Rare Disease Report
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Lysosomal Storage Disorders

Current treatment for MPS VI is ERT [Naglazyme] or hematopoietic stem cell transplant but more treatment options are needed.
Penn is offering access to this biomarker to the orphan disease research community for all research purposes at no cost
Polaryx announced that its drug PLX-200 as a treatment for late infantile neuronal ceroid lipofuscinosis (LINCL) was granted Orphan Drug Designation by the FDA.
When you find 1 patient with Fabry disease, on average there are 5 additional family members with the disease.
Physicians should understand the Fabry disease basics but they don't have to be experts. They should, however, know where to find experts.
Dawn Laney, genetic counselor at Emory University explains the genetics of Fabry disease and how it may present in men vs women.
Fabry disease is not on the RUSP at this time. That doesn't mean it shouldn't be screened for.
Intracerebral gene therapy infusions in 4 children with Sanfilippo type B led to sustained enzyme production & improved cognitive functions.
The AAV-based gene therapy is being designed as a single intravenous infusion to treat children with the currently fatal rare disease.
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