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A new experimental oral medication for cystic fibrosis (CF) patients who carry a genetic mutation that affects 60 percent of all Jewish patients, most of which are of Ashkenazi origin, has been found "promising" by doctors at Hadassah University Medical Center on Jerusalem's Mount Scopus.
This is the first time a pill has been given to correct the genetic malfunction that causes the body to stop producing the essential protein whose absence results in CF.
The mutation in the CF transmembrane regulator gene known as "STOP" is present in more than 10% of CF patients worldwide.
Developed by PTC Therapeutics of South Plainfield, New Jersey, the experimental treatment caused the CFTR type protein to return to its proper function. In addition, the lung function and overall well-being of most of the patients who participated in the clinical trial were significantly improved.
CF is an inherited chronic disease that affects the lungs and digestive systems. The defective STOP gene contain signals that cause the CFTR protein to malfunction, leading to life-threatening lung infections and pancreatic insufficiency that stops natural enzymes from helping the body break down and absorb food.
The results of the clinical trials conducted at Hadassah and five sites in the US indicate success in restoring CFTR function.
Prof. Eitan Kerem, pediatrics chief at the hospital, and Dr. Michael Wilschanski, its director of pediatric gastroenterology, presented the initial data from the clinical trials earlier this month at the North American Cystic Fibrosis Conference in Denver. Hadassah was the only non-US medical center participant in PTC Therapeuticsâ€š clinical trial.
The treatment and trial are based on research Kerem and Wilschanski successfully conducted three years ago, proving that giving Gentamicin antibiotic as nose drops for two weeks helped correct the genetic defect.
"We were very gratified to see such remarkable improvements in CFTR function and other parameters in just a two-week treatment period," said Kerem. "We proved - for the first time in patients - that it is possible to correct genetic defects using a simple treatment. Based on this clear demonstration of PTC124 activity, we have initiated a three-month study to further evaluate its potential for improving patient treatment."
This study will be carried out within the framework of a longer Phase 2b cystic fibrosis program conducted by Hadassah and PTC Therapeutics. Hadasit Ltd., the Hadassah Medical Organization technology transfer company and subsidiary responsible for commercializing Hadassah's intellectual property and R&D capabilities in biomedical technology, formalized the agreement between Hadassah and PTC.
Meanwhile, PTC Therapeutics announced Monday that it has begun a Phase 1 multiple-dose study to evaluate escalating dose levels of PTC299 in healthy volunteers. The substance has shown indications of working against cancer using the same core mechanism used against CF. It is believed to modulate RNA-mediated protein expression to inhibit the production of vascular endothelial growth factor (VEGF) in tumors.