Phenylketonuria
MONDO:0009861Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism and is characterized by mild to severe mental disability in untreated patients.
Also known as: PAH deficiency, PKU, hyperphenylalaninemia, non-PKU mild, phenylalanine hydroxylase deficiency, phenylketonuria, HPA, non-PKU mild, imbecilitus phenylpyruvica, oligophrenia Phenylpyruvica
60 clinical trials for this condition and its sub-types, 57 tagged with Phenylketonuria itself.
Follow this condition to get notified about new trialsWhere it sits in the disease tree
Browse by category →Sub-types of Phenylketonuria
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Classic phenylketonuria 4 trials
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Maternal phenylketonuria 3 trials
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Mild hyperphenylalaninemia 3 trials
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Mild phenylketonuria 0 trials
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One-Shot gene therapy could free PKU patients from strict diet
Disease control Not yet recruitingThis early-phase trial tests a single injection of a gene therapy called GS1168 in 9 adults with PKU whose condition is not well controlled by diet or other treatments. The therapy uses a harmless virus to deliver a working copy of the PAH gene, which is faulty in PKU, to help th…
Early phase 1 • Sponsor: Gritgen Therapeutics Co., Ltd. • Aim: Disease control
Last updated Sep 12, 2026 00:00 UTC
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Tiny tablets could make PKU management easier for patients
Disease control Not yet recruitingThis study tests a new microtablet protein substitute for people with phenylketonuria (PKU), a condition requiring a strict low-protein diet. The microtablets combine protein with vitamins and minerals, aiming to be easier to take than current liquid or powder options. About 20 a…
Sponsor: Nutricia UK Ltd • Aim: Disease control
Last updated Jun 28, 2026 00:00 UTC
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Can tiny tablets replace protein powder for kids with PKU?
Symptom relief Not yet recruitingThis trial tests whether XPhe Piccos, a slow-release protein substitute in tiny tablets without phenylalanine, is acceptable and well-tolerated in children aged 3 and older with phenylketonuria (PKU) or hyperphenylalaninemia. Participants replace some or all of their usual protei…
Sponsor: metaX Institut fuer Diatetik GmbH • Aim: Symptom relief
Last updated Sep 05, 2026 00:00 UTC
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Can mindfulness ease trauma for Justice-Involved black teens?
Knowledge-focused Not yet recruitingThis study looks at whether mindfulness-based stress reduction can help Black teenage girls who have been involved with the justice system and their parents or caregivers. About 90 participants will report on stress, PTSD symptoms, and other outcomes before and after the program.…
Sponsor: University of Michigan • Aim: Knowledge-focused
Last updated Sep 10, 2026 00:00 UTC
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PKU mystery: why do some patients thrive despite high phe levels?
Knowledge-focused Not yet recruitingThis study looks at how blood phenylalanine (Phe) levels affect thinking, emotions, and daily functioning in adults with PKU. Researchers will ask 30 adults with PKU and their relatives to complete questionnaires. The goal is to understand why some people with high Phe levels hav…
Sponsor: Central Hospital, Nancy, France • Aim: Knowledge-focused
Last updated Jun 27, 2026 09:05 UTC