- One of the First Therapies to Address the Underlying Cause of Cystic Fibrosis; Oral Drug May Represent New Treatment Paradigm -
SOUTH PLAINFIELD, N.J., Aug. 20 /PRNewswire/ -- New phase 2 data published today in The Lancet show that the investigational oral drug PTC124 demonstrates activity in nonsense-mutation cystic fibrosis (CF). The data show that treatment with PTC124 results in statistically significant improvements in the chloride channel function of patients with nonsense-mutation CF. The study was conducted at the Hadassah Hebrew University Hospital in Jerusalem, Israel and sponsored by PTC Therapeutics (PTC).
Patients with CF lack adequate levels of the cystic fibrosis transmembrane conductance regulator (CFTR) protein, a chloride channel which is required for normal function of the lung, pancreas, liver, and other organs. Nonsense mutations are single-point alterations in the genetic code that prematurely stop the translation process, preventing production of a full-length, functional protein. Patients with nonsense-mutation CF generally make virtually no CFTR protein and thus often have a more severe form of CF. By inducing the production of functional CFTR, PTC124 is addressing the underlying genetic defect responsible for CF. Nonsense mutations are responsible for approximately 10 percent of the cases of cystic fibrosis worldwide. However, in Israel, nonsense mutations are responsible for the majority of CF cases.
Study results: PTC124 Restored Functional Production of CFTR Protein in Patients
This Phase 2 Israeli study enrolled 23 adult patients (median age 25
years) with nonsense-mutation CF. More than 90 percent of patients had
severe CF with compromised lung function, pulmonary infection with
Pseudomonas or other pathogenic bacteria, and pancreatic insufficiency.
|SOURCE PTC Therapeutics, Inc.|
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