A new medication to treat Cystic Fibrosis (CF) has successfully passed the Stage II clinical trials conducted at Jerusalem’s Hadassah University Medical Center. Developed by PTC Therapeutics of South Plainfield, NJ, the experimental treatment energizes the production of a deficient protein, causing it to return to its proper function. The successful results, published in the August 21 edition of the prestigious medical journal The Lancet, immediately attracted international attention.
The medication is based on research conducted by Prof. Eitan Kerem, Chairman of Pediatrics at Hadassah University Hospital-Mt. Scopus, and Dr. Michael Wilschanski, Head of Hadassah’s Pediatric Gastroenterology Unit.
Due to a genetic mutation, Cystic Fibrosis patients suffer from a deficiency of the CFTR protein, which leads to insufficient mucus in vital organs. This deficiency arrests the development of the protein that normally preserves the mucous of healthy tissues, such as the pancreas, the liver and other organs. About 10 percent of the CF patients worldwide carry this mutation; in Israel, people with this mutation constitute the majority of patients.
The second stage of the recently completed clinical trial involved 23 adult patients with this mutation. More than 90 percent of them were in advanced stages of the disease and experiencing lung infections, diminished lung functions and failing pancreases.
During the first cycle of the clinical trial, participants received three low doses of PTC124 every day for 14 days. After 14 days without treatment, they received three high doses of PTC124 for an additional 14 days.
In two cases, production of the deficient protein increased; more than half of the patients already exhibited normal protein levels during the first cycle. Their lung functions improved and they gained weight.
"This study demonstrates the potential for personalized medicine, combining selection of patients with a specific type of genetic mutation and a drug treatment that has been specifically designed to overcome that mutation,” Prof. Kerem said. "The publication of these ground-breaking results in the Lancet offers new hope for those patients with CF due to a mutation in the CFTR gene and establishes a path forward for evaluating the efficacy and long-term safety of PTC124."
According to Stuart Peltz, Ph.D, co-founder, President and Chief Executive Officer of PTC Therapeutics, "this data is the first clinical proof of the concept upon which the medication is based. Accordingly, it should work against the mutation as a basis for the treatment of genetic diseases."
Hadasit, Hadassah’s technology transfer company responsible for the commercialization of Hadassah's intellectual property and research capabilities, orchestrated the agreement between Hadassah and PTC Therapeutics.