placebo demonstrated a reduction in urinary GAG levels following 24 weeks of treatment with Naglazyme comparable to that observed for those treated in the initial 24-week, double-blind portion of the trial.
Safety Data
Data from the Phase 3 clinical trial and extension study indicate that Naglazyme was generally safe. The most common adverse events observed in clinical trials in Naglazyme-treated patients were headache, fever, arthralgia, vomiting, upper respiratory infections, abdominal pain, diarrhea, ear pain, cough, and otitis media. Over 95 percent of the infusion-related adverse events were considered mild or moderate and were easily managed. Infusion-related adverse events commonly included fever, chills/rigors, headache, rash, and mild to moderate urticaria. Severe reactions included angioneurotic edema, hypotension, dyspnea, bronchospasm, respiratory distress, apnea, and urticaria. No patients discontinued Naglazyme infusions for adverse events and all patients that completed the double-blind portion of the trial continue to receive weekly infusions of Naglazyme. Nearly all patients developed antibodies as a result of treatment, but the level of the immune response did not correlate with adverse events or impact the improvements experienced in endurance. Evaluation of airway patency should be considered prior to the initiation of treatment. Consideration to delay Naglazyme infusion should be given when treating patients who present with an acute febrile or respiratory illness.
BioMarin's Phase 3 Extension Study of rhASB in MPS VI Demonstrates Additional Improvements in Endurance
Further Improvements in Patients Receiving rhASB and Significant Improvements in Patients Previously Receiving Placebo
BioMarin Pharmaceutical Inc. March 9 2005 announced positive results from the Phase 3 extension study of rhASB (galsulfase), the company's investigational enzyme replacement therapy for the treatment of mucopolysaccharidosis VI (MPS VI). Data from the study demonstrate that patients who received rhASB for an additional 24 weeks, for a total of 48 weeks, continued to experience improved endurance. Patients who initially received placebo and then received rhASB for 24 weeks also experienced improved endurance. The data were presented by Stuart Swiedler, M.D., Ph.D., Senior Vice President of Clinical Affairs at BioMarin, at the annual meeting of the Society for Inherited Metabolic Diseases held in Pacific Grove, California.
Dr. Swiedler stated, "We are pleased to see continued benefit experienced by MPS VI patients receiving extended treatment with rhASB for MPS VI. The Phase 3 extension data further confirm the positive safety and efficacy profile of rhASB we have observed since the initiation of the clinical program, and we are working to make this therapy commercially available to individuals with MPS VI in the United States in the second half of the year."
Phase 3 Extension Study Design
All 38 patients who completed the initial 24-week, Phase 3, multi-center, double-blind, placebo-controlled trial were enrolled in the open-label extension study to further evaluate the safety and efficacy of rhASB. Patients who received rhASB during the initial 24-week, placebo-controlled portion of the trial continued to receive weekly 1.0 mg/kg infusions of rhASB in the extension study. Patients who initially received placebo during the placebo-controlled portion of the trial received 1.0 mg/kg of rhASB via weekly infusion during the extension study. Patients were evaluated at pre-defined, six-week intervals to assess changes in primary and secondary efficacy endpoints and the safety and tolerability of weekly rhASB infusions. Results of the study for the groups are summarized below:
Results from Patients Receiving 48 Weeks of rhASB
Results from Patients Receiving 24 Weeks of rhASB
Data indicate that rhASB was generally safe and well-tolerated. The majority of adverse events reflected the underlying disease state or occurred during drug infusion. Over 95 percent of the infusion-related adverse events were considered mild or moderate and were easily managed. No patients discontinued rhASB infusions for adverse events and all patients that completed the double-blind portion of the trial continue to receive weekly infusions of rhASB. Nearly all patients developed antibodies as a result of treatment, but the level of the immune response did not correlate with adverse events or impact the improvements experienced in endurance.
FDA Accepts and Grants Six-Month Review for BioMarin's Marketing Application for rhASB for MPS VI PDUFA Date Set for May 31, 2005
BioMarin Pharmaceutical Inc. announced Feb. 1, 2005 that the U.S. Food and Drug Administration (FDA) has accepted for filing and assigned six-month review to the Biologics License Application (BLA) for rhASB (galsulfase), the company's investigational enzyme replacement therapy for the treatment of mucopolysaccharidosis VI (MPS VI). The FDA will take action on the application, under the Prescription Drug User Fee Act (PDUFA), by May 31, 2005. A six-month review is typically granted to drugs that, if approved, would be a significant improvement in the safety or effectiveness of the treatment, diagnosis, or prevention of a serious or life-threatening disease. The FDA previously granted rhASB orphan drug designation, a designation conferred upon investigational products for diseases that affect fewer 200,000 patients in the United States. Products with orphan drug designation that are the first to be approved for a specific indication have seven years market exclusivity within the United States. About rhASB rhASB is an investigational enzyme replacement therapy designed to address the underlying enzyme deficiency associated with MPS VI. If approved, rhASB could become the first drug therapy for the treatment of MPS VI.
BioMarin's Phase 3 Extension Study of rhASB in MPS VI Demonstrates Additional Improvements in Endurance
Further Improvements in Patients Receiving rhASB and Significant Improvements in Patients Previously Receiving Placebo BioMarin Pharmaceutical Inc. announced March 9th positive results from the Phase 3 extension study of rhASB (galsulfase), the company's investigational enzyme replacement therapy for the treatment of mucopolysaccharidosis VI (MPS VI). Data from the study demonstrate that patients who received rhASB for an additional 24 weeks, for a total of 48 weeks, continued to experience improved endurance. Patients who initially received placebo and then received rhASB for 24 weeks also experienced improved endurance. The data were presented by Stuart Swiedler, M.D., Ph.D., Senior Vice President of Clinical Affairs at BioMarin, at the annual meeting of the Society for Inherited Metabolic Diseases held in Pacific Grove, California. Dr. Swiedler stated, "We are pleased to see continued benefit experienced by MPS VI patients receiving extended treatment with rhASB for MPS VI. The Phase 3 extension data further confirm the positive safety and efficacy profile of rhASB we have observed since the initiation of the clinical program, and we are working to make this therapy commercially available to individuals with MPS VI in the United States in the second half of the year." Phase 3 Extension Study Design All 38 patients who completed the initial 24-week, Phase 3, multi-center, double-blind, placebo-controlled trial were enrolled in the open-label extension study to further evaluate the safety and efficacy of rhASB. Patients who received rhASB during the initial 24-week, placebo-controlled portion of the trial continued to receive weekly 1.0 mg/kg infusions of rhASB in the extension study. Patients who initially received placebo during the placebo-controlled portion of the trial received 1.0 mg/kg of rhASB via weekly infusion during the extension study. Patients were evaluated at pre-defined, six-week intervals to assess changes in primary and secondary efficacy endpoints and the safety and tolerability of weekly rhASB infusions. Results of the study for the groups are summarized below: Results from Patients Receiving 48 Weeks of rhASB -- Patients demonstrated further improvement in endurance following an additional 24 weeks of treatment with rhASB as measured by the change in distance walked in 12 minutes, relative to baseline. From week 24 to week 48, patients receiving rhASB since week one of the trial improved their mean walk distance an additional 36 meters for a total of 145 meters for the 48-week period. -- Patients demonstrated a further improvement in endurance following 48 weeks of treatment with rhASB as measured by the number of stairs climbed in three minutes, relative to baseline. From week 24 to week 48, patients receiving rhASB since week one of the trial improved their mean number of stairs climbed per minute by an additional 2.9 stairs for a total of a 10.4 stairs-per-minute improvement for the 48-week period. -- The initial reduction in urinary glycosaminoglycan (GAG) levels, an in vivo measure of enzyme activity, was maintained from week 24 to week 48. Urinary GAG levels were reduced by 75.5 percent during the initial 24-week period. Results from Patients Receiving 24 Weeks of rhASB -- Patients initially receiving placebo demonstrated improvements in endurance following 24 weeks of treatment with rhASB as measured by the change in distance walked in 12 minutes, relative to baseline. From week 24 to week 48, the original placebo group demonstrated a mean increase of 65 meters relative to week 24 values. -- Patients initially receiving placebo solution demonstrated an average improvement in endurance as measured by stairs climbed in three minutes, relative to baseline, of 5.7 stairs per minute following 24 weeks of treatment with rhASB. -- Patients initially receiving placebo demonstrated a reduction in urinary GAG levels following 24 weeks of treatment with rhASB comparable to that observed for those treated in the initial 24-week, double-blind portion of the trial (p<0.001). Data indicate that rhASB was generally safe and well-tolerated. The majority of adverse events reflected the underlying disease state or occurred during drug infusion. Over 95 percent of the infusion-related adverse events were considered mild or moderate and were easily managed. No patients discontinued rhASB infusions for adverse events and all patients that completed the double- blind portion of the trial continue to receive weekly infusions of rhASB. Nearly all patients developed antibodies as a result of treatment, but the level of the immune response did not correlate with adverse events or impact the improvements experienced in endurance.
Genzyme Sues to Halt TKT Gaucher Trial TKT to Defend Patent Suit in Israel
Transkaryotic Therapies, Inc. (TKT) announced Jan. 24, 2005 that Genzyme Corporation has filed suit against TKT in the District Court of Tel-Aviv-Jaffa but not yet formerly served process on TKT. The suit claims that TKT's Phase I/II clinical trial evaluating its investigational Gene-Activated(R) glucocerebrosidase (GA-GCB) for the treatment of Gaucher disease infringes one or more claims of Israeli Patent No. 100,715. In addition, Genzyme filed a motion for preliminary injunction, including a request for an ex parte hearing and relief on the merits, to immediately seize and destroy all GA-GCB being used to treat patients in TKT's ongoing clinical trial and to prevent the company from submitting data generated from the clinical trial to regulatory agencies. The judge has already rejected Genzyme's request for ex parte relief. "We believe Genzyme's efforts to try and disrupt our ongoing clinical development of GA-GCB are an improper attempt to extend its monopoly in the area of Gaucher disease," said Kerry A. Flynn, Vice President of Intellectual Property and Licensing at TKT. "We do not believe we infringe any valid claim or that there is a reasonable likelihood that this unprecedented tactic will interrupt our clinical trial. We intend to honor our commitment to continue treating our Gaucher patients with GA-GCB." TKT is conducting an open-label Phase I/II study to evaluate the safety and clinical activity of GA-GCB. The study enrolled twelve patients with Type I Gaucher disease from several countries. TKT expects to report top-line data from this study in the second half of 2005. Gaucher disease is the most common of the inherited lysosomal storage diseases and is caused by a deficiency of the enzyme glucocerebrosidase. As a result of this deficiency, certain lipids accumulate in specific cells of the liver, spleen, and bone marrow causing significant clinical symptoms in the patient, including enlargement of the liver and spleen, hematologic abnormalities, and bone disease.
Genzyme Files for European Approval of Myozyme® For Treatment of Pompe Disease
Genzyme Corp. announced 20 December that the European Medicines Agency (EMEA) has accepted its marketing authorization application for Myozyme® (alglucosidase alfa), an investigational enzyme replacement therapy for Pompe disease. If approved, Myozyme would become the first treatment available to patients with Pompe disease, a debilitating and often fatal muscle disorder resulting from an inherited enzyme deficiency. The EMEA's Committee for Human Medicinal Products is expected to issue an opinion on the Myozyme application within one year, and a decision by the European Commission is anticipated early in 2006. "Pompe disease takes a devastating toll on patients and their families," said Henri A. Termeer, chairman and chief executive officer of Genzyme. "We have proceeded with a great sense of urgency to develop a product that we hope and believe will finally give them a chance. We are enormously grateful to everyone who has contributed so much to get us to this point, and we are working diligently to begin the approval process for Myozyme in other parts of the world next year." Myozyme has received orphan medicinal product designation, which applies to treatments for diseases that affect fewer than 5 in 10,000 people in the European Union. Approved orphan medicinal products are granted market exclusivity for 10 years. Genzyme is seeking approval for Myozyme's use as a long-term enzyme replacement therapy for all patients with a confirmed diagnosis of Pompe disease, defined as alpha-glucosidase deficiency. Genzyme's marketing application for Myozyme contains results from several clinical trials, including interim data from the ongoing study AGLU-01702, which is evaluating the use of Myozyme in severely affected children between 6 months and 3 years of age. One-year results from AGLU-01702 will become available during the application-review process, as will interim data from the ongoing study AGLU-01602, which is fully enrolled and includes children younger than 6 months of age with the classical infantile-onset form of Pompe disease. Nearly 100 Pompe patients are currently receiving Myozyme in clinical studies, through Genzyme's expanded access program, or through pre-approval access mechanisms sponsored by governments in several European countries. "This is a very hopeful moment for people with Pompe disease in Europe," said Ria Broekgaarden, of the Dutch Pompe patient organization VSN (Vereniging Spierziekten Nederland) and secretary of the International Pompe Association. "Patients urgently need treatment, and we will continue to advocate on their behalf." Genzyme anticipates submitting a marketing application for Myozyme in the United States in the middle of 2005. Applications in Japan and other countries will follow the U.S. submission. The company continues to make a significant investment in the development of Myozyme, which is its largest research and development project. Genzyme is currently conducting an observational study for patients with the late-onset form of Pompe disease and plans to initiate a placebo-controlled treatment study for late-onset patients next year. The company has also established a registry designed to improve knowledge about Pompe disease by documenting the natural course of the disease, disease management approaches and clinical outcomes. All patients are eligible to participate in the registry through their treating physicians. Genzyme is also engaged in a substantial expansion of manufacturing capacity for Myozyme at its facilities in both the United States and Europe.
Genzyme, AGTC Announce Gene Therapy Collaboration
Genzyme Corporation and Applied Genetic Technologies (AGTC), a private development-stage biotechnology company, announced 6th December 2004 that they have entered into a research collaboration to jointly develop novel therapeutics involving gene therapy. Through the collaboration, Genzyme gains access to AGTC's extensive expertise using Adeno-Associated Virus (AAV) vectors to deliver genes to patients, including access to AGTC's novel high-yield manufacturing capabilities for AAV vectors. These vectors may have therapeutic advantages in several disease areas where Genzyme has active preclinical development programs, including lysosomal storage disorders, cardiovascular disease, central nervous system disorders, immune-mediated disorders, and others. Genzyme brings to the collaboration more than a decade of experience with gene therapy, involving multiple clinical trials in cardiovascular disease, oncology, and cystic fibrosis. Financial terms were not disclosed. "We are delighted to collaborate with an established biotechnology leader like Genzyme, which has contributed heavily to many advances in our understanding of gene therapy," said Sue Washer, CEO of AGTC. "This agreement is an important validation of AGTC's technology, and will position us to build on our early work in a number of therapeutic areas and enable us to bring products to market more efficiently." "Our work with AGTC will bring Genzyme an impressive technology platform, which includes a scalable, highly productive manufacturing capability with the potential to support future clinical trials and product development," said Sam Wadsworth, vice president, Translational Research at Genzyme. AGTC has licensed a significant portion of its intellectual property from the University of Florida where researchers originated this ground-breaking work in gene therapy. AGTC is developing novel therapeutics for patients with unmet medical needs utilizing the non-pathogenic adeno-associated virus. AGTC's first product candidate is a treatment for Alpha One Antitrypsin Deficiency, an inherited form of emphysema; Phase I trials are underway with a potential product launch in early 2009. AGTC's investors include Interwest Partners (Menlo Park, California), Intersouth Partners (Durham, North Carolina), MedImmune Ventures (Gaithersburg, Maryland) and Skyline Ventures (Palo Alto, California). The company is located in Gainesville, Florida in the University of Florida's business development park. Genzyme Corporation is a global biotechnology company dedicated to making a major positive impact on the lives of people with serious diseases. The company's broad product portfolio is focused on rare genetic disorders, renal disease, osteoarthritis and immune-mediated diseases, and includes an industry-leading array of diagnostic products and services. Genzyme's commitment to innovation continues today with research into novel approaches to cancer, heart disease, and other areas of unmet medical need. More than 7,000 Genzyme employees in offices around the globe serve patients in over 80 countries.
TKTs I2S for Hunter Syndrome Receives Office of Orphan Products Grant
CAMBRIDGE, Mass., Sept. 28 /PRNewswire-FirstCall/ -- Transkaryotic Therapies, Inc. (Nasdaq: TKTX) today announced that it has received a Development Grant from the FDA's Office of Orphan Products Development (OOPD) for iduronate-2-sulfatase (I2S), TKT's investigational enzyme replacement therapy for the treatment of Hunter syndrome, also known as MPS II, a rare, fatal disease. The $300,000 grant will pay for some costs of the company's ongoing pivotal trial. "We are grateful for this recognition of the importance of our efforts to develop I2S as a potential treatment for Hunter syndrome. We fully support the FDA's mission to encourage clinical development of products for rare diseases and to put agency resources behind these development efforts," said Michael J. Astrue, President and Chief Executive Officer of TKT. Since 1989, approximately 36 products supported by OOPD grants have received marketing approval by the U.S. Food and Drug Administration. Clinical studies conducted under an Investigational New Drug application for a rare disease qualify for consideration by the program. Grants of this size are typically awarded to drugs in Phase III clinical trials. The I2S pivotal trial, referred to as the AIM (Assessment of I2S in MPS II) study, is a fully enrolled trial designed to evaluate safety and efficacy of weekly and every-other week infusions of I2S administered at a dose of 0.5 mg/kg. Patients will receive a total of fifty-two infusions of either I2S (patients randomized to the weekly dosing regimen), I2S alternating with placebo (patients randomized to the every other week regimen), or placebo. The AIM study is a twelve-month, randomized, double-blind, placebo-controlled trial being conducted at nine sites around the world. The primary efficacy endpoint in the trial is a single composite variable which combines two clinical measurements: forced vital capacity as a measure of respiratory function and the six-minute walk test as a measure of functional capacity. Additional efficacy endpoints include measurements of joint range of motion and combined liver/spleen size. TKT expects top-line results from the AIM study in the second quarter of 2005 and, if positive, the company expects to submit applications for marketing approval in both the United States and Europe in the second half of 2005.
TKT Receives Fast Track Designation For Iduronate-2-Sulfatase for Hunter Syndrome.
CAMBRIDGE, Mass., July 15 /PRNewswire-FirstCall/ -- Transkaryotic Therapies, Inc. (Nasdaq: TKTX) today announced that it has received fast track designation from the U.S. Food and Drug Administration (FDA) for iduronate-2- sulfatase (I2S) to treat Hunter syndrome (MPS II). TKT commenced a pivotal study with I2S in September 2003. The study, referred to as AIM (Assessment of Iduronate-2-sulfatase in MPS II) is a twelve-month, randomized, double-blind, placebo-controlled trial evaluating I2S in 96 patients. TKT expects top-line results from the AIM study in the second quarter of 2005 and, if positive, the company expects to submit applications for marketing approval in both the United States and Europe in the second half of 2005. "We are pleased that the FDA has given I2S this important designation," said Michael J. Astrue, President and Chief Executive Officer of TKT. "We are committed to bringing this treatment to patients as quickly as possible."
About Fast Track Designation
Under the FDA Modernization Act of 1997, fast track regulations are designed to facilitate the development of products to treat serious or life- threatening diseases where an unmet medical need exists. Fast track regulations are also designed to expedite the review process for designated products, including the potential for companies to submit marketing applications on a rolling basis.
TKT to Present Research on Intrathecal Delivery of I2S for Hunter Syndrome at ASHG New Data on Lysosomal Storage Disease Programs to be Presented
CAMBRIDGE, Mass., Sept. 20/PRNewswire-FirstCall/ -- Transkaryotic Therapies, Inc. (Nasdaq: TKTX) today announced that its research findings evaluating intrathecal delivery of iduronate-2-sulfatase (I2S) in an animal model will be presented at the American Society of Human Genetics 54th Annual Meeting in Toronto. I2S is TKT’s investigational enzyme replacement therapy being developed for the treatment of Hunter syndrome, also referred to as MPS II, a rare and often fatal disease. These research findings will be presented by Dr. Justin Lamsa of TKT at a poster session from 5:00 – 7:00 p.m. on Thursday, October 28, 2004. Recently, TKT made the decision to advance a program evaluating delivery of I2S directly into the central nervous system into preclinical development. The company expects to file an Investigational New Drug Application to commence human clinical trials of its I2S CNS program in the first half of 2006. “As part of our ongoing efforts to broadly serve patients suffering from rare diseases, we are committed to understanding how best to administer treatments targeting the central nervous system. Our hope is that intrathecal injection or other delivery methods may be feasible in treating patients affected with Hunter syndrome who develop central nervous system complications,” said Michael Heartlein, Ph.D., Vice President, Research at TKT.
MPS I
Aldurazyme (laronidase), the pharmaceutical form of alpha-L-iduronidase, is an enzyme replacement therapy for the treatment of MPS I.
In the second quarter of 2003, BioMarin and joint venture partner, Genzyme Corporation, received U.S. Food and Drug Administration (FDA) and European Commission (EC) marketing approval for Aldurazyme for the treatment of MPS I. Subsequently, Aldurazyme was approved in Norway, Iceland, Israel, the Czech Republic, Australia, and Canada. Applications are currently pending in several other countries.
As the first therapy to be approved in the United States and European Union for the treatment of MPS I, Aldurazyme has been designated by regulatory authorities as an orphan drug, and as such, has been granted seven years of market exclusivity within the United States and 10 years within the European Union.
In May and June 2003, respectively, Aldurazyme became commercially available in the United States and European Union.
As of December 31, 2003, approximately 220 patients were receiving treatment with Aldurazyme of which approximately 65 percent were receiving commercial therapy. BioMarin and Genzyme continue to make progress in both its MPS I patient identification and Aldurazyme reimbursement efforts.
MPS II
Transkaryotic Therapies (TKT), Inc. released research findings October 28, 2004 at the American Society of Human Genetics 54th Annual Meeting evaluating intrathecal delivery of iduronate-2-sulfatase (I2S) in an animal model. The results showed that repeated injections of I2S were well tolerated and resulted in the accumulation of enzyme in various cells of the central nervous system (CNS). I2S is TKT's investigational enzyme replacement therapy for the treatment of Hunter syndrome, MPS II. In addition to the I2S CNS program, TKT is conducting a pivotal trial known as the AIM study (Assessment of I2S for MPS II) that is evaluating I2S as a treatment for the non-CNS aspects of Hunter syndrome through repeated intravenous infusion. TKT expects top-line data from the AIM study in the second quarter of 2005.
The primary goal of TKT's I2S CNS research initiative was to determine if I2S could be successfully delivered to cells of the central nervous system by way of intrathecal injections. I2S was administered as 1 ml bolus injections via the cisterna magna. Key research findings include:
TKT has advanced a program evaluating delivery of I2S directly into the central nervous system into preclinical development. If data from the preclinical testing are positive, TKT expects to file an Investigational New Drug Application to commence human clinical trials of its I2S CNS program in the first half of 2006.
On July 15, 2004, TKT announced that it had received fast track designation from the U.S. Food and Drug Administration (FDA) for iduronate-2- sulfatase (I2S) to treat Hunter syndrome (MPS II). TKT commenced a pivotal study with I2S in September 2003. The study, referred to as AIM (Assessment of Iduronate-2-sulfatase in MPS II) is a twelve-month, randomized, double-blind, placebo-controlled trial evaluating I2S in 96 patients. TKT expects top-line results from the AIM study in the second quarter of 2005 and, if positive, the company expects to submit applications for marketing approval in both the United States and Europe in the second half of 2005.
MPS III
TKT’s researchers have been working to understand how to administer treatments to specifically target the central nervous system of certain disorders. TKT has been evaluating new approaches and if the results support it, the company hopes to conduct a trial to directly administer the enzyme into the central nervous system in MPS II patients in 2006, at the earliest. TKT believes success with this program may enable the company to develop treatments for other lysosomal storage disorders with significant CNS involvement, including Sanfilippo syndrome MPS III.
MPS IV
In August 2004 Transkaryotic Therapies (TKT) announced that after a rigorous review process, they had made the difficult decision to suspend work on their Morquio program. TKT believe the technical and regulatory challenges are greater than with other lysosomal storage diseases and plan to reallocate resources from the Morquio program to other programs in their pipeline. TKT have decided to advance their Hunter CNS program, and believe success with that program may enable them to develop therapies for other lysosomal storage diseases with significant CNS involvement, such as Sanfilippo syndrome. While they know this news will be disappointing, program development decisions such as these are part of TKT’s overall development strategy.
MPS VI
BioMarin Pharmaceutical Inc. announced 6th December that it has submitted a Marketing Authorization Application (MAA) to the European Medicines Agency for Aryplase(TM) (galsulfase), an investigational enzyme replacement therapy for the treatment of mucopolysaccharidosis VI (MPS VI).
BioMarin has received orphan medicinal product designation for Aryplase in the European Union. Orphan medicinal product designation is conferred upon investigational products for diseases that affect fewer than five in 10,000 patients in the European Union. Products with orphan medicinal product designation that are the first to be approved for a specific indication have 10 years market exclusivity within the European Union.
BioMarin Pharmaceutical Inc. announced November 29, 2004 that it has submitted a Biologics License Application (BLA) to the U.S. Food and Drug Administration (FDA) for AryplaseTM (galsulfase), an investigational enzyme replacement therapy for the treatment of MPS VI.
At a pre-BLA meeting in September of this year BioMarin met with FDA to discuss key information on Aryplase to be included in the BLA. Consistent with this meeting, the fully electronic BLA filing includes a comprehensive set of preclinical, clinical and manufacturing related information on Aryplase. As part of the BLA submission, BioMarin has requested priority review, a request considered by the FDA for new product applications that address unmet medical needs. If the FDA accepts the BLA and grants the request for priority review, the FDA is expected to complete all aspects of the review and to take action on the application within six months of its submission. Aryplase has received fast track status and orphan drug designation. Orphan drug designation is conferred upon investigational products for diseases that affect fewer than 200,000 people in the United States. Products with orphan drug status that are the first to be approved for a specific indication have seven years of market exclusivity within the United States.
BioMarin Pharmaceutical Inc. announced June 3, 2004 positive phase III data on Aryplase™ for MPS VI. The company reported the following results:
MPS VII
Drs Emil Kakkis and William Sly have received a grant to develop enzyme replacement for MPS type VII. They are making steady progress with BioMarin Pharmaceutical, but no timeline for human clinical trials is projected.
Information regarding MPS VII taken from an article published www.emedicine.com May 12, 2003 titled Mucopolysaccharidoses Types I-VII Author: Janette Baloghova, MD, Lecturer, Department of Dermatology, Medical Faculty, University of PJ Safarik at Kosice, Slovak Republic (Could not verify the above at the time of publishing)
News items for this article are sourced from the following:
BioMarin and TKT have provided additional information. Please do not rely on the contents of this article without obtaining independent substantiation from your treating medical practitioner.
A
wonderful and rewarding conference was held from Friday 16 April to
Sunday 18 April in Melbourne. Details of conference papers and
reports will be added to this site over the coming months and will be
included in the Linking Hand. Please keep posted.
Thanks are due particularly to Wendy Boon and Vanessa Scott for their leadership and hard work in organising and conducting the conference.
Well we did it ! Melbourne hosted the 10th National MPS Conference on the 16th-18th April with great style, culture and of course near perfect weather! What more could we have asked for? (Perhaps the wind and those showers on Saturday afternoon could have held off just a little longer). For those of us from Melbourne who experienced the following weekend’s storms and squalls we didn’t do too bad.
The Conferences are always a great opportunity to renew old acquaintances and to make new friends. This year we welcomed 7 new families and 11 new professionals - this was really great and we all appreciated everyone’s participation. The Carlton Crest Hotel staff members were very helpful with every aspect of the Conference, from comfortable accommodation and great facilities and of course the food was terrific. I hope Stephanie Oats from SA enjoys her free night’s accommodation, one of the prizes drawn from Saturday night’s raffle. The Children had a great time and we all enjoyed the terrific BBQ at the lake. It was a fabulous opportunity for all to listen to the music therapist, play with the farm animals and of course the face painting was amazing. The Carers and coordinators did a great job in making sure everything ran smoothly. As you can imagine things can get a little tricky, I know my son Max did his very best to have a swim at the aquarium, hopefully the sharks nests will recover!
We were very fortunate to receive financial support from a wide range of corporate and philanthropic sponsors. They included (in alphabetical order) Biomarin Pharmaceuticals, Genzyme Australasia Pty Ltd NSW, Paul Newman Foundation, Rotary Club of Berwick, Ryan Boon Memorial Fund, The Great Aussie Bush Show, and Transkariotic Therapies. We also received Grants, Donations, Goods and Services from over 79 individuals, foundations and companies. Without this generous support we would not be able to hold our Conferences. We thank to all of these people and those who gave of their time to ask for this support.
The presenters at this year’s conference did not let us down. They gave a great insight into treatments, therapies and studies in a clear and thoughtful way. The feedback has been very positive regarding the content of the program. It is great to continue to receive the support of the Doctors, Nurses and Professionals. Most of the speaker’s abstracts are available on our website as detailed below.
It is an exciting time for many families as they hear about clinical use of enzyme replacement therapies, and other ERT trials. This has also opened the door for new approaches we may need to take as a society in order to secure government support to fund these therapies in the not to distant future. We have also been challenged with the ethical debate over selection for trials and newborn screening. We have also confirmed our most important role is to support all those affected with MPS and Related Diseases.
We look forward to working with some new faces on the committee and to get your feedback regarding the new challenges we face as a Society and the direction we need to take. Let us know what is important to you and your situation.
Things are already moving forward in preparation for next MPS and related Diseases Conference in 2006. Queensland here we come!
Vanessa Ede-Scott
Vice President, Australian MPS Society
The 2004 Annual General Meeting was held at the Conference on Saturday 17 April 2004.
The Society elected a new President, Wendy Boon and a new Vice President, Vanessa Scott. David Oliver remains as Secretary and Greg Moran remains as Treasurer. New committee members are Patricia Morgan, Ingrid King and Joanna Betteridge.
The Society noted with thanks the great work that Greg has done over the last twelve months carrying both the roles of President and Treasurer.
Please click on this link to read the Conference Abstracts:
Congratulations to Professor John Hopwood of the Women's and Children's Hospital in Adelaide who was honoured in the Australia Day Honours. John also received the 2003 Lemberg Medal. For a synopsis of John's career and achievements, please access this link - John Hopwood.
(US) BioMarin Pharmaceutical Inc. Press Release - 15/5/03
Cambridge, Mass. and Novato, Cal. - Genzyme General and BioMarin Pharmaceutical Inc. announced today that Aldurazyme® (laronidase) is now available in the United States as the first specific treatment for people with the rare genetic disease mucopolysaccharidosis I (MPS I).
Aldurazyme was approved on April 30, 2003 by the U.S. Food and Drug Administration, and is being shipped to physicians this week. Aldurazyme was developed by BioMarin and Genzyme under a joint venture agreement that assigns commercial manufacturing responsibilities to BioMarin, and worldwide sales and marketing responsibilities to Genzyme.
Genzyme has begun to market Aldurazyme to physicians through an expanded sales force of nearly 40 professionals who specialize in providing enzyme replacement therapies for rare genetic diseases. Sales efforts will focus on raising awareness of MPS I and the availability of Aldurazyme among geneticists, pediatricians, and sub-specialists who are involved in the multi-disciplinary care of patients with MPS I.
In preparation for launch, Genzyme has worked with a core network of hospitals and medical centers to help prepare them to immediately begin treating patients with Aldurazyme. Many of these centers have extensive experience treating patients with lysosomal storage diseases, including Gaucher disease, Fabry disease, and MPS I. Aldurazyme will be distributed in the United States primarily by Accredo Health, Inc. of Memphis, TN. and TheraCom, Inc. of Bethesda, MD.
Genzyme has also begun to track the long-term progress of people with MPS I through a worldwide patient registry, which was launched last month.
Aldurazyme expands the options available to patients and physicians to address this devastating disease, said David Meeker, M.D., president of Genzyme's Lysosomal Storage Disorders business unit. We are well prepared to rapidly introduce this product to all who need it.
Genzyme has extensive resources in place to help ensure that Aldurazyme is available to all patients who would benefit from it and for whom the product is indicated. Genzyme Treatment Support links families with on-staff specialists who help them obtain insurance reimbursement for treatment, and access to local clinicians who specialize in treating MPS I. Genzyme has also launched LysoSolutionsSM, a network of programs and services designed to optimize the delivery of care provided to MPS I patients based on their individual needs.
It is anticipated that the vast majority of patients receiving Aldurazyme will have either the Hurler or Hurler-Scheie form of the disease. The annual cost of treatment will vary considerably according to each individual patient's weight. The average annual cost of therapy for these patients is estimated to be comparable to other enzyme replacement therapies currently on the market.
Aldurazyme received a positive opinion from the Committee for Proprietary Medicinal Products (CPMP) in the first quarter of 2003, typically the final step to marketing clearance in the 15 countries of the European Union. The companies expect a final decision from the European Commission in the second quarter of 2003, at which time they will provide sales guidance. Applications to market Aldurazyme are also pending in Canada and Australia, and the companies expect a response late in 2003 or early in 2004.
MPS I is a rare, progressive, heterogeneous, debilitating disease caused by a deficiency of the enzyme alpha L-iduronidase that affects an estimated 3,000 to 4,000 people worldwide, including approximately 1,000 in the United States. Patients who lack this enzyme accumulate a carbohydrate called glycosaminoglycan (GAG) in tissues and organ systems. A majority of patients die before adulthood due to a wide range of problems related to the disease, including progressive damage to the heart, lungs, liver, and kidneys. Aldurazyme addresses the underlying cause of MPS I by replacing the missing enzyme through a weekly infusion. More information about MPS I can be found at http://www.mps1disease.com.
Aldurazyme is indicated for patients with the Hurler and Hurler-Scheie forms of MPS I, and for Scheie patients with moderate to severe symptoms. The risks and benefits of treating mildly affected patients with the Scheie form have not been established. Aldurazyme has not been evaluated for effects on the central nervous system manifestations of the disorder. More information on Aldurazyme can be found at http://www.aldurazyme.com.
The most common side effects associated with treatment with Aldurazyme were upper respiratory tract infection, rash, and injection site reaction. The most common adverse reactions requiring treatment were infusion-related hypersensitivity reactions including flushing, fever, headache, and rash. The most serious adverse reaction reported with Aldurazyme was an anaphylactic reaction consisting of hives and blockage of the breathing tubes, which occurred in one person. Emergency surgery was required to help this patient breathe. This patient's underlying disease may have contributed to the severity of this reaction. The majority of patients in clinical studies developed an immune response to treatment with Aldurazyme. The clinical significance of this response is unknown. Aldurazyme is available by prescription only. Full prescribing information is available at http://www.genzyme.com/corp/AZpi.pdf.
Genzyme General develops and markets therapeutic products and diagnostic products and services. Genzyme General has six therapeutic products on the market and a strong pipeline of therapeutic products in development focused on the treatment of genetic diseases and other chronic debilitating disorders with well-defined patient populations. Genzyme General is a division of Genzyme Corp.
BioMarin Pharmaceutical specializes in the development and commercialization of therapeutic enzyme products to treat serious, life-threatening diseases and conditions.
This press release contains forward-looking statements, including without limitation statements about: expectations and plans related to the commercialization and manufacture of Aldurazyme; estimates concerning the MPS I patient population, including the prevalence of the different forms of MPS I; expectations concerning the annual cost of Aldurazyme and plans to provide sales guidance, including the expected timing thereof; and expectations concerning decisions by regulatory authorities in the European Union, Canada and Australia regarding marketing applications for Aldurazyme, including the anticipated timing thereof. These statements are subject to risks and uncertainties that could cause actual results to differ materially from those projected in these forward-looking statements. These risks and uncertainties include, among others: the effectiveness of the companies' commercialization plan for Aldurazyme and Genzyme's sales force; the ability to manufacture sufficient quantities of product and to do so in a timely and cost efficient manner; the accuracy of the companies' information concerning the MPS I patient population; the actual impact of the Committee for Proprietary Medicinal Product's opinion on decisions made by the European Commission regarding Aldurazyme; the content and actual timing of decisions by the European Commission and other regulatory authorities concerning marketing applications, labeling and pricing for Aldurazyme and manufacturing facilities to be used for Aldurazyme; the ability to maintain relationships with third party distributors and fill/finish facilities; the continued funding and operation of the joint venture between Genzyme and BioMarin; the availability and extent of reimbursement for Aldurazyme from third party payers; the companies' ability to obtain and maintain adequate patent and other proprietary rights protection for Aldurazyme; the scope, validity and enforceability of patents and other proprietary rights held by third parties related to therapies for MPS I and the actual impact of such patents and other rights on the companies' ability to commercialize Aldurazyme; and the risks and uncertainties described in reports filed by Genzyme and BioMarin with the Securities and Exchange Commission under the Securities Exchange Act of 1934, as amended, including without limitation the factors contained under the caption Factors Affecting Future Operating Results in Exhibit 99.2 to Genzyme Corporation's 2002 Annual Report on Form 10-K, as amended. Genzyme General Division common stock is a series of common stock of Genzyme Corporation. Therefore, holders of Genzyme General Division common stock are subject to all of the risks and uncertainties described in Genzyme Corporation reports. Genzyme and BioMarin caution investors not to place undue reliance on the forward-looking statements contained in this press release. These statements speak only as of the date of this press release, and Genzyme and BioMarin undertake no obligation to update or revise the statements.
Genzyme® is a registered trademark and LysoSolutionsSM is a service mark of Genzyme Corporation. Aldurazyme® is a registered trademark of BioMarin/Genzyme LLC. All rights reserved. BioMarin's press releases and other company information is available at http://www.biomarinpharm.com. Information on BioMarin's website is not incorporated by reference into this press release.
The New Zealand Organisation for Rare Disorders (NZORD)'s website is now available online. It is designed to be a resource for clinicians, researchers and policy agencies as much as it is for patients and families affected by rare disorders, and their support groups.
NZORD hopes it will be of interest and use to you, despite its obvious New Zealand bias in some sections. Many of the resources on rare diseases, information databases, research, genetics and other topics, will be relevant to people wherever they live. NZORD is committed to building networks and partnerships between patients/families, researchers, clinicians and policy agencies, to speed knowledge gain and treatments for rare diseases. They see strong international links between all the stakeholder groups as an essential part of progress. Feedback is welcomed. The site can be found at http://www.nzord.org.nz.
Genzyme Corp has set up a new website with information
specifically on MPS I. The website is located at
www.mps1disease.com.
The site is designed to provide useful information and helpful
resources about the disease for both the healthcare professionals as well as for
patients and their caregivers. Raising awareness about the disease
and its treatments in the MPS community is Genzyme's goal for this website.
They hope that you find it to be a valuable resource.
At their other new website
www.Aldurazyme.com, Genzyme have set up a feature that allows visitors to
send in contact information of both the medical centers and physicians (email)
with experience in treating MPSI disease across Australia. MPS Australia provides this
information purely for its members and readers of this site to provide you with
the opportunity to decide if you are interested in correspondence with Genzyme.
If so,
please visit the Aldurazume website.
MPS Australia is not able to answer any queries about this project.
A message from an American MPS family:
Our son has MPS III C, recently diagnosed, and we recently joined the US MPS society. As we learn more about this disorder, we have discovered that it is one of only three lysosomal storage disorders for which the location of the causal gene is still unknown. We also have learned that no one currently is doing research on this particular subtype of Sanfilippo syndrome to discover the gene location. It appears that the first step toward being able to accomplish that is the existence of a registry of all currently known cases of Sanfilippo C. We do not believe such a registry exist in the US, either through the MPS society, or through anyone else such as the NIH, or some institution doing MPS research, however we are making inquiries to confirm this.
Does such a registry exist in Australia through the MPS society or through the National Health Service? It appears from Australia data that the incidence of the MPS III C is so low (approximately 1 case in 1.5 million live births, compared to a combined incidence for all types of MPS at approximately 1 in 25,000 live births), that forming a registry from any single country may be a futile exercise as the number of existing cases in any one country may be only a very few. However a global registry may show some possibility.
If an Australian family (or any other international family reading this message) would like to be involved in the international registry, please email Robert Bailey at s-bailey@northwestern.edu
A comprehensive history of the Society has now been posted to this site. Please see our History page to see how our Society was commenced and has grown.
A web-based MPS VI registry has been established by The Women's and Children's Hospital in Adelaide and BioMarin Pharmaceutical, Inc.
The registry is designed to collect and to provide information to doctors, researchers and patients about the prevalence, natural progression, and range and severity of symptoms in MPS VI. Interested patients can enrol in the registry at https://www.mpsvi.org/Registry/index.cfm See more details in our MPS VI page under MPS Diseases.
If you would like to purchase the MPS fundraising cookbook, please contact the MPS office either by email: info@mpssociety.org.au or by post to the office address provided in our Contact page.
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