Gaucher Patients Cope With Drug Shortage, as New Treatments Beckon

By Rebecca Dube

Published August 19, 2009, issue of August 28, 2009.
  • Print
  • Share Share

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.”


The Jewish Daily Forward welcomes reader comments in order to promote thoughtful discussion on issues of importance to the Jewish community. In the interest of maintaining a civil forum, The Jewish Daily Forwardrequires that all commenters be appropriately respectful toward our writers, other commenters and the subjects of the articles. Vigorous debate and reasoned critique are welcome; name-calling and personal invective are not. While we generally do not seek to edit or actively moderate comments, our spam filter prevents most links and certain key words from being posted and The Jewish Daily Forward reserves the right to remove comments for any reason.





Find us on Facebook!
  • Could Spider-Man be Jewish? Andrew Garfield thinks so.
  • Most tasteless video ever? A new video shows Jesus Christ dying at Auschwitz.
  • "It’s the smell that hits me first — musty, almost sweet, emanating from the green felt that cradles each piece of silver cutlery in its own place." Only one week left to submit! Tell us the story of your family's Jewish heirloom.
  • Mazel tov to Chelsea Clinton and Marc Mezvinsky!
  • If it's true, it's pretty terrifying news.
  • “My mom went to cook at the White House and all I got was this tiny piece of leftover raspberry ganache."
  • Planning on catching "Fading Gigolo" this weekend? Read our review.
  • A new initiative will spend $300 million a year towards strengthening Israel's relationship with the Diaspora. http://jd.fo/q3Iaj Is this money spent wisely?
  • Lusia Horowitz left pre-state Israel to fight fascism in Spain — and wound up being captured by the Nazis and sent to die at Auschwitz. Share her remarkable story — told in her letters.
  • Vered Guttman doesn't usually get nervous about cooking for 20 people, even for Passover. But last night was a bit different. She was cooking for the Obamas at the White House Seder.
  • A grumpy Jewish grandfather is wary of his granddaughter's celebrating Easter with the in-laws. But the Seesaw says it might just make her appreciate Judaism more. What do you think?
  • “Twist and Shout.” “Under the Boardwalk.” “Brown-Eyed Girl.” What do these great songs have in common? A forgotten Jewish songwriter. We tracked him down.
  • What can we learn from tragedies like the rampage in suburban Kansas City? For one thing, we must keep our eyes on the real threats that we as Jews face.
  • When is a legume not necessarily a legume? Philologos has the answer.
  • from-cache

Would you like to receive updates about new stories?




















We will not share your e-mail address or other personal information.

Already subscribed? Manage your subscription.