New oral drug aids patients battling Gaucher disease

By Danielle Raykhinshteyn, For The Daily
Published October 11, 2012

For patients with Gaucher disease, a new drug could mean a whole new way of life.

University researchers recently completed a third drug trial phase for eliglustat tartrate, a new oral compound developed to treat the malady that affects about 10,000 people worldwide, thus, treatment normally administered via IV will be available as an oral compound.

People who have Gaucher disease lack an enzyme which breaks down substances stored in the liver, spleen and other places in the body. The deficiency causes the substances to build up and can cause enlargement of the spleen and liver, bone disease, anemia and low platelet counts in the blood. The disease is especially prevalent in people of Ashkenazi, or Eastern European, Jewish heritage.

The inspiration for eliglustat tartrate originated in 1972 with Medical School Prof. Norm Radin, who collaborated with Pharmacology Prof. Jim Shayman to develop the drug and license it to Genzyme — a developmental therapy subsidiary of the Sanofi Company, a pharmaceutical research group — for clinical development.

“(It) is actually a very long process (to develop a drug),” Shayman said. “This project actually started well before I was doing science.”

While some Gaucher disease patients experience organ swelling of up to 60 times their normal size, severe anemia and crippling due to lack of bone density, others have minimal symptoms.

Shayman said tests of the drug on 40 newly diagnosed patients around the world showed only mild side effects involving gastrointestinal distress when tested in increased concentration. The drug will now undergo further testing, this time in a study with 160 patients.

“It’s a pretty large trial for a rare disease,” Shayman said.

Shayman said he chose to invest his time in the rare disease due to the larger implications his research may have to other illnesses.

“Therapies developed for rare diseases become applicable to more common diseases,” Shayman said. “The most humorous example is Botox. Botox was developed for a rare neurologic problem and now, obviously, has widespread use for other purposes.”

Cynthia Frank, who suffers from Gaucher disease and advocates for research, underwent the Phase 3 trials and said she experienced positive results.

“Every cell in my body feels different. Everything,” she said.

“I have a lot less bone pain on this drug,” Frank continued. “I just feel like I’ve changed on a cellular level. I feel like it’s changed me from the inside going out, whereas on the other drug, I felt like it put a band-aid on it.”

For Frank, taking the drug as an oral compound rather than having IV infusions every two weeks has been a substantial change, and has allowed her to do things like go on a recent vacation.

“(Gaucher) controls where I live and what I do. You can’t go away from home for too long when you’re tied to a needle,” Frank said. “It’s changed my quality of life in that sense.”

Frank said her hope for the disease is for it to receive greater awareness, noting that Gaucher is now more common than Tay-Sachs disease — an illness also commonly found in people of Jewish descent that impacts the nervous system and was the subject of a widespread education campaign during the 1960s and 1970s.

“I would love to just see more knowledge about the disease in both the medical industry and the regular community,” she said. “And with more knowledge and more education, more people going into med school are going to know about this disease and hopefully choose to do research with it.”