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.
Barbara-
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,
Brett
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,
Alessandra
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: www.plosone.org).
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.
