A Tough Year for Gaucher Sufferers

Genetics

By Laurie Stern

Published August 11, 2010, issue of August 20, 2010.
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It has been a year filled with anxiety, fear and disappointment for sufferers from Gaucher disease, who are continuing to deal with the fallout from last year’s shutdown of a pharmaceutical plant.

In June 2009, Genzyme, the manufacturer of Cerezyme, then the only approved treatment for type 1 Gaucher disease, was forced to shut down the Allston, Mass., manufacturing plant where the drug was produced after a virus contaminated the facility.

A year later there are still acute shortages of Cerezyme. Although another pharmaceutical company’s alternative drug was rushed to market, there are waitlists for that therapy.

“It’s definitely been the hardest year,” said Stuart Berman, a Gaucher patient and co-chairman of New York University Langone Medical Center’s Gaucher support group. “Most patients were very scared and very worried.”

In Gaucher disease, lipids accumulate in the organs due to the absence of an enzyme that breaks down the fatty substances. If not treated, symptoms of Gaucher disease include anemia, fatigue, bone pain and swelling of the liver or spleen.

Patients who relied on Cerezyme for their bi-monthly enzyme-replacement therapy rapidly had to choose an alternative course of action in order to maintain their health.

“It was quite unsettling,” said Dr. Gregory Pastores, a National Gaucher Foundation board member and associate professor at New York University Medical Center. “There was a lot of residual loyalty to Genzyme because they were the only company in the beginning. People were a little bit surprised that this could happen.”

Fortunately for Gaucher sufferers, Shire pharmaceutical was in phase three of Food and Drug Administration testing on its own enzyme-replacement therapy called VPRIV (velaglucerase alfa). VPRIV was put on accelerated application and released 18 months ahead of its target date, said Shire spokeswoman Jessica Cotrone.

“We were lucky that we had batches left over from the clinical trial,” Cotrone said. “We put some things on hold and made sure VPRIV was front and center at our manufacturing facilities. We felt very fortunate we were able to do that and provide something to patients in their time of need.”

Gaucher disease is an autosomal recessive disease and is estimated to occur in one in 20,000 live births, with a carrier rate of 1 in 10 among the Ashkenazi Jewish population, according to the National Gaucher Foundation.

Though most patients were able to get by after the Genzyme contamination by using their own stored vials of Cerezyme or switching to VPRIV, today the Gaucher community still remains uncertain regarding treatment consistency.

While doses of Cerezyme will be increasing in the coming months, they will not be at prime availability until the fourth quarter of the year, said Genzyme spokeswoman Lori Gorski. And because Shire was asked by the FDA to unexpectedly dispense its supply of VPRIV after the Genzyme contamination, Shire now has a waitlist of new patients wondering when the drug will become available to them, as it takes approximately six months to create a single batch of the treatment.

As patients have abandoned Cerezyme in the wake of Genzyme’s contamination crisis, many have switched over to VPRIV, which boasts a shorter infusion time. But oral treatment options are also available. A new therapy from Israeli drug company Protalix Biotherapeutics is currently in clinical trials and is expected to be marketed in the United States by Pfizer.


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