A drug has been approved for use in the US to treat a very rare, genetic disorder that can be present in some new-born babies and sees them retain too much ammonia in the blood.
The US Food and Drug Administration has approved Carbaglu (carglumic acid) tablets to treat N-acetylglutamate synthase, or Nags deficiency.
DNA testing can help detect if Nags deficiency is present, but if left untreated the resulting elevated levels of ammonia (hyperammonemia) can be fatal.
Janet Woodcock, managing director of the FDA’s Centre for Drug Evaluation and Research, said: “We are very excited that more drugs are being developed to treat very rare but often devastating genetic disorders. We hope to see continuing progress in this area.”
The safety and effectiveness of Carbaglu was studied in 23 patients with Nags who received the treatment for times ranging from six months to 21 years.
Carbaglu was found to reduce blood ammonia levels within 24 hours and it 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.
Side-effects experienced by those using Carbaglu included vomiting, abdominal pain, fever, tonsillitis, anaemia, ear infection, diarrhoea, inflammation of the nose and throat, and headache.
Copyright Press Association 2010