ABOUT CYSTIC FIBROSIS
Cystic fibrosis (CF) is a life-threatening genetic disease that causes serious lung infections and digestive complications. According to the Cystic Fibrosis Foundation, CF affects approximately 30,000 adults and children in the United States and nearly 70,000 people worldwide. 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 percent of patients in the United States and Europe and over 50 percent of patients in Israel. 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 discovered by PTC Therapeutics. The drug is being developed 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, leading to production of truncated, non-functional proteins. PTC124 induces the cellular translation machinery to read through nonsense mutations, inducing production of full-length, functional proteins. PTC124 has demonstrated proof of concept in phase 2a clinical trials. Across all clinical studies to date, PTC124 has been generally well tolerated. PTC124 is currently in phase 2b development with the goal of demonstrating that increasing functional protein levels in patients with nonsense-mediated genetic disorders will safely provide clinical benefits.
PTC124 has been granted orphan drug status by the FDA and the European Commission for the treatment of CF and DMD due to nonsense mutations. The FDA has also granted PTC124 Subpart E designation for expedited development, evaluation, and marketing.
PTC has an exclusive collaboration with Genzyme Corporation to develop and commercialize PTC124 outside the U.S. and Canada. The development of PTC124 has also been supported by grants from, the Muscular Dystrophy Association, Parent Project Muscular Dystrophy, FDA's Office of Orphan Products Development, the National Center for Research Resources and notably, the Cystic Fibrosis Foundation Therapeutics Inc. (the nonprofit affiliate of the Cystic Fibrosis Foundation), which recently expanded support of PTC124 to include funding up to $25 million.
Cystic fibrosis (CF) is a life-threatening genetic disease that causes serious lung infections and digestive complications. According to the Cystic Fibrosis Foundation, CF affects approximately 30,000 adults and children in the United States and nearly 70,000 people worldwide. 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 percent of patients in the United States and Europe and over 50 percent of patients in Israel. 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 discovered by PTC Therapeutics. The drug is being developed 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, leading to production of truncated, non-functional proteins. PTC124 induces the cellular translation machinery to read through nonsense mutations, inducing production of full-length, functional proteins. PTC124 has demonstrated proof of concept in phase 2a clinical trials. Across all clinical studies to date, PTC124 has been generally well tolerated. PTC124 is currently in phase 2b development with the goal of demonstrating that increasing functional protein levels in patients with nonsense-mediated genetic disorders will safely provide clinical benefits.
PTC124 has been granted orphan drug status by the FDA and the European Commission for the treatment of CF and DMD due to nonsense mutations. The FDA has also granted PTC124 Subpart E designation for expedited development, evaluation, and marketing.
PTC has an exclusive collaboration with Genzyme Corporation to develop and commercialize PTC124 outside the U.S. and Canada. The development of PTC124 has also been supported by grants from, the Muscular Dystrophy Association, Parent Project Muscular Dystrophy, FDA's Office of Orphan Products Development, the National Center for Research Resources and notably, the Cystic Fibrosis Foundation Therapeutics Inc. (the nonprofit affiliate of the Cystic Fibrosis Foundation), which recently expanded support of PTC124 to include funding up to $25 million.