Rare Disease Report

Lysosomal Storage Disorders

Researchers from the Children’s Research Institute are working on the development of personalized CRISPR-Cas9 genome editing therapeutics for rare diseases, such as Pompe disease.
Final approval was given this morning to an Abbreviated New Drug Application for Miglustat 100 mg capsules for the treatment of adult patients with mild to moderate type 1 Gaucher disease.
The angle of the superior cerebellar artery outlet can be useful for monitoring the progression of basilar artery dolichoectasia in patients with Pompe, according to results in the Orphanet Journal of Rare Diseases.
Hartmann Wellhoefer, M.D., head of medical affairs at Shire, recently sat down with Rare Disease Report  to discuss the company's recent work for the rare disease community, particularly lysosomal storage diseases.
Data presented at the WORLDSymposium meeting in San Diego last month and published in the clinical journal Molecular Genetics and Metabolism concludes that pregnant women receiving enzyme replacement therapy (ERT) for Gaucher disease can continue taking it.
Data recently published in the Orphanet Journal of Rare Diseases showed that long-term improvements and stability can be achieved with taliglucerase alfa in patients with Gaucher disease.
 
John Crowley, the President and CEO of Amicus Therapeutics, sat down with Rare Disease Report at the 14th Annual WORLDSymposium in San Diego to discuss the President's mention of rare diseases.
 
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.
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