Gaucher Drug Temporarily Rationed

Bruce Lloyd Kates is worried. Production of a drug he uses to control symptoms of his Gaucher disease, a rare genetic condition that disproportionately affects Ashkenazim, was halted mid-June after a viral contamination was discovered at the drug’s manufacturer’s plant. The 66-year-old composer from Los Feliz had hoped to find a producer to take his Depression-era musical, “Music Out of Nowhere,” to a wider audience, but now he fears he will be struggling against the disease during negotiations.

“I want to be able to plan the next few months, but I don’t know what kind of shape I’m going to be in,” Kates said.

His health depends on Cerezyme, an enzyme treatment used to suppress impaired lung and kidney function, bone pain and anemia, among other Gaucher (pronounced go-shay) symptoms. But even if the Boston Genzyme plant that manufacturers Cerezyme can resume operations in late July, the company acknowledges that rationing will be necessary when existing supplies of the synthetic enzyme dwindle in August as is expected.

Without his medication, Kates said the first signs of the disease’s return would be anemia and exhaustion — symptoms that haven’t been a concern for him in years.

As Genzyme continues clean-up of the virus — which does not affect humans, but can impact drug production — the supplier is working with a national foundation, doctors and the government to ease the effects of rationing during the shortage. Diagnosed adult patients with few or no symptoms will likely be asked to skip one or more monthly treatments, while children and adult patients who have acute forms or advanced stages of the disease will be given priority.

Cerezyme is used to treat about 8,000 Gaucher patients globally at an annual cost of $200,000 per person. It dissolves fatty cells that accumulate in the bone marrow, spleen, liver, kidneys, lungs and brain of Gaucher patients.

Oved Amitay, Genzyme’s general manager in its Cerezyme division, said the company plans to resume production of the drug in the third week of July. But the soonest new Cerezyme batches will be available is September, possibly October.

Until production can once again meet demand, the company has partnered with the National Gaucher Foundation (NGF) to develop recommended dosing guidelines, which describe how Cerezyme should be rationed to patients worldwide.

“There is nothing else we can do, but refer patients to a physician and try to keep as much information on our Web site,” NGF Executive Director Rhonda Buyers said.

Genzyme said its approach will be to protect the most vulnerable. This would include patients with the more acute type 2 or type 3 Gaucher as well as those patients who are under the age of 18, pregnant or newly diagnosed.

Carrie Ostrea, a Texas mother of a 10-month-old daughter with Gaucher, was relieved when NGF released the guidelines.

“We have a contact at Genzyme who called or e-mailed us every day and called us as soon as she got the word” that her daughter would receive infusions, Ostrea said. “They know we are freaking out.”

Dr. Barry Rosenbloom, a Gaucher expert with Tower Hematology and Oncology in Beverly Hills, plans to give healthier patients infusions every four weeks during the shortage, rather than every two weeks. He says they can miss up to two or three enzyme infusions.

“There is no reason to believe that any person with the disease will deteriorate to any significant degree during that time frame,” Rosenbloom told The Journal via e-mail.

In addition to the rationing plan, Genzyme said it has also developed a test to prevent another viral contamination from occurring at its plant in the future. And Amitay said the company is in the final stages of developing a capsule form of the drug, which could be taken two to three times daily in place of infusions.

On Monday, Israel-based Protalix Biotherapeutics announced the U.S. Food and Drug Administration was inquiring about its experimental Gaucher treatment, which has not yet been approved in the United States, to help augment options during the shortage.

Despite assurances, Kates is still worried.

He was diagnosed with Gaucher 10 years ago, after his sister — a concert violinist — had the use of her fingers affected by the disease. Since then he’s lived with regular infusions of Cerezyme, and he can’t imagine life without it. He doesn’t fall under any of the NGF’s descriptions of a vulnerable patient, and he expects there will be an eventual reduction in his dose.  He’s not sure what the effects will be. 

“I have a musical I am trying to get produced, and I have to be an active participant in that,” Kates said. “Envisioning myself without my treatment is unthinkable, because I really can’t make it through a day if I don’t have my infusion every other week.”

For more information, visit the National Gaucher Foundation at www.gaucherdisease.org.