New Drug Targeted for Gaucher Disease

Oral medication might allow sufferers to switch from IV treatments

SATURDAY, Dec. 1, 2001 (HealthDayNews) -- Research under way on a new drug may make treating the rare but potentially dangerous illness known as Gaucher disease as easy as swallowing a pill.

The disease is seen most often among Jewish people of Eastern European, or Ashkenazi, ancestry. It's caused by an inherited enzyme deficiency that prevents the body from breaking down a lipid -- or fat molecule -- called glucocerebroside.

Gaucher (pronounced go-SHAY) disease affects approximately 8,500 people in the United States. Other similar lipid storage diseases include Tay-Sachs, Fabry's and Neimann-Pick diseases.

Without treatment, Gaucher disease can result in an enlarged liver and/or spleen, blood-related disorders and severe bone disease.

Currently, the only approved treatment is enzyme replacement therapy (ERT), in which patients receive an intravenous infusion of the deficient enzyme for one to two hours, twice a month.

Although the treatment works well for most patients, doctors say a new oral medication called OGT-918 (its commercial name is Vevesca) could make treatment easier and less costly.

"This is a possible improvement, mainly in the sense that it's an oral medication as opposed to the IV," says Dr. Gregory M. Pastores, co-director of the Neurogenetics Unit at New York University School of Medicine.

Instead of replacing the enzyme that is needed to break down the lipid, as the IV treatment does, the new drug works by inhibiting the production of the lipid.

Pastores, who is leading a trial study of the drug this fall at his school, says the research will examine the use of the drug as a supplement to, or perhaps replacement for, the enzyme therapy.

"One scenario is that it could allow people to take drug holidays from the IV therapy and could use the drug as a bridging agent," he says.

The drug has already been studied in Europe and Israel on 80 patients, both in combination with ERT and on its own. That research turned up some cases of side effects, including diarrhea, and three cases of neuropathy consisting of tremors. But Pastores says the link between the tremors and the drug is questionable.

"The researchers noticed those symptoms in the course of the trial, but there were problems in the screening, and they [the researchers] weren't certain if the symptoms existed beforehand," he says.

Dr. Robin Ely Berman, president and medical director of the National Gaucher Foundation, says that, if the concerns about side effects can be put to rest, the drug could be a boon to people with the disease.

"With the only current option being the IV, which is very expensive, an oral preparation would be a huge plus for this population," Berman says.

In addition to enlargement of the liver or spleen, symptoms of Gaucher disease include reduced platelets, which can result in easy bruising and long clotting times; bone pain, and osteoporosis. The weakening of the bones can then lead to spontaneous fractures.

Oxford GlycoSciences, the developer of Vevesca, plans to submit existing data on the drug to the U.S. Food and Drug Administration for marketing approval before the end of the year.

What to Do: Visit the National Gaucher Foundation for more details on the disease. Or try the National Organization for Rare Disorders for more information and Gaucher disease links.

SOURCES: Interviews with Gregory M. Pastores, M.D., co-director, Neurogenetics Unit, New York University School of Medicine, New York City; Robin Ely Berman, M.D., president, CEO and medical director, National Gaucher Foundation, Rockville, Md.
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