November 26, 2006, Updated September 13, 2012

Professor Eitan Kerem of Hadassah Medical Center with cystic fibrosis patient Tova Shapiro.A collaboration between Israeli and American researchers on a new cystic fibrosis treatment has achieved promising results among CF patients undergoing clinical trials in Jerusalem.

Under the supervision of Dr. Michael Wilschanski and Professor Eitan Kerem of Hadassah Medical Center, 24 Jewish and Arab Israeli adult CF patients recently enrolled in a new study (Phase II) to test the orally administered therapy called PTC124. The patients have expressed a reduction of CF symptoms such as less mucous in their lungs and doctors measured improved lung functioning and weight gain of patients who normally have a hard time retaining nutrients.

And that’s also good news for the 30,000 adults and children in the US who suffer from CF. According to the American Cystic Fibrosis Foundation, the disease occurs in approximately one of every 3,500 live births, with about 1,000 new cases diagnosed each year. There is presently no cure.

The new drug candidate developed by American company PTC Therapeutics, may be commercialized in as early as two years, only after the company passes a third stage of studies, which will be on a larger sample of CF patients and include the use of a placebo. In parallel, studies on children will begin by mid 2007.

The work on this drug is a classic example of how Israeli and American scientists are working together to advance the face of healthcare for the betterment of society.

“PTC approached us after hearing about our studies in the New England Journal of Medicine,” Kerem told ISRAEL21c. “They were doing research in the same area and had discovered a compound that has the same effect of what we used in our studies, without toxicity.”

Kerem’s research coupled with the unique genetic makeup among Israeli CF sufferers made Israel second-to-none for trying out the new drug candidate, which is expected to treat other genetic disorders such muscular dystrophy, hemophilia and some types of cancer.

The incidence of CF in Israel is about the same in the rest of the world, but the way it is expressed in the genetic code of its sufferers is different. For example, in Israel, about 60 percent of Israeli Arabs and Jews with CF have a genetic mutation known as a “stop mutation”. Normally in the US and other parts of the world, only about 10 percent of all CF patients have this specific genetic abnormality.

It was a “Eureka moment” for PTC when they discovered Kerem’s advanced work on CF therapies and a population of people with a high proportion of this specific genetic anomaly they needed to test their drug.

Israel, therefore, became a perfect testing ground for PTC’s drug candidate, built in the lab by a team of scientists dreaming of a cure for genetic diseases.

The drug candidate is especially attractive because it is based on a formulated liquid to be administered three times a day. This is part of the breakthrough because CF patients are usually treated intravenously.

On the Israeli side, Kerem has no financial interest in developing the drug, but looks ahead to the future. His young patients now only live on average to age 37; one day he hopes they will have a normal lifespan like everybody else.

When asked why he was part of the study, Kerem responded, “I am a doctor that treats CF patients and the therapy today is mainly about avoiding complications and preventing progression of the disease. I am always hoping to find a cure to this disease rather than just treating or preventing it.”

His colleague Wilschanski, originally from London, shared the same views, “I’d like to think this drug will help prevent lung deterioration. If started early enough, we could avoid severe lung disease. I worked on this drug, because I have a passion for looking out for a cure. And yes, this could be a breakthrough. It would be the first time an oral drug is treating a gene.”

Wilschanski and Kerem unfortunately, know all too well about the suffering of CF patients and their families. Diagnosis can be as early as before a patient’s first birthday.

“The problem is CF is relenting and it never gets better and there is no treatment; patients either get a lung transplant or die. What we have been doing is trying to figure out a cure.”

Current treatments include physical therapy to clear the thick mucus from the lungs, antibiotics to treat lung infections and a mucus-thinning drug designed to reduce the number of lung infections and improve lung function.

The recent studies on PTC124 was done in four other clinical sites as well and included the University of Alabama at Birmingham, the Johns Hopkins Hospital, Rainbow Babies’ and Children’s Hospital in Cleveland, Denver Children’s Hospital, and Stanford University Medical Center.

All of these sites are member institutions of the Cystic Fibrosis Foundation Therapeutics Development Network, supported by the Cystic Fibrosis Foundation.

Kerem, who travels to international CF meetings and consortia regularly, is hesitant to say for sure if the drug will go to market. But his partner Wilschanski can’t forget the reactions he has heard.

“One mother of an 18 year-year-old boy told Professor Kerem that for the first time she has not been woken up by her boy coughing through the night. This is a tremendous improvement,” said Wilschanski who believes their recent findings are “another stop on the way to curing this horrible disease and other genetic disorders”.

There are 500 CF patients in Israel today, among them Tova, the 13 year-old daughter of Joe Shapiro, who was one of the first to put his name on the list for the children’s trial of PTC124. Shapiro, originally from the US, is desperate to find any and all possible therapies to halt the progression of his 13 year-old daughter’s CF.

“Kerem is one of the top doctors in the world. When we were first diagnosed we thought about going back to America – but we couldn’t be happier with the help here. Kerem is constantly in touch and touching base with centers abroad,” Shapiro told ISRAEL21c.

In an attempt to relieve the suffering of CF patients, Shapiro is the founder and director of a non-profit organization Concerned Friends of Cystic Fibrosis which tries to help alleviate some of the financial and emotional burdens that CF families face.

Among his efforts include bringing CF sufferers to his small house in Arad near the Dead Sea for therapeutic sessions. According to Shapiro, the Dead Sea area offers a natural healing environment for clearing up clogged lungs. Being the lowest point on earth it has high barometric pressure, drier and highly oxygenated air. A few days in the Dead Sea can be worth months of other therapy, says Shapiro whose charity has been endorsed by Kerem as a viable complementary therapy option.

Shapiro has his fingers crossed for his daughter Tova that she will be chosen for trying PTC124 in a few month’s time, when PTC commences trials on children.

“The whole point is keeping [CF patients] healthy, because, God forbid, they will get sick which will cause a domino effect that will go to their lungs,” says Shapiro. The promise of a potential new drug, “is definitely very exciting.”

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Jason Harris

Jason Harris

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