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PTC124 Featured at Third Annual Congress of Myology
Date:5/30/2008

sorders that cause the loss of both muscle function and independence. DMD/BMD is perhaps the most prevalent of the muscular dystrophies and is the most common lethal genetic disorder diagnosed during childhood today. Each year, approximately 20,000 children worldwide are born with DMD (one of every 3,500 male children). It is estimated that one in 10 DMD patients are likely to have a Becker presentation, a milder form of the disease that is associated with later manifestation of symptoms. In essence, DMD and BMD represent a continuum of the same disease. More information regarding DMD and BMD is available through the Muscular Dystrophy Association (http://www.mdausa.org), Parent Project Muscular Dystrophy (http://www.parentprojectmd.org), and the Association Francaise contre les Myopathies (http://www.afm-france.org).

About PTC124

PTC124 is an orally delivered investigational new drug in Phase 2 clinical development for the treatment of genetic disorders due to nonsense mutations. Nonsense mutations are single-point alterations in the genetic code that prematurely stop the translation process, producing a shortened, non-functional protein. PTC124 has restored production of full-length, functional proteins in preclinical genetic disease models harboring nonsense mutations. In Phase 1 clinical trials, PTC124 was generally well-tolerated, achieved target plasma concentrations that have been associated with activity in preclinical models and did not induce ribosomal read through of normal stop codons. PTC124 has demonstrated pharmacodynamic proof of concept in Phase 2a clinical trials in nonsense-mutation-mediated Duchenne muscular dystrophy (DMD) and cystic fibrosis (CF).

PTC124 is potentially applicable to a broad range of other genetic disorders in which a nonsense mutation is the cause
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SOURCE PTC Therapeutics, Inc.
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