Hi there
I'm new to the forum, but have been reading here for a while. I have four children, three wcf & one wo. Their ages are 27, 25, 10 & 8.
Just thought I 'de post this info, which may be helpful.
Judy Siegel-Itzkovich, THE JERUSALEM POST Nov. 14, 2006
________________________________
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 Therapeutics' 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.
