FDA Approves First Treatment for Acid Sphingomyelinase Deficiency, a Rare Genetic Disease Today, the U.S. Food and Drug Administration approved Xenpozyme (Olipudase alfa) for intravenous infusion in pediatric and adult patients with Acid Sphingomyelinase Deficiency (ASMD), a rare genetic disease that causes premature death. Xenpozyme is the first approved medication to treat symptoms that are not related to the central nervous system in patients with ASMD. ASMD is caused by the lack of an enzyme needed to break down a complex lipid, called sphingomyelin, that accumulates in the liver, spleen, lung, and brain. Patients with ASMD have enlarged abdomens that can cause pain, vomiting, feeding difficulties, and falls. They also have abnormal liver and blood tests. The most severely affected patients have profound neurologic symptoms and rarely survive beyond two to three years of age. Other patients may survive into adulthood but die prematurely from respiratory failure. The most common side effects of Xenpozyme include headache, cough, fever, joint pain, diarrhea, and low blood pressure. Xenpozyme carries a boxed warning for severe hypersensitivity reactions including anaphylaxis. Some patients treated with Xenpozyme developed laboratory test abnormalities, such as abnormal liver blood tests. Routine blood laboratory testing should be obtained periodically. Xenpozyme should not be started during pregnancy due to the potential for fetal harm, which was observed during animal studies. Additionally, in the clinical trials, 75% of pediatric patients and 50% of adult patients experienced reactions including headaches, nausea and vomiting while receiving Xenpozyme through intravenous infusion. More than 7,000 rare diseases affect more than 30 million people in the United States. Many rare conditions are life threatening and most do not have treatments. The FDA estimates that half of these serious or life-threatening diseases affect children. |
No comments:
Post a Comment