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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New gene therapy aims to tame PKU in first human test
Disease control OngoingThis early-phase study tests a single IV dose of NGGT002 gene therapy in 15 adults with phenylketonuria (PKU), a genetic disorder that causes harmful buildup of phenylalanine. The main goal is to check safety over one year, with long-term follow-up for five years. Researchers wil…
Early phase 1 • Sponsor: The First Affiliated Hospital of Bengbu Medical University • Aim: Disease control
Last updated Aug 08, 2026 00:03 UTC
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New shot could free teens with PKU from strict diet
Disease control OngoingThis study tests an injectable drug called pegvaliase in 55 teenagers (ages 12-17) with phenylketonuria (PKU) who have high blood Phe levels despite diet management. Half get the drug, half stick to diet only. The goal is to see if pegvaliase safely lowers Phe levels and reduces …
Phase 3 • Sponsor: BioMarin Pharmaceutical • Aim: Disease control
Last updated Jul 23, 2026 00:00 UTC
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Can a One-Day allergy fix keep PKU patients on their meds?
Disease control OngoingThis study tests a rapid drug desensitization (RDD) protocol for adults with phenylketonuria (PKU) who have had allergic reactions to Palynziq. Over one day, patients receive gradually increasing doses to retrain their immune system. The goal is to see if they can safely restart …
Phase 4 • Sponsor: BioMarin Pharmaceutical • Aim: Disease control
Last updated Jun 27, 2026 12:04 UTC
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One-Time gene therapy could free PKU patients from strict diet
Disease control OngoingThis study tests a one-time gene therapy called SAR444836 for adults with phenylketonuria (PKU), a genetic disorder that makes it hard to break down an amino acid called phenylalanine. The therapy uses a harmless virus to deliver a working copy of the missing gene. Researchers wa…
Phase 1/2 • Sponsor: Sanofi • Aim: Disease control
Last updated Jun 27, 2026 07:51 UTC
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Newborn screening study aims to catch rare diseases at birth
Diagnosis OngoingThis study offers voluntary screening for newborns in North Carolina to detect a wide range of rare health conditions early. Using a small blood sample already collected at birth, the program tests for dozens of disorders, including spinal muscular atrophy, cystic fibrosis, and m…
Sponsor: RTI International • Aim: Diagnosis
Last updated Jul 03, 2026 00:00 UTC
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Hidden weight problem: PKU adults face higher obesity risk, scientists investigate why
Knowledge-focused By invitation onlyThis observational study looks at how common overweight and obesity are in adults with phenylketonuria (PKU) and what factors might contribute. Researchers will collect clinical data, lab results, and questionnaire responses on diet, exercise, and mental health from 100 adults at…
Sponsor: Christel Tran • Aim: Knowledge-focused
Last updated Jul 16, 2026 00:00 UTC
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48-Hour test may predict who benefits from PKU drug
Knowledge-focused OngoingThis study tests whether a 48-hour BH4 loading test can predict which people with phenylketonuria (PKU) will respond to treatment. Twenty participants receive BH4 and have their blood phenylalanine levels measured over two days. The goal is to link test results with each person's…
Phase 1 • Sponsor: Sohag University • Aim: Knowledge-focused
Last updated Jun 27, 2026 08:00 UTC