'Translarna’-the first ever drug for DMD patients from PTC Theraputics
The first ever drug for Duchenne Muscular Dystrophy patients with NON-SENSE mutation
About ‘Translarna’ (Ataluren) : ‘Translarna’ is the brand name of ‘Ataluren’ from PTC Therapeutics. It is a novel, orally administered small-molecule compound for the treatment of Duchene Muscular Dystrophy patients with a nonsense mutation. Ataluren was granted conditional marketing authorization in the European Union (Economic area) for the treatment of nmDMD in ambulatory patients aged five years and older. Translarna is the first treatment approved for the underlying cause of DMD.
Also, it is available in the US only to the US patients through clinical trials because it is still an investigational drug.
Will this drug be useful to all DMD patients? NO. ‘TRANSLARNA can be used ONLY by DMD patients with NONSENSE (Point) mutation.
Most common question by parents: I have done the ‘genetic test (MLPA) to my son already. The report has identified deletions/ mutations and confirmed it as DMD. Can this drug be used by my son?
Answer: NO. MLPA test could not identify Nonsense/point mutations. Therefore, the drug cannot be used by your son without knowing whether or not he has the nonsense mutation.
How do I know whether my child has a nonsense mutation? : Gene sequencing by ‘Next Generation Sequencing (NGS) would help identify nonsense/point mutations.
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