Rare Disease Report
Patients & Caregivers

Lysosomal Storage Disorders

Today, Abeona Therapeutics announced the enrollment and administration of ABO-102 (3 x 1013 vg/kg) of the first 2 patients in Cohort 3.
Sanfilippo syndrome type A is a genetic condition in which the build up of heparan sulfate leads to progressive neural degeneration.
A study published in the Orphanet Journal of Rare Diseases confirmed the role played by peripheral neuropathy in Gaucher pain.
New data indicate that Elaprase (idursulfase) provides a clinical benefit to mucopolysaccharidosis type II (MPS II; Hunter syndrome) patients.
PBS’s documentary The Gene Doctors is available. Film explores the scientific breakthroughs that are transforming rare disease patients
Ultragenyx to buy small gene therapy company (Dimensions Therapeutics)

Since 2002, NTSAD has provide 56 research grants for a total of $3.8 million.
An advocacy group is using a card game to educate doctors about ultra-rare diseases.
It is the third gene therapy the company has in its pipeline to treat a rare lysosomal disease (in addition to Fabry and Gaucher therapies)
Current treatment for MPS VI is ERT [Naglazyme] or hematopoietic stem cell transplant but more treatment options are needed.
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