Research News

BioMarin Announces FDA Approval for VIMIZIM(TM) (elosulfase alfa) for the Treatment of Patients With Morquio A Syndrome

First drug to receive Rare Pediatric Disease Priority Review Voucher

The U.S. Food and Drug Administration today approved Vimizim (elosulfase alfa), the first FDA-approved treatment for Mucopolysaccharidosis Type IVA (Morquio A syndrome). Morquio A syndrome is a rare, autosomal recessive lysosomal storage disease caused by a deficiency in N-acetylgalactosamine-6-sulfate sulfatase (GALNS). Vimizim is intended to replace the missing GALNS enzyme involved in an important metabolic pathway. Absence of this enzyme leads to problems with bone development, growth and mobility. There are approximately 800 patients with Morquio A syndrome in the United States.

Vimizim was granted priority review. An FDA priority review provides for an expedited review of drugs for serious diseases or conditions that may offer major advances in treatment. Vimizim is also the first drug to receive the Rare Pediatric Disease Priority Review Voucher – a provision that aims to encourage development of new drugs and biologics for the prevention and treatment of rare pediatric diseases.

“This approval and rare pediatric disease priority review voucher underscores the agency’s commitment to making treatments available to patients with rare diseases,” said Andrew E. Mulberg, M.D., deputy director, Division of Gastroenterology and Inborn Errors Products in the FDA’s Center for Drug Evaluation and Research (CDER). “Prior to today’s approval, patients with this rare disease have had no approved drug treatment options.”

The safety and effectiveness of Vimizim were established in a clinical trial involving 176 participants with Morquio A syndrome, ranging in age from 5 to 57 years. Participants treated with Vimizim showed greater improvement in a 6-minute walk test than participants treated with placebo. On average, patients treated with Vimizim in the trial walked 22.5 meters farther in 6 minutes compared to the patients who received placebo.

The most common side effects in patients treated with Vimizim during clinical trials included fever, vomiting, headache, nausea, abdominal pain, chills and fatigue. The safety and effectiveness of Vimizim have not been established in pediatric patients less than 5 years of age. Vimizim is being approved with a boxed warning to include the risk of anaphylaxis. During clinical trials, life-threatening anaphylactic reactions occurred in some patients during Vimizim infusions.

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BioMarin Announces Selection of NAGLU Fusion Protein Drug Development Candidate BMN 250 for the Treatment of Sanfilippo B (MPS IIIB)

Please click here for the full BioMarin News Release.


Shire MPS II Neurodevelopmental Observational Study

Shire Human Genetic Therapies, Inc. is sponsoring an observational clinical trial to evaluate the neurodevelopmental status of pediatric patients with MPS II who may show signs of central nervous system involvement. This is an observational study only, therefore no treatment for MPS II with an investigational drug will be offered. Read the information on eligibility. Click here for more details.


Synageva BioPharma preclinical data highlighting the ability of SBC-103 to reduce the accumulation of substrate in the brain of an MPS III B animal model

During the LDN WORLD conference held on February 13-15 in Orlando, Florida, Synageva presented a poster with preclinical data highlighting the ability of SBC-103 to reduce the accumulation of substrate in the brain of a Mucopolysaccharidosis IIIB (also known as MPS IIIB, or Sanfilippo B) animal model. Accurate measurement of abnormal substrate in the brain has historically been more challenging in this disease and this is most likely a reflection of the methods used. Given the importance of being able to measure substrate to assess disease progression and the effects of enzyme replacement in lysosomal storage disease, Synageva has being working on developing improved methods for quantifying heparan sulfate disaccharides(HSD), the substrate that accumulates in MPS IIIB patients due to the NAGLU enzyme deficiency. This poster shows firstly that the method can clearly differentiate between affected and unaffected NAGLU deficient MPSIII B mice and secondly, that treatment with SBC-103, a recombinant human NAGLU, using intrathecal and intravenous dosing approaches produced dose-dependent HSD level reductions in the brain, liver and kidney tissues. These new data build on work presented last year in which Synageva demonstrated that it had been able to make for the first time recombinant human NAGLU enzyme with good mannose-6-phosphate dependent cellular uptake properties.

While Synageva’s MPS IIIB program is still in the preclinical stages of development, Synageva is aiming to initiate a Natural History study in the second half of 2013, and is working toward initiating human clinical studies in 2014.  Please look forward to more news and updates as the company continues to develop their clinical program.

About Synageva BioPharma Corp.

Synageva is a clinical stage biopharmaceutical company focused on the discovery, development, and commercialization of therapeutic products for patients with life-threatening rare diseases and unmet medical need. Synageva has several protein therapeutics in its drug development pipeline. The company has a team with a proven record of bringing therapies to patients with rare diseases.

Further information regarding Synageva BioPharma Corp. is available at


Pentosan Polysulfate: A Novel Therapy for the Mucopolysaccharidoses

January 2013: Dr. Edward Schuchman, et al, published an article in PLOS One. The article presents findings in MPS VI rats treated with pentosan polysulfate (PPS) and can be accessed in its entirety here. Their work in MPS VI rats suggests that PPS “could be a simple and effective therapy for MPS that might provide significant clinical benefits alone and in combination with other therapies.”  The full text of the article and a statement by the authors is on our website in the Research section, under “research news”.  The National MPS Society, along with other patient advocacy groups, is in discussion with Janssen Research & Development, LLC, a research branch of Johnson & Johnson which licenses the FDA approved PPS, Elmiron®.  Janssen is establishing a group of MPS experts to begin discussions of the path forward toward a clinical trial.  Janssen has noted that their primary goal is to support patients and that they are open to a clinical trial.


Disease-specific non-reducing carbohydrate biomarkers for mucopolysaccharidoses

January 2012: An article by Dr. Brett Crawford, et al, titled “Disease-specific non-reducing carbohydrate biomarkers for mucopolysaccharidoses,”  was published in Nature Chemical Biology. They present a simple conceptual scheme for diagnosing MPS in uncharacterized samples and a method to monitor efficacy of enzyme replacement therapy or other forms of treatment. The abstract is available online.


Female Mucopolysaccharidosis IIIA Mice Exhibit Hyperactivity and a Reduced Sense of Danger in the Open Field Test

October 18, 2011: New work from Dr. Brian Bigger who wrote: “These findings may seem pretty obvious to anyone who is a parent of a child with Sanfilippo, but it was not obvious that MPSIIIA mice would prove to be hyperactive, with many finding the opposite effect, or no effect on behaviour in the past. I’m hoping that this study will really help with assessment of new treatments in mouse models and clear up some of the controversy.” Read more


Families with children affected by SANFILIPPO Syndrome are expecting the beginning of the first gene therapy trial on MPSIIIA

April 12, 2011: Supported by the Alliance SANFILIPPO, by the AFM-Telethon Foundation and by the SANFILIPPO foundation in Switzerland, the program brings together scientific, medical, toxicological, regulatory, and clinical expertise recognized in this kind of very specific orphan diseases.

Based on solid preclinical studies in terms of efficiency and safety, three years after a validating proof of principle on animals, SAF-301 program obtained the agreement of the Persons Protection Committee in November 2010. The program is actually in the final validation phase within the competent agency for clinical trials authorization in France. Read more.


Zacharon Pharmaceuticals Announces Research and Development; Collaboration with Pfizer to Develop Drugs for Multiple Rare Disorders

The Society has provided two grants to Dr. Brett Crawford at Zacharon to fund this work.

April 7, 2011: Zacharon Pharmaceuticals, Inc. announced that they entered into a strategic research collaboration with Pfizer Inc. to develop drugs for orphan diseases, including lysosomal storage disorders. The potential value of the collaboration to Zacharon is approximately USD $210 million. Read more.


Im sure youve heard the news, but just in case you havent we are all jumping up and down because we just signed a collaboration with Pfizer to develop CNS penetrant therapies for MPS!! Without the MPS Society funding there is no way we could have made it this far. I hope we can make it all the way to helping patients I think this is a big step in the right direction.

Thanks again for your help,


MolMed and Fondazione Telethon to Collaborate on Gene Therapy for Six Rare Diseases

The Society funded the work of Dr. Alessandra Biffi on gene therapy for MPS I which helped move this work forward.

March 28, 2011: MolMed S.p.A. and Fondazione Telethon jointly announced the signature of an agreement to develop and manufacture novel gene therapy treatments for six rare genetic diseases that presently have no adequate form of cure, including MPS I. Read More.

Dear Barbara,

The project stems from the work which you contributed funding. The idea is to develop the MPS I work towards clinical testing in the near future, which means in approximately 2 years from now. It will be my pleasure to keep you updated, if you wish.

Thank you for your interest in our work and best regards,


Correction of Neurological Disease of Mucopolysaccharidosis IIIB in Adult Mice by rAAV9 Trans-BloodBrain Barrier Gene Delivery

The greatest challenge in developing therapies for MPS IIIB (Sanfilippo IIIB) is to achieve efficient central nervous system (CNS) delivery across the blood-brain barrier (BBB). Dr. Haiyan Fu and her associates at Childrens Hospital in Columbus, OH report on the success of AAV9 to cross the BBB to achieve long-term global CNS and widespread somatic (within the body) restoration of NAGLU, the MPS IIIB deficient or missing enzyme. The study abstract is available on the Molecular Therapy website.


Position Statement on the use of genistein to treat MPS types IIIA-D

MPS Stem Cell Research Group, Department of Biomedicine, University of Manchester Genetic Medicine, St. Marys Hospital, Central Manchester University Hospitals NHS Foundation Trust

The Manchester team has recently published preclinical data in the mouse model of Sanfilippo disease IIIB (MPSIIIB) showing significant delay in neurodegeneration and behavioral correction following high daily doses of the drug genistein aglycone delivered over a 9 month period. Read the Position Statement.


Genistein Improves Neuropathology and Corrects Behaviour in a Mouse Model of Neurodegenerative Metabolic Disease

December 2010: Dr. Brian Bigger from the University of Manchester reported his recent work showing that high doses of genistein aglycone can delay disease progression in mice with Sanfilippo IIIB in PLoSONE, an open access journal (access it here:


New discovery prevents symptoms of rare genetic disorder

December 2010: A new study offers hope for children born with a rare genetic disease, according to a paper published by the American Association for the Advancement of Science. The research was led by Dr. Matthew Ellinwood, a veterinarian and animal science professor at Iowa State University, in collaboration with Dr. Patricia Dickson at the Harbor-UCLA Medical Center, with colleagues at the Iowa State College of Veterinary Medicine, the University of Tennessee, S. Louis University and the University of Pennsylvania. Their work was published in the AAAS journal Science Translational Medicine. See the full press release.


New Drug Application (NDA) Process

For decades, the regulation andcontrol of new drugs in the United States has been based on the NewDrug Application (NDA). Since 1938, every new drug or therapy has beenthe subject of an approved NDA before US commercialization. The NDAapplication is the vehicle through which drug sponsors, such as biotechand pharmaceutical companies, formally propose that the FDA approve anew pharmaceutical for sale and marketing in the US. The data gatheredduring the animal studies and human clinical trials of anInvestigational New Drug (IND) become part of the NDA. Read more.