Category Archives: MPS research

Research reports that have a bearing on understanding and treatments or therapies for Sanfilippo syndrome, Hunter syndrome, or other MPS disease.

Participating in the U.S. Rare Disease Registry (CoRDS)

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The Coordination of Rare Diseases at Sanford (CoRDS) registry is a United States disease registry that includes all rare diseases. The CoRDS registry is headquartered at Sanford Research in Sioux Falls, South Dakota and is supervised by Dr. David Pearce and Dr. Chun-Hung Chan and managed by Liz Donohue and Lauren Beaumont. If you want to enroll your child in the registry, this post contains the information and links to tell you what you need to know. Continue reading →

Gene therapy for Lysosomal Storage Diseases

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Over the years many cell and gene therapy approaches have been tested in animal models of lysosomal storage diseases, and two main approaches have emerged as the most promising for translation into human clinical trials: In vivo gene transfer by direct infusion of viral vectors (AAV and lentivirus vectors) encoding normal enzymes; or modification of bone marrow stem cells in culture with viral vectors encoding normal enzymes (retrovirus and lentivirus vectors) followed by transplantation (this latter approach is often referred to as ex vivo gene therapy). Continue reading →

Intrathecal enzyme replacement to treat MPS VI

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What is MPS VI? MPS VI (mucopolysaccharidosis VI), also known as Maroteaux-Lamy Syndrome, is an inherited lysosomal storage disorder caused by the deficiency of arylsulfatase B, an enzyme normally required for the breakdown of certain complex carbohydrates known as glycosaminoglycans (GAGs). If the enzyme is not present in large enough amounts, the normal breakdown of … Continue reading →

Inclusion criteria available for MPS 3B Natural History Study

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The website clinicaltrials.gov has the complete description of the Natural History Study for MPS 3B. Study Dates The study start date is scheduled to be February, 2012. Study Completion for data collection will be August, 2014, with final completion in September of 2014. Study Description As nearly everyone knows, the study involves no treatment. The … Continue reading →

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Sanfilippo charities join together to fund basic research

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To see the full press release: Charities unite worldwide to fund Sanfilippo research Led by the Team Sanfilippo Foundation, a group of worldwide charities has announced a $145,000 (AUD) grant to Dr Kim Hemsley and Professor John Hopwood in Adelaide, Australia to study the fundamental disease processes involved in the pathology of MPS III, also … Continue reading →

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Korean Pharma Company gets approval for Hunter syndrome drug

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The Korean pharmaceutical company Green Cross has developed and received approval from the Korean FDA for an alternative, licensed therapeutic enzyme to treat Hunter Syndrome, a rare disease that until now had only one treatment option available.
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Genistein in Sanfilippo disease (Abstract, Ann Neurol)

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Genistein in Sanfilippo disease: A randomized controlled crossover trial. Authors de Ruijter J, Valstar MJ, Narajczyk M, Wegrzyn G, Kulik W, Ijlst L, Wagemans T, van der Wal WM, Wijburg FA. Journal Ann Neurol. 2012 Jan;71(1):110-20. doi: 10.1002/ana.22643. Affiliation Department of Pediatrics and Amsterdam Lysosome Centre “Sphinx”, University of Amsterdam, Amsterdam, The Netherlands. Abstract OBJECTIVE … Continue reading →

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Shire proposes Natural History study of MPS 3B

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The clinical trial plan for the U.S. natural history study for Sanfilippo Syndrome Type B has just been published in clinicaltrials.gov. It is essentially the same plan as the current Natural History study for Type A. We have reproduced it here and linked to the official clinical trials record. This is further evidence that Shire is proceeding rapidly with a plan to carry out clinical trials of enzyme replacement for MPS 3B.
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Ultragenyx In-Licenses Enzyme Replacement Therapy for MPS 7 from St. Louis Univ

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Press release from Marketwatch, January 5, 2012. MPS 7 Patients May at Last have an Opportunity for Enzyme Replacement Therapy NOVATO, Calif., Jan. 5, 2012 /PRNewswire via COMTEX/ — Ultragenyx Pharmaceutical, Inc., a biotechnology company focused on developing treatments for rare and ultra-rare genetic disorders, today announced it has in-licensed an enzyme replacement therapy program … Continue reading →

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Shire, Atlas Venture team up to mine for rare disease therapies

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Dublin-based Shire’s ($SHPGY) Human Genetic Therapies unit and venture capitalists from Atlas Venture have formed a multiyear alliance to hunt for new investments in the ripe field of treating rare diseases, Cambridge, MA-based Atlas revealed. For their part in the collaboration, Atlas’ partners plan to use their years of experience in starting new biotech companies. … Continue reading →

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A noninvasive diagnostic method for MPS

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Biomed Opt Express. 2011 October 1; 2(10): 2741–2748. Noninvasive diagnosis of mucopolysaccharidosis via depth-resolved optical spectroscopy of the outer ear Richa Mittal, Philip H. Schwartz, David J. Brick, and Chad A. Lieber* CHOC Research Institute, CHOC Children’s Hospital, 455 South Main St., Orange, CA 92868, USA *Email: clieber@choc.org Abstract Current diagnostics for lysosomal storage disorders … Continue reading →

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Stem cell transplantation in Hurler syndrome patients

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Pediatr Transplant. 2011 Dec;15(8):861-869. doi: 10.1111/j.1399-3046.2011.01595.x. Variable disease progression after successful stem cell transplantation: Prospective follow-up investigations in eight patients with Hurler syndrome. Grigull L, Sykora KW, Tenger A, Bertram H, Meyer-Marcotty M, Hartmann H, Bültmann E, Beilken A, Zivicnjak M, Mynarek M, Osthaus AW, Schilke R, Kollewe K, Lücke T. Department of Paediatric IV … Continue reading →