Children’s Hospital of Pittsburgh of UPMC Only Center in Pennsylvania Participating in Research Study of New Cystic Fibrosis Treatment

Children’s Hospital of Pittsburgh of UPMC is the only site in Pennsylvania taking part in a Phase III clinical trial of an investigational drug, Ataluren, to treat nonsense mutation cystic fibrosis (nmCF).

Cystic Fibrosis (CF) is a life-threatening genetic disease that causes serious lung infections and digestive complications. Patients with CF lack adequate levels of the cystic fibrosis transmembrane conductance regulator (CFTR) protein, which is necessary for normal function of the lung, pancreas, liver and other organs. In nmCF, an interruption in the genetic code – known as a nonsense mutation – prematurely stops the production of CFTR, causing the protein to be short and non-functional.

Ataluren, discovered and developed by New Jersey-based PTC Therapeutics, is a drug designed to enable the formation of functioning CFTR protein in nmCF patients.

“Current treatment options for nmCF are limited, so it’s exciting to be able to offer our patients a clinical trial of a potential protein restoration therapy,” said Joseph Pilewski, M.D., principal investigator of the study at Children’s, co-director of the Adult Cystic Fibrosis Program, and associate professor of medicine, pediatrics, and cell biology and physiology at the University of Pittsburgh School of Medicine. “Results from the Phase II study are encouraging, and completion of the Phase III study is critical to determining the efficacy and long-term safety of Ataluren.”

The trial’s primary objective is to evaluate whether Ataluren can improve lung function, which is impaired in these patients. Other outcome measures will evaluate whether Ataluren can reduce symptoms associated with nmCF, decrease exacerbations of the disease, reduce the frequency of cough, and improve patient-reported quality of life.

To be eligible, patients must be at least 6 years old and have a DNA blood test or genetic test that confirms nonsense mutation is the basis for their disease. Participants in the double-blinded trial will be randomly assigned to receive oral Ataluren or placebo three times per day for 48 weeks. Participants who successfully complete the trial will be eligible to enter an extension study lasting another 48 weeks in which every participant will receive Ataluren.

Patients interested in participating in the study at Children’s Hospital’s Antonio J. and Janet Palumbo Cystic Fibrosis Center can contact Elizabeth Hartigan, M.P.H., R.N., toll-free at 877-296-9026.

According to the Cystic Fibrosis Foundation, CF affects approximately 30,000 adults and children in the United States and nearly 70,000 people worldwide. Genetic testing is required to confirm a complete diagnosis and to determine if a patient’s disease is caused by a nonsense mutation. It is estimated that nonsense mutations are the cause of CF in 10 percent of patients in the United States. Available treatments for CF are designed to alleviate symptoms rather than correct the underlying cause of the disease. These treatments include chest physical therapy to clear 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.