Rare Disease Report
Patients & Caregivers

Lysosomal Storage Disorders

After WORLDSymposium, Rare Disease Report spoke with Loren D.M. Pena, M.D., Ph.D., who presented new safety data for neoGAA in late-onset Pompe.
Hartmann Wellhoefer, M.D., head of medical affairs at Shire, sits down with RDR at the 14th Annual WORLDSymposium to discuss the company's recent data for lysosomal storage diseases.
Results from an observational case series published in the Orphanet Journal of Rare Diseases conclude that ezetimibe can be an effective, safe, and sustainable treatment option for LAL-D.
This morning, Sobi, announced that the FDA has issued a Study may proceed letter for the first study in humans, thereby accepting the investigational new drug application for sobi003, and the regulatory agency granted Fast Track status to the product candidate.
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.
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