Rare Disease Report


Research into a rare neurological disorder may help researchers working on more common diseases including autism and epilepsy.
The surgery restored arm movement and function in children affected by acute flaccid myelitis.
Improvements in muscle and cardiac function were observed for 18 months in tested mice. 
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.
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