New Oral Treatment for Gaucher Disease
Melanie Brill has undergone intravenous infusions for Gaucher disease for over a decade, but in the last three months things have changed. Brill now takes the first FDA-approved oral treatment, Cerdelga, manufactured by Genzyme.
Gaucher is the most common Jewish genetic disease. An estimated 1 in 450 Ashkenazic Jews have it, and 1 in 10 are carriers. Patients lack the enzyme for lipid breakdown. Without it, engorged cells cluster in the spleen, liver and bone marrow, causing organ enlargement, anemia, excessive bleeding and bone disease. Cerdelga inhibits lipid clusters.
Before Cerdelga’s approval last August, the standard treatment was enzyme replacement administered by medical professionals. Most patients need one to two hours of intravenous infusions every two weeks, says Brill’s physician, Dr. Neal J. Weinreb, a hematologist in Coral Springs, Florida.
“When I found out they were coming out with a pill form, I said, ‘sign me up,’” Brill recalls. “I wouldn’t ever want to go back to taking infusions…. I have a young son, I’m an attorney and I have things to do.”