Rare Disease Report

Neurology

Dr Ali Fatemi, MD, of Kennedy Krieger Institute and John Hopkins University, describes the “Awesome Disease” (LBSL) and how a young girl now inspires his research. 
 
The first patient was enrolled in a Phase 3 clinical trial of amifampridine phosphate (Firdapse) in patients with mmuscle-specific kinase (MuSK) antibody positive myasthenia gravis (MuSK-MG).
 
Positive Phase 1b/2a trial results for RT001 in patients with Friedreich’s ataxia were published this morning in the online journal Movement Disorders.
FDA exercises enforcement discretion regarding its ExeGen ATM MiniSwine model, clearing the genetically engineered (GE) to model ataxia telangiectasia (AT) for commercial use as a research tool.
 
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.
Pat Quinn, ALS Ice Bucket Challenge co-founder, rediscovers his voice. 
This morning, it was announced that everolimus (Afinitor DISPERZ) has become the first therapy to be specifically approved by the U.S. FDA to treat patients aged 2 years and older with tuberous sclerosis complex (TSC)-associated partial-onset seizures.
A new provisional patent was filed by Nutra Pharma Corporation to protect the intellectual property surrounding their development of a drug intended to treat amyotrophic lateral sclerosis.
 
QurAlis Corporation joins forces with investors MP Healthcare Venture Management (MPH), Amgen Ventures, and Alexandria Venture Investments to find a cure for ALS.
 
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