Therapeutic Areas
A genetic disorder is an illness caused by abnormalities known as mutations in genes or chromosomes. Most genetic disorders are quite rare and affect one person in every several thousands or millions. At PTC, we are committed to discovering and developing therapeutics for patients living with genetic disorders.
Our lead product, ataluren, is an investigational new drug designed to enable the formation of a functioning protein in patients with genetic disorders that are caused by a specific mutation, called a nonsense mutation. For more information about ataluren, click here.
Project Catalyst, our research collaboration with Parent Project Muscular Dystrophy identifies new treatments for all patients with Duchenne/Becker muscular dystrophy, regardless of the genetic mutation responsible for their disorder. For more information about Project Catalyst, click here.
About Cystic Fibrosis (CF)
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 a treatment for the underlying cause of CF. More information regarding CF is available through the Cystic Fibrosis Foundation.
Click here for information on genetic testing for cystic fibrosis
About Duchenne Muscular Dystrophy (DMD)
Duchenne muscular dystrophy (DMD) is a progressive, debilitating, and life-threatening genetic disorder. DMD is the most common and most severe form of muscular dystrophy in children.
Patients with DMD do not produce adequate levels of dystrophin, an essential protein that is critical to the structural stability of skeletal and heart muscles. Without dystrophin, normal use causes excessive damage to muscle fibers. Damaged muscle fibers are replaced with connective tissue and fat, resulting in the loss of muscle function.
As DMD progresses, patients may lose the ability to walk as early as age 10 and experience life-threatening heart and lung complications in their late teens and twenties. Early diagnosis and treatment may prevent or decrease muscle damage.
Duchenne and Becker muscular dystrophy represent a single disease continuum with the same underlying cause, the lack of dystrophin protein. Patients with Becker muscular dystrophy (BMD) typically experience initial symptoms later and have a slower disease progression than those with DMD.
Given the relentlessly progressive course of the disease and its impact on multiple organ systems, patients could benefit from therapeutic interventions at all stages of the disease. No drugs have yet been approved by the U.S. Food and Drug Administration (FDA) for the treatment of DMD/BMD. The current standard of care focuses on the alleviation of symptoms rather than the correction of the underlying cause of the disease.
There is a significant unmet medical need for a treatment for the underlying cause of DMD. More information regarding DMD is available through the Muscular Dystrophy Association, and the Parent Project Muscular Dystrophy.