Jul 10 2007
The Food and Drug Administration (FDA) in the USA has concluded that Carbaglu (carglumic acid) for treatment of N-acetylglutamate synthase (NAGS) deficiency meets the criteria for fast track designation.
NAGS deficiency, the most severe among Urea Cycle Disorders (UCD) is a very rare genetic disease presenting with extremely high plasma levels of ammonia, which leads to permanent and irreversible damage of the central nervous system. Rapid diagnosis and prompt effective treatment are essential to prevent patients from neurological damage and life threatening condition.
Children born with this genetic disorder often die before diagnosis due to the severity and fast deterioration of clinical status. The incidence of UCD is 1 in 30'000 births, and NAGS deficiency is the rarest among the UCD.
Carbaglu is the specific treatment for NAGS deficiency. It is a synthetic analogue of NAG replacing deficient enzyme in the urea cycle. Today there are over 20 NAGS deficiency patients in Europe treated on a long-term basis with Carbaglu. After initiation of treatment plasma ammonia levels decrease rapidly to normal levels, it decreases the frequency of hyperammonaemic crises and reduces the incidence of significant long-term morbidity. When treatment is started early, patients have normal neurological development, and most of them don't need dietary restrictions.
Carbaglu does not only save patients' lives, but also assures a good quality of life for patients on a continuous treatment.
Carbaglu has been granted Orphan drug status in USA (1998) and in Europe (2000). It was granted EU marketing authorization in 2003. FDA granted Carbaglu a fast tract designation in May 2007 as it is intended to treat a serious or life-threatening condition and potentially address an unmet medical need. Carbaglu has now access to FDA Fast Track Drug Development Programs which are designed to facilitate the development and expedite the review of such very promising new drugs.
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