Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study

Orphanet Journal of Rare Diseases
Vassili ValayannopoulosAnupam Chakrapani


Isovaleric aciduria (IVA), propionic aciduria (PA) and methylmalonic aciduria (MMA) are inherited organic acidurias (OAs) in which impaired organic acid metabolism induces hyperammonaemia arising partly from secondary deficiency of N-acetylglutamate (NAG) synthase. Rapid reduction in plasma ammonia is required to prevent neurological complications. This retrospective, multicentre, open-label, uncontrolled, phase IIIb study evaluated the efficacy and safety of carglumic acid, a synthetic structural analogue of NAG, for treating hyperammonaemia during OA decompensation. Eligible patients had confirmed OA and hyperammonaemia (plasma NH3 > 60 μmol/L) in ≥1 decompensation episode treated with carglumic acid (dose discretionary, mean (SD) first dose 96.3 (73.8) mg/kg). The primary outcome was change in plasma ammonia from baseline to endpoint (last available ammonia measurement at ≤18 hours after the last carglumic acid administration, or on Day 15) for each episode. Secondary outcomes included clinical response and safety. The efficacy population (received ≥1 dose of study drug and had post-baseline measurements) comprised 41 patients (MMA: 21, PA: 16, IVA: 4) with 48 decompensation episodes (MMA: 25, PA: 19, IVA: 4). Mean baseline ...Continue Reading


Jul 25, 1972·Proceedings of the Royal Society of London. Series B, Containing Papers of a Biological Character·M O JamesM Reidenberg
Jan 1, 1984·Journal of Inherited Metabolic Disease·R Rousson, P Guibaud
Sep 17, 1999·Archives of Neurology·W L NyhanM Mazi
Sep 2, 2003·Molecular Genetics and Metabolism·Boris GebhardtHansjosef Böhles
Jan 8, 2004·Drug Metabolism and Disposition : the Biological Fate of Chemicals·Takhar KasumovHenri Brunengraber
Jun 18, 2009·Diabetes, Obesity & Metabolism·V Walker
Jan 6, 2011·European Journal of Pediatrics·Cigdem Seher KasapkaraAlev Hasanoglu
Mar 16, 2011·International Journal of General Medicine·Marta DaniottiLuca Filippi
Sep 24, 2011·Therapeutics and Clinical Risk Management·Johannes Häberle
Oct 18, 2011·Molecular Genetics and Metabolism·Kimberly A ChapmanAnupam Chakrapani
May 31, 2012·Orphanet Journal of Rare Diseases·Johannes HäberleCarlo Dionisi-Vici
Apr 30, 2013·Handbook of Clinical Neurology·Georg F Hoffmann, Stefan Kölker

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