Rare Disease Report

Neurology

Dipanjan Basu, PhD, is testing non-melanoma drugs, like the investigational therapy omipalisib (GSK2126458) in cultured patient cells.
The FDA has approved amifampridine (Firdapse) tablets as the first ever treatment of the rare autoimmune disorder, Lambert-Eaton myasthenic syndrome (LEMS) in adults.
 
The recently approved phenylketonuria (PKU) drug, pegvaliase, is helping patients experience less disease burden—and drastically in some cases.  
Aquestive Therapeutics’ clobazam (SYMPAZAN) oral film has been approved by the US Food and Drug administration (FDA) for the treatment of seizures associated with Lennox-Gastaut syndrome (LGS) in patients aged 2 years or older.
 
Here’s a round-up of recent designations granted by the FDA to products developed to treat rare diseases.
Investigators in the United Kingdom have found that a simple blood test reveals the earliest signs of Huntington’s disease, and may help scientists working on developing new therapeutics for the genetic disease.
New study serves as a reminder of how little is known about the clinical and biological manifestations of this form of Huntington's disease.
 
Positive interim clinical data from Genentech’s 2-part pivotal FIREFISH and SUNFISH trials evaluating risdiplam (RG7916), a potential spinal muscular atrophy (SMA) treatment, have been released.
 
Stay up-to-date on the latest rare disease news by reading the top 5 articles of the week.
In a recent interview with Rare Disease Report®, Hartmann Wellhoefer, MD, discussed the biggest challenges faced and advances being made in the fight against MPS.
 
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