A new treatment for a rare genetic disorder called Gaucher disease is expected to be available in a few months. The treatments that currently exist are in short supply, and their manufacture is cumbersome.
Gaucher disease, named for the 19th-century French doctor Philippe Gaucher, is one of a group of inherited conditions called lysosomal storage disorders. Though rare, it is among the most common such disorders. In lysosomal storage disorders, a part of the cell called the lysosome, responsible for processing what would otherwise be metabolic waste material into cell nutrients, malfunctions. Typically, the malfunction is caused by the enzymes the lysosome needs being absent.
In Gaucher disease, the deficient enzyme is one called glucosylceramidase, which uses a particular fatty acid to give the body energy. When this enzyme is missing, the fatty acid builds up in white blood cells. Common symptoms include bruising, anemia, fatigue and enlarged liver. Patients also often have skin discoloration and liver problems. Gaucher disease affects about one in 20,000 people, but is up to 45 times as prevalent in certain ethnic groups.
The disease is treatable, however, the supply of the most common medications has been disrupted since 2009. A new process undergoing FDA review to synthesize the pharmaceuticals more efficiently will help ensure that patients have a steady supply of necessary treatment.