Gaucher Patients Cope With Drug Shortage, as New Treatments Beckon

By Rebecca Dube August 19, 2009

For thousands of people with Gaucher disease, the most common genetic disorder affecting Jews, the next few months will be challenging.

Many are going without the drug used to treat their potentially life-threatening enzyme disorder, after a virus contaminated a Boston-area manufacturing plant of biotechnology company Genzyme.

Meanwhile, Gaucher patients and their doctors are watching closely as the Food and Drug Administration is fast-tracking the approval process for two new treatments that would compete with Genzyme’s drug Cerezyme, which has had the market pretty much to itself until now.

“Of course there is anxiety,” said Rhonda Buyers, executive director of the National Gaucher Foundation. Because of the contamination at the Genzyme plant, supplies are limited and only the most vulnerable patients — children under 18 years old and adults with the most aggressive forms of the disease — are receiving regular doses of the drug. Everyone else has to wait until new doses of Cerezyme are available, which, according to Genzyme, may not be until November or December.

But there’s also hope, Buyers said. Partly in response to the plant contamination and drug shortage, the FDA has approved two new Gaucher drugs for limited compassionate and experimental use, one from the British-based pharmaceutical company Shire and another from Israel-based Protalix BioTherapeutics, raising the possibility that Gaucher patients won’t have to rely solely on Cerezyme in the future.

“If you have options, it’s just better than sitting there relying on one drug,” Buyers said.

Gaucher disease is caused by a genetic mutation, inherited from both parents, that results in a specific enzyme deficiency. According to Genzyme, fewer than 10,000 people worldwide have Gaucher disease. Symptoms may include enlargement of the liver and spleen, anemia, nose bleeds, easy bruising, bone pain and weakened bones. In the general population, about one in 100 people carry the gene for Gaucher disease; among Ashkenazic Jews, the carrier rate is one in 15. People can find out whether they carry the gene through a blood or saliva test.

Genzyme’s shutdown of its Allston, Mass., plant also stopped production of Fabrazyme, a drug to treat Fabry’s disease, another inherited enzyme disorder that causes lipid build-up in the body and increases the risk of heart attacks and strokes.

Kevin Kline of New Jersey was diagnosed with Gaucher disease when he was 5 years old, and he participated in the first clinical trials for the enzyme-replacement drug that eventually became Cerezyme. For the past 20 years, until last month, he has received injections of Cerezyme every two weeks; now he’s taking what he calls an “enzyme vacation.”

Kline, 37, hasn’t had any problems yet, and he is philosophical about the shortage.

“The Gaucher community is altruistic — we’re always looking out for each other,” he said. “People like myself are more than willing and capable of forgoing medication to help people who are more affected by the disease.”

People in the Gaucher community feel frustrated with Genzyme, he said, but at the same time Kline has a lot of gratitude for the fact that Cerezyme has been a “miracle” for him, allowing him to live basically symptom-free.

“It’s a tough situation,” Kline said. “While Genzyme has shown a lot of contrition, it doesn’t change the fact that we have a shortage.”

Like many other Gaucher patients, Kline and his doctor are monitoring his health and just waiting for Cerezyme to become available again this winter.

“We are in uncharted territory,” he said. “If I wake up one day and say, ‘Oh my God, I’m feeling the effects of not having the enzyme therapy,’ I’ll cross that bridge when I come to it.”

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