The US Food and Drug Administration (FDA) has approved Carbaglu (carglumic acid) to treat an extremely rare genetic disorder that results in too much ammonia in the blood.
The condition, N-acetylglutamate synthase or NAGS deficiency, is an extremely rare genetic disorder that can be present in babies soon after birth and can be fatal if not detected and treated rapidly.
Approval for Carbaglu, which is manufactured by Orphan Europe, was based on studies in 23 patients with NAGS who received the treatment for periods ranging from six months to 21 years.
During these studies, Carbaglu was shown to reduce blood ammonia levels within 24 hours and normalised ammonia levels within three days. The majority of those in the study appeared to maintain normal plasma ammonia levels with long-term Carbaglu treatment.
The FDA will continue to monitor Carbaglu as it is used to treat hyperammonaemia.