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Biopharmaceuticals Neurology

 News Release - January 27, 2006

PTC Therapeutics Initiates Phase 2 Study of PTC124 in Duchenne Muscular Dystrophy

SOUTH PLAINFIELD, N.J., Jan. 27 (HSMN NewsFeed) -- PTC Therapeutics, Inc. (PTC), a biopharmaceutical company focused on the discovery, development, and commercialization of small-molecule drugs targeting post-transcriptional control mechanisms, today announced the initiation of a Phase 2 study of PTC124 in patients with Duchenne muscular dystrophy (DMD) due to a nonsense mutation. PTC124 is a novel, orally administered drug that targets nonsense mutations and is being investigated initially as a treatment for DMD and cystic fibrosis (CF), with the potential to treat a number of other genetic disorders caused by nonsense mutations.

"The initiation of the Phase 2 study of PTC124 in DMD marks a wonderful milestone for PTC in its search for new treatments for DMD," commented Stuart W. Peltz, Ph.D., President and CEO of PTC, adding, "We share the gratification of this achievement with patients, their families, patient advocacy groups, and investigators who have supported and helped guide our efforts. We hope that information gained from this study will support the further development of PTC124, and complement our efforts to discover and develop additional therapies for boys with DMD."

The Phase 2 clinical study is enrolling patients who have DMD due to the presence of a nonsense mutation in the dystrophin gene. The primary endpoint of this Phase 2 multi-site, open-label, dose-ranging clinical study is assessment of muscle dystrophin expression in response to treatment with PTC124. Other assessments include the presence of dystrophin mRNA and dystrophin-related proteins, muscle function, compliance with treatment, safety, and pharmacokinetics.

"With the initiation of the Phase 2 study, we hope to establish proof-of- concept for PTC124 in nonsense-mutation-mediated DMD," said Langdon Miller, M.D., Chief Medical Officer at PTC. "Building on the positive preclinical data with PTC124 that Doctors Lee Sweeney and Elisabeth Barton have generated in their laboratories at the University of Pennsylvania, we have worked closely with scientists and investigators to design a study that can examine whether the encouraging preclinical findings with PTC124 translate to the clinical setting. Demonstration of pharmacological activity in this study would be an important step toward evaluating the longer-term clinical benefits of PTC124."

Dr. Valerie Cwik, Medical Director of the Muscular Dystrophy Association (MDA), commented: "The start of the PTC124 study opens a new era in clinical trials for DMD, by testing a drug specifically aimed at overcoming the genetic defect that causes the disease. We at MDA are very excited that this potential treatment is now in clinical trials for DMD."

PTC has commenced recruitment for the Phase 2 study in DMD at the Children's Hospital of Philadelphia in Philadelphia, PA, the Cincinnati Children's Hospital Medical Center in Cincinnati, OH and the University of Utah in Salt Lake City, UT. More details regarding the design and conduct of this study are available at

"Given the lack of effective targeted treatment for DMD, there is tremendous interest in the development of PTC124 within the DMD patient and scientific communities," commented Dr. Richard Finkel, Director, Neuromuscular Program, Children's Hospital of Philadelphia. "We are excited by the results in the animal model and are delighted to collaborate with PTC and the other investigational sites in designing and conducting this important study in boys with DMD."

PTC also has Phase 2 clinical trials for PTC124 underway with CF patients in the United States and in Israel. More information regarding these trials can be found at

About PTC Therapeutics, Inc.

PTC is a privately-held biopharmaceutical company focused on the discovery, development, and commercialization of small-molecule drugs targeting post-transcriptional control mechanisms. Post-transcriptional control processes are the sequence of events in the cell that ultimately regulate the rate and timing of all protein production. PTC discovers and develops small molecule drugs that alter these processes by selectively modulating how RNA is used to produce proteins. This approach enables PTC to advance its drug discovery programs rapidly from targets to preclinical and clinical drug candidates, building a pipeline across multiple therapeutic areas including genetic disorders, oncology, and infectious diseases.

About PTC124

PTC124 represents a first-in-class, orally delivered investigational new drug for the treatment of genetic disorders due to nonsense mutations. Nonsense mutations are single-point alterations in the genetic code that prematurely halt the translation process, producing a shortened, non- functional protein. In pre-clinical trials, PTC124 allowed the cellular machinery to bypass the nonsense mutation, continue the translation process, and thereby restore the production of a full-length, functional protein. PTC124 has demonstrated activity in preclinical genetic disease models harboring nonsense mutations. In Phase 1 clinical studies, PTC124 was generally well tolerated, achieved target plasma concentrations that have been associated with activity in preclinical models, and did not induce ribosomal readthrough of normal stop codons. Pharmacokinetic modeling of the Phase 1 results has allowed development of a dosing regimen for the Phase 2 studies in cystic fibrosis (CF) and Duchenne muscular dystrophy (DMD). It is estimated that 10% of the cases of CF and 15% of the cases of DMD are due to nonsense mutations. In addition to CF and DMD, other potential indications include hemophilia, neurofibromatosis, retinitis pigmentosa, epidermolysis bullosa, and lysosomal storage disorders. PTC124 may represent a unique opportunity to use a single small-molecule drug to address multiple chronic and life- threatening diseases of high unmet medical need. The FDA has granted PTC124 fast-track designation for the treatment of CF and orphan drug designations for the treatment of CF and DMD due to nonsense mutations. PTC124 has also been granted orphan drug status for the treatment of DMD and CF by the Committee for Orphan Medicinal Products (COMP) of the European Medicines Agency (EMEA). PTC124's development is supported by grants from the Muscular Dystrophy Association (MDA), Cystic Fibrosis Foundation Therapeutics, Inc. (CFFT), FDA's Office of Orphan Products Development (OOPD), and by General Clinical Research Center grants from the National Center for Research Resources (NCRR).

About Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is a progressive muscle disorder that causes the loss of both muscle function and independence. DMD 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). More information regarding DMD is available through the Muscular Dystrophy Association ( and the Parent Project Muscular Dystrophy (

Source: PTC Therapeutics

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