The condition, N-acetylglutamate synthase or NAGS deficiency, is an extremely rare, genetic disorder that can be present in babies soon after birth. NAGS deficiency and the resulting elevated levels of ammonia (hyperammonemia) can be fatal if it is not detected and treated rapidly. DNA testing can confirm the diagnosis of NAGS.
“We are very excited that more drugs are being developed to treat very rare but often devastating genetic disorders” said Janet Woodcock, M.D., director of FDA’s Center for Drug Evaluation and Research. “We hope to see continuing progress in this area.”
The safety and efficacy of Carbaglu was studied in 23 patients with NAGS who received the treatment for times ranging from six months to 21 years. In these patients, Carbaglu reduced blood ammonia levels within 24 hours and normalized ammonia levels within three days. The majority of those in the study appeared to maintain normal plasma ammonia levels with long-term Carbaglu treatment.
Side effects experienced by those using Carbaglu included vomiting, abdominal pain, fever, tonsillitis, anemia, ear infection, diarrhea, inflammation of the nose and throat, and headache. As with all FDA-approved products, the agency will continue to monitor Carbaglu as it is used to treat hyperammonemia.
Carbaglu should only be administered by a physician experienced in treating metabolic disorders. The recommended initial dose of Carbaglu is 100 to 250 mg/kg/day for treatment of acute hyperammonemia. Use of other ammonia-lowering therapies with Carbaglu during episodes of acute hyperammonemia is recommended. Dosing should be adjusted based on a patient’s ammonia levels and symptoms.
Consumers and health care professionals are encouraged to report adverse events to the FDA’s MedWatch program at 800-FDA-1088 or online at www.fda.gov/MedWatch/HowToReport/default.htm.
Carbaglu is manufactured by Orphan Europe.
For more information:
Rare Diseases Clinical Research Network
National Urea Cycle Disorders Foundation
Office of Rare Diseases, National Institutes of Health
Media Inquiries: Shelley Burgess, 301-796-4651; firstname.lastname@example.org
Consumer Inquiries: 888-INFO-FDA