SOUTH PLAINFIELD, NJ - July 7, 2005 - 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 that PTC124 has been granted orphan drug status for the treatment of Duchenne muscular dystrophy (DMD) and cystic fibrosis (CF) by the Committee for Orphan Medicinal Products (COMP) of the European Medicines Agency (EMEA). PTC124 is a novel, orally administered drug that targets nonsense mutations and is being investigated initially as a treatment for CF and DMD, with the potential to treat a number of other genetic disorders. It is estimated that 10% of CF patients and 15% of DMD patients have these diseases as a consequence of nonsense mutations.
Orphan drug designation is granted by the EMEA to promote the development of products that may offer therapeutic benefits for diseases affecting less than five in 10,000 people in the European Union (EU). The EMEA's orphan medicinal product designations are based on several criteria that include the rarity and seriousness of the condition, and the availability of other effective therapies. Orphan drug designation provides opportunities for free protocol assistance, fee reductions for access to the centralized community procedures before and after marketing authorization, and 10 years of market exclusivity following drug approval. The EMEA represents 25 EU countries, including France, Germany, Italy, Spain, and the United Kingdom. Results from Phase 1 studies have confirmed that PTC124 is orally bioavailable, generally well tolerated, and achieves target plasma concentrations that have been associated with activity in preclinical models. Pending concurrence from regulatory authorities, PTC expects to advance PTC124 into Phase 2 studies in patients with nonsense-mutation-mediated CF and DMD during the third quarter of 2005 in the US. PTC is working with patient advocacy groups and other organizations to develop studies of PTC124 in other regions of the world. "Receiving orphan drug designation for PTC124 for the treatment of CF and DMD from the EMEA is extremely gratifying. This designation is a significant step towards the development of PTC124 in Europe," said Stuart Peltz, Ph.D., President and CEO of PTC Therapeutics. ABOUT PTC THERAPEUTICS, INC. PTC is a 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's compounds alter these processes by selectively modulating how RNA is used to produce proteins. By applying this approach, PTC has advanced its drug discovery programs rapidly from targets to preclinical and clinical drug candidates, building a robust pipeline across 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. PTC124 allows the cellular machinery to bypass the nonsense mutation and continue the translation process, restoring the production of full-length, functional proteins. PTC124 has demonstrated the ability to restore full-length functional protein in preclinical genetic disease models harboring nonsense mutations. Phase 1 clinical studies confirm that PTC124 is orally bioavailable, generally well tolerated, achieves target plasma concentrations that have been associated with activity in preclinical models, and does not induce ribosomal readthrough of normal stop codons. Pharmacokinetic modeling of the Phase 1 results has allowed development of a dosing regimen for the planned 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. PTC has catalogued over 1,800 distinct rare disorders where nonsense mutations are the cause of the disease in an appreciable percentage of patients. In addition to CF and DMD, other potential indications include hemophilia, neurofibromatosis, retinitis pigmentosa, epidermolysis bullosa, and lysosomal storage disorders. PTC124 represents a unique opportunity to use a single small-molecule drug to address chronic and life-threatening diseases of high unmet medical need. Pending concurrence from regulatory authorities, Phase 2 studies in patients with CF and DMD are planned for the third quarter of 2005. PTC is working with patient advocacy and other organizations to develop studies of PTC124 in the US and in other regions of the world. 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. ABOUT DUCHENNE MUSCULAR DYSTROPHY (DMD) 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 (http://www.mdausa.org), and the Parent Project Muscular Dystrophy (http://www.parentprojectmd.org). The Muscular Dystrophy Association (MDA) has awarded PTC a grant of $1.5 million for the development of PTC124 for the treatment of Duchenne muscular dystrophy (DMD) due to a nonsense mutation. The Parent Project Muscular Dystrophy (PPMD) has awarded PTC a grant of $1 million for drug discovery efforts on other targets believed to be of therapeutic relevance for DMD. ABOUT CYSTIC FIBROSIS (CF) CF is a life-threatening, genetic disease affecting approximately 60,000 people worldwide. A defective gene causes the body to produce abnormally thick, sticky mucus that leads to chronic lung-infections and impairs digestion. More information regarding CF is available through the Cystic Fibrosis Foundation (www.cff.org). The Cystic Fibrosis Foundation Therapeutics, Inc. (CFFT) has awarded PTC $1.7 million for the development of PTC124 for the treatment of CF due to a nonsense mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. OTHER RARE DISORDERS: Information on other rare disorders can be obtained through NORD: North American Organization for Rare Disorders (www.rarediseases.org) or Eurordis: European Organization for Rare Disorders (www.eurordis.org). EUROPEAN ORGANIZATIONS CURRENTLY INVOLVED IN PLANNING FOR PTC124'S DEVELOPMENT IN EUROPE: Cystic Fibrosis: Vaincre La Mucoviscidose (French Cystic Fibrosis Association) www.vaincrelamuco.org Duchenne Muscular Dystrophy: AFM (French Association against Muscular Disorders) www.afm-france.org FOR MORE INFORMATION: INVESTORS & MEDIA Jane Baj
