56 completed, 11 recruiting, 9 terminated, 2 active not recruiting. 19 Not applicable, 14 Phase 2, 13 Phase 1, 11 Phase 3, 7 Phase 4.
Follow Phenylketonuria: new trials by email Literature Review of Phenylketonuria trials Research Report on Phenylketonuria
Tick up to 5 trials to compare them side by side (eligibility, arms, endpoints, adverse events) in a Literature Matrix.
| Trial | Phase | Status | Sponsor | Enrollment | Start | Updated |
|---|---|---|---|---|---|---|
| A Trial to Examine if Repinatrabit is Processed Differently in Adults With Reduced Liver or Kidney Function Compared to Adults With Normal Liver and Kidney Function Repinatrabit - Phenylketonuria | Phase 1 | Recruiting | Otsuka Pharmaceutical Development & Commercialization, Inc. | 32 | 2026-07-17 | 2026-08-12 |
| GenSci144 Tablets Phase I Clinical Trial GenSci144 tablets, GenSci144 placebo tablets - Phenylketonuria | Phase 1 | Recruiting | Changchun GeneScience Pharmaceutical Co., Ltd. | 48 | 2026-06-22 | 2026-07-06 |
| Immune Modulation During Palynziq® Treatment in Adults (IMPALA) Pegvaliase, Methotrexate - Phenylketonuria | Phase 4 | Recruiting | BioMarin Pharmaceutical | 12 | 2026-05-29 | 2026-06-17 |
| A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AG-181 in Subjects With Phenylketonuria AG-181 - Phenylketonuria | Phase 1 | Recruiting | Agios Pharmaceuticals, Inc. | 20 | 2026-04-17 | 2026-09-28 |
| Eating Disorders in Patients With Phenylketonuria Phenylketonuria | Recruiting | Central Hospital, Nancy, France | 70 | 2025-12-04 | 2026-07-13 | |
| A Study of JNT-517 in Participants With Phenylketonuria (PKU) JNT-517, JNT-517 Matching Placebo - Phenylketonuria | Phase 3 | Recruiting | Otsuka Pharmaceutical Development & Commercialization, Inc. | 120 | 2025-10-20 | 2026-10-21 |
| Impact Of A Phe-Restricted Diet On Gut Health In Children With PKU Phenylalanine-restricted diet alone, Sapropterin Dihydrochloride, Sepiapterin - Phenylketonuria | Recruiting | Birmingham Women's and Children's NHS Foundation Trust | 148 | 2025-10-01 | 2026-10-06 | |
| Effect of Different Meal Types Given Before Exercise on Plasma Amino Acid Levels and Metabolic Control Parameters in Classical Phenylketonuria Patients Undergoing Aerobic and Resistance Exercises Aerobic Exercise, Resistance Exercise, Water - Phenylketonuria | Not applicable | Completed | Hacettepe University | 10 | 2025-10-01 | 2026-09-16 |
| GMP Powdered Substitutes in PKU and TYR GMP Intervention Product - Phenylketonuria, Tyrosinemia | Not applicable | Recruiting | Nutricia UK Ltd | 40 | 2025-05-20 | 2025-12-19 |
| Rapid Drug Desensitization Study in Adults Experiencing Hypersensitivity Reactions to Palynziq RDD to Palynziq - Phenylketonuria, PKU | Phase 4 | Completed | BioMarin Pharmaceutical | 9 | 2025-02-07 | 2026-10-01 |
| Effect of L-carnitine Supplementation on Phenylalanine and Brain-derived Neurotrophic Factor Levels in Infants and Children With Phenylketonuria L-carnitine - Phenylketonuria | Phase 4 | Active not recruiting | Mansoura University | 176 | 2025-02-01 | 2025-04-04 |
| Announcement of Rare Metabolic Diseases in Systematic Newborn Screening: the Phenylketonuria Experience. socio-psychological questionnaire, revised event impact scale (IER-S), Non directive interview - Phenylketonuria | Recruiting | Assistance Publique - Hôpitaux de Paris | 80 | 2024-05-07 | 2026-06-24 | |
| A Dose-finding Study to Evaluate mRNA-3210 in Participants With Phenylketonuria mRNA-3210 - Phenylketonuria | Phase 1 / Phase 2 | Withdrawn | ModernaTX, Inc. | 2024-03-29 | 2024-10-22 | |
| A Study of Sepiapterin in Participants With Phenylketonuria (PKU) Sepiapterin - Phenylketonuria | Phase 3 | Recruiting | PTC Therapeutics | 56 | 2024-03-04 | 2026-08-28 |
| Evaluation of Capillary Blood Collection Devices (Mitra® and HemaPEN®) DM-DIV MITRA® - Phenylketonuria, Metabolic Diseases | Unknown | University Hospital, Grenoble | 40 | 2023-12-13 | 2023-12-22 | |
| Efficacy and Safety of Orally Administered Engineered Probiotics (CBT102-A) for the Treatment of Children With Phenylketonuria CBT102-A capsule, Placebo capsule - Phenylketonuria | Early Phase 1 | Completed | Children's Hospital of Fudan University | 15 | 2023-09-02 | 2026-02-27 |
| A Phase 1/Phase 2 Open-label Study to Evaluate the Safety, Tolerability, and Efficacy of a Single Intravenous Administration of SAR444836 in Adult Participants With Phenylketonuria SAR444836 - Phenylketonuria | Phase 1 / Phase 2 | Active not recruiting | Sanofi | 32 | 2023-08-07 | 2025-09-23 |
| Efficacy and Safety of SYNB1934 in Patients With PKU (SYNPHENY-3) SYNB1934v1, Placebo - Phenylketonuria | Phase 3 | Terminated | Synlogic | 35 | 2023-07-05 | 2024-06-20 |
| First-in-Human, Multiple Part Clinical Study of JNT-517 in Healthy Participants and in Participants With Phenylketonuria JNT-517 Suspension, Placebo Suspension, JNT-517 Tablet - Phenylketonuria | Phase 1 / Phase 2 | Completed | Otsuka Pharmaceutical Development & Commercialization, Inc. | 163 | 2022-10-31 | 2026-07-16 |
| Safety and Efficacy of HMI-103 in Participants With Classical PKU Due to PAH Deficiency HMI-103 - Phenylketonurias, PAH Deficiency | Phase 1 | Terminated | Homology Medicines, Inc | 3 | 2022-06-03 | 2023-10-10 |
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Phenylketonurias (82) · Metabolism, Inborn Errors (5) · Behavior (2) · Genetic Diseases, Inborn (2) · Metabolic Diseases (2) · Motor Activity (2) · Phenylketonuria, Maternal (2) · Rare Diseases (2) · Attention Deficit Disorder with Hyperactivity (1) · Brain Diseases (1) · Central Nervous System Diseases (1) · Galactosemias (1) · Malnutrition (1) · Nervous System Diseases (1) · Psychological Trauma (1)
Amino Acid Metabolism, Inborn Errors (82) · Brain Diseases, Metabolic (82) · Brain Diseases, Metabolic, Inborn (82) · Congenital, Hereditary, and Neonatal Diseases and Abnormalities (82) · Nutritional and Metabolic Diseases (82) · Brain Diseases (81) · Central Nervous System Diseases (81) · Nervous System Diseases (81) · Genetic Diseases, Inborn (80) · Metabolic Diseases (80) · Metabolism, Inborn Errors (77) · Behavior (2) · Disease Attributes (2) · Female Urogenital Diseases and Pregnancy Complications (2) · Mental Disorders (2)
sapropterin (23) · pegvaliase (7) · phenoptin (3) · sepiapterin (3) · Phenylalanine (2) · Blood Specimen Collection (1) · Carbohydrates (1) · Carnitine (1) · Diet (1) · Docosahexaenoic Acids (1) · Exercise (1) · Immunosuppression Therapy (1) · Methotrexate (1) · Moxifloxacin (1) · Proteins (1)
BioMarin Pharmaceutical (18) · Emory University (4) · Boston Children's Hospital (3) · Otsuka Pharmaceutical Development & Commercialization, Inc. (3) · PTC Therapeutics (3) · Synlogic (3) · Homology Medicines, Inc (2) · Ludwig-Maximilians - University of Munich (2) · Merck KGaA, Darmstadt, Germany (2) · Nutricia UK Ltd (2) · University of British Columbia (2) · University of Miami (2) · Vitaflo International, Ltd (2) · Washington University School of Medicine (2) · Agios Pharmaceuticals, Inc. (1)
United States (51) · United Kingdom (11) · Canada (10) · Germany (9) · France (8) · Australia (6) · Italy (6) · Spain (6) · Turkey (Türkiye) (6) · Denmark (4) · Netherlands (4) · Poland (4) · Brazil (3) · Czechia (3) · Georgia (3)
Anita MacDonald (2) · Ari Gershman, MD (2) · Berthold Koletzko, Prof. (2) · Debra Lounsbury (2) · Desiree White, Ph.D. (2) · Dorothy K. Grange, M.D. (2) · Rajavel Elango, PhD (2) · Susan E Waisbren, PhD (2) · Anita MacDonald, PhD (1) · Annette Feigenbaum, MD (1) · Bobbye M. Rouse (1) · Bobbye M. Rouse, M.D. (1) · Can Ficicioglu, MD, PhD (1)
PMID 32593547, PMID 28465125, PMID 21646032, PMID 22000478, PMID 23006929, PMID 23608077, PMID 23928118, PMID 24043380, PMID 24743000, PMID 27014575, PMID 27413125, PMID 28053173, PMID 28274234, PMID 28400091, PMID 28546877, PMID 28664173, PMID 29464117, PMID 29490096, PMID 29973227, PMID 30023287, PMID 30544518, PMID 32054509, PMID 34294862, PMID 34294923, PMID 34344399, PMID 34826353, PMID 37263523, PMID 37770764, PMID 37927482, PMID 38569786, PMID 39146838, PMID 39368841, PMID 40378670, PMID 40411344, PMID 41363942, PMID 41537382
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