Rare Disease Report
Patients & Caregivers

Lysosomal Storage Disorders

New data presented at the NASPGHAN meeting in Las Vegas.
Attention researchers: you have until December 1st to submit your abstract
Data indicates some progress in being made in how long these patients survive, the reality is that most are still dying at fairly young ages
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.
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