PTC Therapeutics starts phase 2 study of PTC124 for cystic fibrosis with FDA funding

By Angela McDaniels

Seattle, Dec. 5 - PTC Therapeutics Inc. said it has begun a phase 2 study of PTC124 in patients with cystic fibrosis due to a nonsense mutation in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. Patient-related costs are being funded though a two-year grant from the Office of Orphan Products Development of the U.S. Food and Drug Administration.

The primary endpoint of the study is assessment of nasal transepithelial potential difference as a measure of CFTR function in response to treatment with PTC124. Secondary assessments of the induction of CFTR cellular protein, pulmonary function, safety, pharmacokinetics and compliance will also be performed, the company said.

Study cites include the University of Alabama, Birmingham, the Denver Children's Hospital, the Johns Hopkins Hospital in Baltimore and the Rainbow Babies' and Children's Hospital in Cleveland.

"There has already been quite a bit of interest expressed by patients from other CF centers about how they can participate. All of the centers are nearly ready to go, and we hope to have preliminary results to report in 2006," said JP Clancy of the University of Alabama, Birmingham, in a PTC news release.

PTC said it also has plans to initiate a separate cystic fibrosis study of PTC124 in Israel, where nonsense-mutation-mediated cystic fibrosis is particularly prevalent, and a phase 2 study of PTC124 in Duchenne muscular dystrophy in the fourth quarter of 2005.

PTC124 is a 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, the agency said.

"PTC124 is a new type of treatment, aimed at the root cause of the disease, and the progress we have been able to achieve is due to the dedication and support of multiple researchers, investigators, clinicians and patient advocacy groups," said Stuart W. Peltz, president and chief executive officer of PTC, in a company news release.

The U.S. Food and Drug Administration has granted PTC124 fast-track designation for the treatment of cystic fibrosis. The FDA and European Medicines Agency have granted it orphan drug designations for the treatment of cystic fibrosis and Duchenne muscular dystrophy due to nonsense mutations.

Other potential indications include hemophilia, neurofibromatosis, retinitis pigmentosa, epidermolysis bullosa and lysosomal storage disorders, the company said.

Cystic fibrosis is a life-threatening genetic disease affecting 70,000 people worldwide. A defective gene coding the cystic fibrosis transmembrane conductance regulator protein causes the body to produce abnormally thick, sticky mucus that leads to chronic lung-infections and impairs digestion. It is estimated that 10% of cystic fibrosis patients have the disease due to a nonsense mutation, the company said.

PTC is a biopharmaceutical company based in South Plainfield, N.J., that develops small-molecule drugs targeting post-transcriptional control mechanisms.

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