Inborn disorder of amino acid metabolism
MONDO:0004736An inherited disorder that affects the metabolism of the amino acids. Representative examples include alkaptonuria, homocystinuria, tyrosinemia, and phenylketonuria.
Also known as: inborn cellular amino acid metabolic process disorder, inborn error of amino acid metabolism, inborn error of cellular amino acid metabolic process, inherited amino acid metabolic disorder, rare inborn error of cellular amino acid metabolic process, amino acid metabolic disorder, amino acid metabolism, inborn errors, inborn amino acid metabolism disorder
161 clinical trials for this condition and its sub-types.
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Broader categories
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Promising seizure drug study halted early
Disease control TerminatedThis study looked at the long-term safety of the drug NBI-921352 for people with a rare genetic seizure disorder called SCN8A-DEE. It was an extension of an earlier study, and participants took the drug alongside their usual seizure medications. The study was stopped early and on…
Phase: PHASE2 • Sponsor: Neurocrine Biosciences • Aim: Disease control
Last updated Jun 27, 2026 12:37 UTC
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MRNA therapy trial for rare acidemia halted early
Disease control TerminatedThis study tested an mRNA therapy called mRNA-3705 in 18 people with a rare genetic condition called methylmalonic acidemia, which causes harmful acid buildup. The therapy aimed to help the body produce a missing enzyme to lower acid levels. The trial was terminated early, so fin…
Phase: PHASE1, PHASE2 • Sponsor: ModernaTX, Inc. • Aim: Disease control
Last updated Jun 27, 2026 12:28 UTC
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New PKU formula shows promise in managing blood levels
Disease control TerminatedThis study tested a new amino acid formula called PKU GOLIKE in people aged 16 and older with phenylketonuria (PKU). The goal was to see if it could better control daily swings in blood phenylalanine levels compared to standard treatment. The study was stopped early, so results a…
Phase: NA • Sponsor: APR Applied Pharma Research s.a. • Aim: Disease control
Last updated Jun 27, 2026 11:00 UTC
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Promising epilepsy drug trial halted early – what we know
Disease control TerminatedThis study tested an experimental drug called NBI-921352 in people aged 2 to 21 with a rare, severe form of epilepsy caused by a change in the SCN8A gene. The goal was to see if adding this drug to their current seizure medicines could reduce how often they had seizures. The tria…
Phase: PHASE2 • Sponsor: Neurocrine Biosciences • Aim: Disease control
Last updated Jun 27, 2026 07:54 UTC
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Experimental therapy for rare metabolic disease shows early promise
Disease control TerminatedThis study tested a new medicine called ARCT-810 in 8 people aged 12 to 65 with ornithine transcarbamylase (OTC) deficiency, a rare genetic disorder that causes dangerous ammonia buildup. The main goal was to check the drug's safety and how the body processes it. The trial was st…
Phase: PHASE2 • Sponsor: Arcturus Therapeutics, Inc. • Aim: Disease control
Last updated Jun 27, 2026 07:51 UTC
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PKU diet in childhood may shape adult IQ, study finds
Knowledge-focused TerminatedThis study looks at adults with phenylketonuria (PKU) who were diagnosed as newborns and treated with a special diet. Researchers want to see if how long and how strictly they followed the diet as children affects their intelligence (IQ) as adults. The goal is to use this informa…
Sponsor: University Hospital, Lille • Aim: Knowledge-focused
Last updated Jun 27, 2026 12:37 UTC