5/21/2008 - PTC Therapeutics Announces Data Supporting Cough Frequency as a New Outcome Measure in Evaluating Treatments for Cystic Fibrosis

4/23/2008 - PTC Therapeutics Announces Initiation of Phase 2b Registration-Directed Clinical Trial of PTC124 in Duchenne/Becker Muscular Dystrophy

2/4/2008 - PTC Therapeutics Announces Publication of Preclinical Data in PNAS

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PTC THERAPEUTICS ANNOUNCES DATA FROM ADDITIONAL CLINICAL STUDIES OF PTC124 IN CYSTIC FIBROSIS CONFIRMING ACTIVITY
- Data Presented at the 31st European Cystic Fibrosis Conference -

South Plainfield, NJ and Prague, Czech Republic- June 12, 2008 - PTC Therapeutics, Inc. (PTC) today announced promising new data from two studies of PTC124 in cystic fibrosis (CF). Results from an Israeli Phase 2a extension study evaluating three months of oral PTC124 treatment in adult patients with nonsense-mutation-mediated CF demonstrated statistically significant improvements in the function of the cystic fibrosis transmembrane conductance regulator (CFTR) protein and a statistically significant mean [28%] decrease in the frequency of cough, one of the most prominent and burdensome CF-related symptoms. Results from the Hadassah University Hospital in Israel were presented today by Michael Wilschanski, M.D., Director, Pediatric Gastroenterology, and by Eitan Kerem, M.D., principal investigator and head of the Department of Pediatrics and Cystic Fibrosis Center. Separately, results from a European study evaluating 14-day courses of PTC124 in pediatric patients with nonsense-mutation-mediated CF confirmed the CFTR activity observed in previous short-term studies in adult patients. Data from the European study were presented today by Isabelle Sermet-Gaudelus, M.D., Ph.D., principal investigator at l’Hôpital Necker-Enfants Malade.

Patients with CF lack adequate levels of the CFTR protein, a chloride channel that maintains proper hydration of epithelial surfaces in the lung, pancreas, and liver. Patients with nonsense-mutation-mediated CF generally have a severe form of CF because virtually no CFTR protein is produced. Previous studies of PTC124 adult patients with CF evaluated nasal transepithelial potential difference (TEPD) as a surrogate for the presence and activity of the CFTR protein. Across the short- and long-term clinical trials at high and low doses of PTC124, TEPD assessments showed statistically significant improvements of mean CFTR-dependent chloride secretion in the airways.

The Phase 2a extension study in Israel assessed 3 months of oral PTC124 therapy at two different dose levels in 19 adult men and women with nonsense-mutation-mediated CF who had participated in a prior short-term PTC124 Phase 2a study. More than 90% of the patients had chronic CF-related lung infection and also had CF-induced pancreatic insufficiency. Results from the study showed that treatment with PTC124 resulted in statistically significant (p<0.001) improvements in CFTR function as measured by TEPD in both dose groups. The proportion of patients showing improvement in TEPD chloride secretion increased over time in the extension study. Trends towards improvements in mean FEV1 and FVC values were observed. Baseline data showed that CF patients cough a remarkable 643 times per day on average, with a range of 324 to 1,569 coughs per day. In comparison, healthy individuals generally cough fewer than 16 times per day, according to the European Respiratory Journal (Hsu 1994). Patients receiving PTC124 experienced a mean [28%] decrease in cough frequency by the end of three months of therapy (p<0.01). PTC124 was generally well tolerated, resulting in excellent mean compliance with the treatment regimen (>90%).

“Three months of treatment with PTC124 in nonsense-mutation-mediated CF patients was associated with time-dependent improvements in nasal TEPD chloride conductance, pulmonary function and cough – important markers suggesting the potential for benefit in patients with CF,” stated Dr. Wilschanski. “PTC124 increases CFTR-mediated chloride secretion in patients with a variety of nonsense mutation types, which suggests a broad spectrum of activity across one of the major subpopulations in CF.”

Dr. Kerem added, “The impact on cough that we observed in this study by objective measurement is particularly notable given that cough is one of the major symptomatic manifestations of the underlying disease process in CF. The reduction in cough achieved with PTC124 in this three-month study suggests secondary clinical effects of drug activity. Based on these findings, we believe that objective measurement of cough may offer a meaningful new way to evaluate drug efficacy in future CF clinical trials.”

In a separate Phase 2a study in Europe, data are currently available from 21 children who received two 14-day treatment courses of oral PTC124 therapy at two different dose levels. Patients ranged in age from six to 18 years. All had nonsense-mutation-mediated disease, pathological lung infection, and pancreatic insufficiency. Statistically significant (p<0.05) increases in the proportion of epithelial cells showing surface staining with the CFTR protein were observed. In addition, statistically significant (p<0.05) improvements in CFTR-mediated chloride conductance as measured by TEPD were evident. PTC124 was generally well tolerated in pediatric patients and mean compliance with treatment was excellent (>95%).

“We are encouraged to see the activity of PTC124 observed in adults reproduced in a pediatric population in France and Belgium,” commented Dr. Sermet-Gaudelus. “PTC124 causes the missing protein to be made, to be located in the right place in the cell, and to have functional effect. Combined with the generally well-tolerated profile of PTC124, we believe these data support inclusion of pediatric patients in future clinical trials.”

“We are gratified by these results from our Israeli, French, and Belgian investigators, which demonstrated the activity of PTC124 in patients across a variety of age ranges, geographies, and nonsense mutation types,” stated Langdon Miller, M.D., Chief Medical Officer of PTC. “These data offer the basis for initiating a randomized, controlled Phase 2b study later this year to evaluate the clinical benefit of PTC124 in adults and children with nonsense-mutation-mediated CF.”

ABOUT CYSTIC FIBROSIS
Cystic fibrosis (CF) is among the most common life-threatening genetic disorders worldwide. According to the Cystic Fibrosis Foundation, CF affects approximately 30,000 adults and children in the United States and, according to the European Cystic Fibrosis Foundation, it affects a similar number of patients in Europe. There is a commercially available genetic test to determine if a patient’s CF is caused by a nonsense mutation, and it is estimated that nonsense mutations are the cause of CF in approximately 10% of patients in the United States. There is currently no available therapy to correct defective CFTR production and function. Instead, available treatments for CF are designed to alleviate the symptoms of the disease. These treatments include chest physical therapy to clear the thick mucus from the lungs, antibiotics to treat lung infections and a mucus-thinning drug designed to reduce the number of lung infections and improve lung function. In addition, the majority of cystic fibrosis patients take pancreatic enzyme supplements to assist with food absorption in digestion. There is a significant unmet medical need for treatments that address the underlying cause of CF. More information regarding CF is available through the Cystic Fibrosis Foundation (www.cff.org).

ABOUT PTC124
PTC124 is an 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 stop the translation process, preventing production of a functional protein. In Phase 2a clinical trials in nonsense-mutation-mediated cystic fibrosis (CF) and in nonsense-mutation-mediated Duchenne muscular dystrophy (DMD), PTC124 has demonstrated the ability to produce functional protein across a variety of nonsense mutation types. Across all clinical studies to date, PTC124 has been generally well tolerated and has achieved target plasma concentrations that have been associated with activity in preclinical models. PTC124 is currently in Phase 2b development with the goal of demonstrating that increasing functional protein levels in patients with nonsense-mediated genetic disorders may provide clinical benefits.

ABOUT PTC THERAPEUTICS INC.
PTC is a biopharmaceutical company focused on the discovery, development and commercialization of orally administered, proprietary, small-molecule drugs that target post-transcriptional control processes. Post-transcriptional control processes regulate the rate and timing of protein production and are of central importance to proper cellular function. PTC’s internally discovered pipeline addresses multiple therapeutic areas, including genetic disorders, oncology, and infectious diseases. In addition, PTC has developed proprietary technologies and extensive knowledge of post-transcriptional control processes that it applies in its drug discovery and development activities, including the Gene Expression Modulation by Small-molecules (GEMS) technology platform, which has been the basis for collaborations with leading pharmaceutical and biotechnology companies such as Pfizer, Celgene, CV Therapeutics and Schering-Plough. For more information, visit the company’s website, www.ptcbio.com.

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5/30/2008 - PTC124 Featured AT THIRD ANNUAL CONGRESS OF MYOLOGY
-- PTC Announces Initiation of Additional Phase 2b Clinical Trial Sites in Europe --

SOUTH PLAINFIELD, NJ- May 30, 2008- PTC Therapeutics, Inc. (PTC) today announced that PTC124, the company’s orally delivered investigational new drug for the treatment of genetic disorders due to nonsense mutations, was featured in a symposium at Myology 2008, the Third Annual Congress of Myology, on Friday, May 30 in Marseilles. The Congress serves as the annual meeting of The Association Française contre les Myopathies (French Muscular Dystrophy Association) and focuses on research, therapies and clinical trials for various forms of muscular dystrophy.

PTC124 is being studied in Duchenne muscular dystrophy (DMD), a progressive muscle disorder in which patients lack dystrophin, a protein that is critical to the structural stability of muscle fibers. PTC recently launched a global, registration-directed Phase 2b trial in DMD and Becker muscular dystrophy (BMD) to evaluate the efficacy of PTC124 as measured by improvements in the walking ability of patients with this progressive genetic disease.

Data from the previous Phase 2a study were presented and discussed by a panel of leading physicians and researchers, including: Dr. Thomas Voit, M.D., Medical and Scientific Director of the Myology Institute and Dr. Richard Finkel, M.D., Director of the Neuromuscular Program, Children’s Hospital of Philadelphia, PA.

“PTC124 represents a promising new therapy for DMD/BMD, as there are currently no available treatments that address the underlying cause of this disease,” stated Dr. Voit. “The Phase 2b PTC124 clinical trial sets a gold standard for future clinical trials in muscular dystrophies. I am delighted to be part of these groundbreaking studies.”

Presenters at the symposium also announced that the Phase 2b trial of PTC124 was recently initiated in France, Belgium and Sweden and will begin enrolling patients in additional European sites in the coming months, broadening the reach of the clinical development program.

Genetic disorders, such as DMD and cystic fibrosis (CF), are caused by genetic alterations, known as mutations. By targeting a specific type of genetic alteration – nonsense mutations – PTC124 bypasses the defect and leads to the restoration of a functional protein. The company has catalogued over 2,400 distinct genetic disorders for which nonsense mutations are the cause of the disease in a significant percentage of patients. Nonsense mutations inactivate gene function and are known to cause anywhere from five to 70 percent of the individual cases of most of these inherited diseases.

In preclinical models of genetic diseases harboring nonsense mutations, PTC124 was shown to regulate post-transcriptional control processes by restoring full-length, functional proteins. Post-transcriptional control processes are the cellular regulatory events that take place after an RNA molecule is copied from DNA. These processes are critical to proper cellular function and provide an opportunity for therapeutic intervention in a broad range of genetic disorders through the modulation of protein levels.

“We are pleased to have the opportunity to share our exciting clinical progress regarding PTC124 with the myology community,” said Langdon Miller, M.D., Chief Medical Officer of PTC. “Through its specificity and novel mechanism of action, PTC124 has shown potential to address a broad range of genetic disorders due to nonsense mutations. We look forward to continuing to advance our clinical programs in DMD and CF and evaluating PTC124 in a number of additional nonsense-mutation-mediated genetic disorders.”

ABOUT DMD/BMD
Duchenne and Becker muscular dystrophy (DMD/BMD) are progressive muscle disorders 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 (www.mdausa.org), Parent Project Muscular Dystrophy (www.parentprojectmd.org), and the Association Française contre les Myopathies (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 of the disease. The FDA has granted PTC124 Subpart E designation for expedited development, evaluation, and marketing and has granted 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 CF and DMD by the European Commission. PTC124’s development has been supported by grants from the Muscular Dystrophy Association (MDA), Cystic Fibrosis Foundation Therapeutics, Inc. (CFFT), Parent Project Muscular Dystrophy (PPMD), FDA’s Office of Orphan Products Development (OOPD) and by General Clinical Research Center grants from the National Center for Research Resources (NCRR). For additional information on the PTC124 clinical trial, please visit www.clinicaltrials.gov and search using the keyword: PTC124.

ABOUT PTC THERAPEUTICS INC.
PTC is a biopharmaceutical company focused on the discovery, development and commercialization of orally administered, proprietary, small-molecule drugs that target post-transcriptional control processes. Post-transcriptional control processes regulate the rate and timing of protein production and are of central importance to proper cellular function. PTC’s internally-discovered pipeline addresses multiple therapeutic areas, including genetic disorders, oncology and infectious diseases. In addition, PTC has developed proprietary technologies and extensive knowledge of post-transcriptional control processes that it applies in its drug discovery and development activities, including the Gene Expression Modulation by Small-molecules (GEMS) technology platform, which has been the basis for collaborations with leading pharmaceutical and biotechnology companies such as Pfizer, Celgene, CV Therapeutics and Schering-Plough. For more information, visit the company’s website www.ptcbio.com.

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PTC THERAPEUTICS ANNOUNCES DATA SUPPORTING COUGH FREQUENCY AS A NEW OUTCOME MEASURE IN EVALUATING TREATMENTS FOR CYSTIC FIBROSIS
- Findings Show Cystic Fibrosis Patients Cough More Than 600 Times Per Day -

SOUTH PLAINFIELD, NJ- May 21, 2008- PTC Therapeutics, Inc. (PTC) today announced new data suggesting that the quantification of cough frequency may offer a clinically meaningful outcome measure in cystic fibrosis (CF). Cough is one of the most prominent and burdensome disease-related symptoms in CF. According to data presented today at the 2008 International Conference of the American Thoracic Society, patients with CF cough a remarkable 324 to 1,569 times per day, with an average of 643 coughs per day. In comparison, healthy individuals generally cough fewer than 16 times in an entire day, according to the European Respiratory Journal (Hsu 1994).

“Cough is one of the major symptomatic manifestations of the underlying disease process in CF,” stated Eitan Kerem, M.D., head of the Department of Pediatrics and Cystic Fibrosis Center, Hadassah University Hospital.  “Chronic excessive coughing is a burden on CF patients and a source of anxiety for caregivers and loved ones.  Frequent and intense coughing has a profound effect on the overall quality of life of the patient – compromising work, school, sleep and social interactions.”

CF is among the most common life-threatening genetic disorders worldwide and affects nearly 70,000 adults and children.  Patients with CF lack the cystic fibrosis transmembrane conductance regulator (CFTR) protein, a chloride ion channel that maintains proper hydration of epithelial cells in the lungs, pancreas, and liver.  Loss of the CFTR protein leads to chronic airway inflammation in association with obstruction and mucopurulent secretions, all of which provoke persistent coughing.  While there are approved palliative treatments for CF, clinical development efforts would benefit from reliable quantitative endpoints that are clinically meaningful because they directly measure changes in how a patient feels and functions. 

“The ability to quantify cough represents a significant step forward in our understanding of one of the most prominent symptoms of CF,” added Preston Campbell, III, M.D., Executive Vice President of Medical Affairs at the Cystic Fibrosis Foundation.  “A significant reduction in cough frequency would be of real value to patients.”
The study was designed to assess cough frequency as a measure of clinical benefit.  Quantitative measurement was achieved using a new technology, the VivoMetrics® LifeShirt®, which integrates cough signals from chest wall motion transducers and a throat microphone and stores the data for computer analysis.  FEV1 (Forced Expiratory Volume in the first second) and FVC (forced vital capacity) – key measures of lung function - were assessed by spirometry, and patients completed a symptom survey.

Patients included 19 adults not in CF exacerbation.  Although there was occasional neck pressure due to the throat microphone, compliance was excellent, with cough data collected for a median of 24 hours.  Cough frequency averaged 643 coughs per day (ranging from 324 to 1,569 coughs per day) and tended to increase with lower FEV1 and greater age.

“Anecdotal information concerning cough frequency in CF patients led us to assess cough quantitatively using the LifeShirt®,” said Langdon Miller, M.D., Chief Medical Officer of PTC.  “The cough frequency data announced today highlights the potential for cough assessment as an outcome measure that may be used in the development of new therapies for CF.  We look forward to presenting data on the effect of PTC124 on cough frequency at the 31st annual European Cystic Fibrosis Society Conference in June, and to initiating longer-term trials later this year to further evaluate the clinical efficacy of PTC124 in patients with CF.”

ABOUT CYSTIC FIBROSIS
Cystic fibrosis (CF) is among the most common life-threatening genetic disorders worldwide. According to the Cystic Fibrosis Foundation, CF affects approximately 30,000 adults and children in the United States and, according to the European Cystic Fibrosis Foundation, it affects a similar number of patients in Europe.  CF occurs in approximately one of every 3,500 live births, with approximately 1,000 new cases diagnosed each year in the United States.  There is a commercially available genetic test to determine if a patient’s CF is caused by a nonsense mutation, and it is estimated that nonsense mutations are the cause of CF in approximately 10% of patients in the United States.  There is currently no available therapy to correct defective CFTR production and function.  Instead, available treatments for CF are designed to alleviate the symptoms of the disease.  These treatments include chest physical therapy to clear the thick mucus from the lungs, antibiotics to treat lung infections and a mucus-thinning drug designed to reduce the number of lung infections and improve lung function.  In addition, the majority of cystic fibrosis patients take pancreatic enzyme supplements to assist with food absorption in digestion.  There is a significant unmet medical need for treatments for the underlying cause of CF. More information regarding CF is available through the Cystic Fibrosis Foundation (www.cff.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).

ABOUT PTC THERAPEUTICS INC.
PTC is a biopharmaceutical company focused on the discovery, development and commercialization of orally administered, proprietary, small-molecule drugs that target post-transcriptional control processes.  Post-transcriptional control processes regulate the rate and timing of protein production and are of central importance to proper cellular function.  PTC’s internally-discovered pipeline addresses multiple therapeutic areas, including genetic disorders, oncology and infectious diseases.  In addition, PTC has developed proprietary technologies and extensive knowledge of post-transcriptional control processes that it applies in its drug discovery and development activities, including the Gene Expression Modulation by Small-molecules (GEMS) technology platform, which has been the basis for collaborations with leading pharmaceutical and biotechnology companies such as Pfizer, Celgene, CV Therapeutics and Schering-Plough.  For more information, visit the company’s website, www.ptcbio.com. 

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PTC THERAPEUTICS ANNOUNCES INITIATION OF PHASE 2B REGISTRATION-DIRECTED
CLINICAL TRIAL OF PTC124 IN DUCHENNE/BECKER MUSCULAR DYSTROPHY

First Registration Study of an Investigational Drug for Duchenne/Becker Muscular Dystrophy

SOUTH PLAINFIELD, NJ – April 23, 2008 - PTC Therapeutics, Inc. (PTC), today announced the initiation of an international pivotal trial of PTC124 in patients with Duchenne/Becker muscular dystrophy (DMD/BMD) due to a nonsense mutation. The primary objective of this registration-directed Phase 2b trial is to demonstrate the efficacy of PTC124 as measured by improvements in the walking ability of patients with this progressive genetic disease.

“DMD/BMD is a disorder with a significant need for better treatment options, and we are very encouraged by the promising results we have seen to date with PTC124,” said Brenda Wong, M.D., Associate Professor of Pediatrics and Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, who was involved in the Phase 2a study and is one of the trial’s lead investigators. “We believe that the safety profile of PTC124 and activity we have seen in the Phase 2a studies clearly support the initiation of this longer-term, registration-directed efficacy and safety study. We are very pleased to be a part of this groundbreaking trial.”

Patients with DMD and BMD are boys and young men who lack dystrophin, a protein that is critical to the structural stability of muscle fibers. Patients develop progressive muscle weakness that leads to loss of ambulation, wheelchair dependency, and eventual decline in respiratory and cardiac function. 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.

PTC124 is a novel, orally delivered drug in development for the treatment of patients with genetic disorders due to a nonsense mutation, a type of mutation found in approximately 13% of patients with DMD. In this double-blind study, patients will be randomized to receive placebo, or one of two dose levels of PTC124, three times per day. Eligible patients will be boys with nonsense-mutation-mediated DMD/BMD who are at least 5 years of age and are able to walk at least 75 meters or approximately 80 yards in six minutes. PTC expects to enroll a total of 165 patients at approximately 35 investigational sites; all study subjects will undergo 48 weeks of blinded treatment. Thereafter, all participants, including those who have been receiving placebo, will be eligible to enroll in an open-label PTC124 extension study.

The primary outcome measure is the total distance walked during a 6-minute walk test, a test of ambulation that has now been standardized for boys with DMD/BMD through a collaboration with noted investigator, Craig McDonald, M.D., at University of California at Davis. Other outcome measures in the Phase 2b study will evaluate activity at home, muscle and heart function, strength, cognitive ability, muscle integrity, and muscle dystrophin expression. Safety parameters, compliance, and PTC124 blood levels also will be monitored.

“We are very pleased to announce the initiation of the Phase 2b trial for PTC124 in boys with DMD/BMD,” said Langdon Miller, M.D., Chief Medical Officer of PTC. “We applaud the patients, parents, and clinicians who have committed themselves to this effort. The design of this trial reflects our ongoing collaboration with the advocacy community, investigators at leading neuromuscular centers, and the U.S. and European regulatory agencies. We hope that PTC124 will soon offer a treatment that addresses the underlying cause of the disease for patients with nonsense-mediated DMD/BMD and that the development of PTC124 will set the stage for improving therapeutic options in this disabling and life-threatening disorder.”

Stuart W. Peltz, Ph.D., President and Chief Executive Officer of PTC Therapeutics added, “Initiation of the Phase 2b trial is an important milestone for PTC. The trial builds on the results we have achieved to date in DMD and cystic fibrosis (CF) and constitutes a major step forward in establishing the potential for PTC124 as a paradigm shift in the treatment of genetic disorders. Our future plans for PTC124 include the initiation of longer-term studies in CF, as well as additional proof-of-concept studies in other indications.”

ABOUT DUCHENNE AND BECKER MUSCULAR DYSTROPHY
Duchenne and Becker muscular dystrophy (DMD/BMD) are progressive muscle disorders 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 (www.mdausa.org), the Parent Project Muscular Dystrophy (www.parentprojectmd.org), and the Association Française contre les Myopathies (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 halt 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).

It is estimated that 13% of the cases of DMD and 10% of the cases of CF are due to nonsense mutations. PTC believes that PTC124 is potentially applicable to a broad range of other genetic disorders in which a nonsense mutation is the cause of the disease. The FDA has granted PTC124 Subpart E designation for expedited development, evaluation, and marketing and has granted 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 CF and DMD by the European Commission. PTC124’s development has been supported by grants from the Muscular Dystrophy Association (MDA), Cystic Fibrosis Foundation Therapeutics, Inc. (CFFT), Parent Project Muscular Dystrophy (PPMD), FDA’s Office of Orphan Products Development (OOPD) and by General Clinical Research Center grants from the National Center for Research Resources (NCRR). For additional information on the PTC124 clinical trial, please visit www.clinicialtrials.gov and search using the keyword: PTC124.

ABOUT PTC THERAPEUTICS, INC.
PTC is a biopharmaceutical company focused on the discovery, development and commercialization of orally administered, proprietary, small-molecule drugs that target post-transcriptional control processes. Post-transcriptional control processes regulate the rate and timing of protein production and are of central importance to proper cellular function. PTC’s internally-discovered pipeline addresses multiple therapeutic areas, including genetic disorders, oncology and infectious diseases. In addition, PTC has developed proprietary technologies and extensive knowledge of post-transcriptional control processes that it applies in its drug discovery and development activities, including the Gene Expression Modulation by Small-molecules (GEMS) technology platform, which has been the basis for collaborations with leading pharmaceutical and biotechnology companies such as Pfizer, Celgene, CV Therapeutics and Schering-Plough. For more information, visit the company’s website, www.ptcbio.com.

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PTC THERAPEUTICS ANNOUNCES PUBLICATION OF PRECLINICAL DATA IN PNAS

Data Show PTC124 Addresses Underlying Cause of Genetic Disorders and Restores Protein Function in Cystic Fibrosis Model