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
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
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
From the Yale Daily News Jimmy Lin ’01 is one of 25 winners of the annual TED Fellowship for the organization he founded, Rare Genomics Institute (RGI), TED announced today. Lin started the nonprofit six months ago as a way to help patients with rare diseases pay for expensive genome sequencing and use the results … Continue reading
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
Genetic and pathological links between Parkinson’s disease and the lysosomal disorder Sanfilippo syndrome (Abstract). This abstract briefly reports work done by Winder-Rhodes, et.al. at the Department of Clinical Neurosciences, University of Cambridge, Cambridge, United Kingdom. Background: Parkinson’s disease (PD) is a common neurodegenerative disorder of unknown etiology. The characteristic α-synuclein aggregation of PD is also … Continue reading
Transcend therapeutic development program VANCOUVER, BRITISH COLUMBIA–(Marketwire – Nov. 1, 2011) – biOasis Technologies Inc. (TSX VENTURE:BTI) today announced test results from its Transcend therapeutic development program directed towards the delivery of targeted therapeutic compounds to the brain which showed that Transcend can deliver an anti-amyloid beta antibody to the brain. The work was conducted … Continue reading
Initiatives to De-Risk Drug Development Could Include Redesigning Clinical Trial Requirement FDA officials have pointed out that orphan drugs must prove probable benefit and safety to the same degree as all other drugs. The complexity of these diseases added to FDA’s stance on approval translates into the fact that drug development for orphan diseases can … Continue reading
GenEngNews: UK-based Oxyrane initiates ERT therapy for Pompe Disease Enzyme replacement therapies (ERT) firm Oxyrane raised $26.5 million in a series D round of financing. Participants in the fundraising round included Forbion Capital Partners, Morningside Groups, and existing investor New Science Ventures. Oxyrane said it will use the funds to progress its lead candidate through … Continue reading
A full pdf copy of this article is available from us. You can download it at the bottom of the abstract. Why are behaviors of children suffering from various neuronopathic types of mucopolysaccharidoses different? Authors: Węgrzyn G, Jakóbkiewicz-Banecka J, Narajczyk M, Wiśniewski A, Piotrowska E, Gabig-Cimińska M, Kloska A, Słomińska-Wojewódzka M, Korzon-Burakowska A, Węgrzyn A. … Continue reading
As drug developers race in pursuit of new treatments to control the growing diabetes problem, researchers at Albert Einstein College of Medicine of Yeshiva University have new human evidence that the brain has a hand in glucose production. The results could spark discovery and development of new brain-targeting treatments for diabetics, whose bodies lose the … Continue reading
This post is adapted from a post on the Stroke and Neurology website written by @neurolukas (find and follow him on twitter) What causes swallowing difficulties? Dysphagia means swallowing difficulty and is a common symptom among persons with neurological dysfunctions. One of the most common causes in adults is stroke. Up to 70 percent of … Continue reading