111 completed, 30 recruiting, 18 terminated, 9 unknown. 54 Not applicable, 27 Phase 2, 24 Phase 1, 19 Phase 3, 9 Phase 4.
Follow Phenylketonurias: new trials by email Literature Review of Phenylketonurias trials Research Report on Phenylketonurias
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 |
|---|---|---|---|---|---|---|
| To Evaluate the Safety and Efficacy of GS1168 Injection in Adult Phenylketonuria GS1168 injection - Phenylketonuria (PKU) | Early Phase 1 | Not yet recruiting | Gritgen Therapeutics Co., Ltd. | 9 | 2027-12-31 | 2026-09-10 |
| Market Research of a Slow Release Protein Substitute for the Dietary Management of PKU Slow release, phenylalanine-free protein substitute tablets - Phenylketonuria (PKU) and Hyperphenylalaninemia, Brain Diseases, Metabolic, Inborn | Not applicable | Not yet recruiting | metaX Institut fuer Diatetik GmbH | 10 | 2026-10-15 | 2026-10-15 |
| PKU Microtablets Case Studies PKU Microtablet protein substitute - Phenylketonuria (PKU) | Not applicable | Not yet recruiting | Nutricia UK Ltd | 20 | 2026-10-01 | 2026-09-23 |
| The Impact of Frequency of Home Phenylalanine Measurements on Metabolic Control in a Population of Patients With Classic Phenylketonuria DBS Phe monitoring once weekly, DBS Phe monitoring once monthly - Phenylketonuria (PKU) | Not applicable | Recruiting | Michał Kania | 36 | 2026-09-11 | 2026-09-17 |
| PheCheck™ Validation Study PheCheck, Dried Blood Spot Cards. - Phenylketonuria (PKU) and Hyperphenylalaninemia | Recruiting | Aptatek BioSciences, Inc | 60 | 2026-08-20 | 2026-08-25 | |
| 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 |
| A Study of MZE782 in Adults With PKU MZE782, Placebo - Phenylketonuria (PKU) | Phase 2 | Recruiting | Maze Therapeutics | 38 | 2026-06-23 | 2026-10-08 |
| 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 |
| A Trial to Examine the Interaction of Repinatrabit With Ethinyl Estradiol/Norethindrone, Metformin,Carbamazepine, Rosuvastatin, and Methotrexate When Administered Together Repinatrabit, EE/NE, Metformin - Healthy Volunteers | Phase 1 | Recruiting | Otsuka Pharmaceutical Development & Commercialization, Inc. | 48 | 2026-03-31 | 2026-08-12 |
| Multiomics Approach in Adult Patients With Phenylketonuria Phenylketonuria (PKU) | Recruiting | University Hospital, Tours | 149 | 2026-03-23 | 2026-05-06 | |
| Prevalence and Determinants of Obesity in PKU Patients Phenylketonuria (PKU) | Enrolling by invitation | Christel Tran | 100 | 2026-03-01 | 2026-07-14 | |
| The Psychosocial Functioning of Adults With Phenylketonuria. Phenylketonuria (PKU) | Not yet recruiting | Central Hospital, Nancy, France | 30 | 2026-01-15 | 2026-02-12 | |
| 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 |
| Evaluation of BH4 Responsiveness in Our PKU Patients Sapropterin Dihydrochloride (BH4, tetrahydrobiopterin) - Phenylketonuria (PKU) | Phase 1 | Active not recruiting | Sohag University | 20 | 2025-09-01 | 2025-12-01 |
| A Long-Term Study of JNT-517 in Participants With Phenylketonuria JNT-517 - Phenylketonuria (PKU) | Phase 3 | Recruiting | Otsuka Pharmaceutical Development & Commercialization, Inc. | 240 | 2025-08-11 | 2026-05-01 |
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Metabolism, Inborn Errors (10) · Metabolic Diseases (7) · Genetic Diseases, Inborn (4) · Phenylketonuria, Maternal (4) · Tyrosinemias (4) · Amino Acid Metabolism, Inborn Errors (3) · Brain Diseases (3) · Galactosemias (3) · Glutaric Acidemia I (3) · Homocystinuria (3) · Maple Syrup Urine Disease (3) · Motor Activity (3) · Ornithine Carbamoyltransferase Deficiency Disease (3) · Rare Diseases (3)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (189) · Brain Diseases, Metabolic (187) · Brain Diseases, Metabolic, Inborn (187) · Central Nervous System Diseases (187) · Nervous System Diseases (187) · Nutritional and Metabolic Diseases (187) · Amino Acid Metabolism, Inborn Errors (186) · Brain Diseases (186) · Genetic Diseases, Inborn (185) · Metabolic Diseases (182) · Metabolism, Inborn Errors (179) · Pathological Conditions, Signs and Symptoms (9) · Disease Attributes (7) · Pathologic Processes (7) · Female Urogenital Diseases and Pregnancy Complications (6)
sapropterin (36) · pegvaliase (16) · phenoptin (4) · sepiapterin (4) · Blood Specimen Collection (3) · Diet (3) · Methotrexate (2) · Phenylalanine (2) · caseinomacropeptide (2) · Ankle Brachial Index (1) · Ascorbic Acid (1) · Carbamazepine (1) · Carbohydrates (1) · Carnitine (1) · Caseins (1)
BioMarin Pharmaceutical (36) · Vitaflo International, Ltd (11) · Emory University (6) · Nutricia UK Ltd (6) · Otsuka Pharmaceutical Development & Commercialization, Inc. (6) · Boston Children's Hospital (5) · Homology Medicines, Inc (4) · PTC Therapeutics (4) · University Hospital, Tours (4) · University of British Columbia (4) · University of Missouri-Columbia (4) · APR Applied Pharma Research s.a. (3) · Nutricia Research (3) · Synlogic (3) · Birmingham Women's and Children's NHS Foundation Trust (2)
United States (93) · United Kingdom (34) · Germany (18) · France (15) · Canada (14) · Italy (14) · Australia (9) · Turkey (Türkiye) (8) · China (7) · Spain (7) · Switzerland (7) · Denmark (6) · Netherlands (6) · Poland (5) · Belgium (4)
Anita MacDonald (6) · Rajavel Elango, PhD (3) · Anita MacDonald, Professor (2) · Ari Gershman, MD (2) · Berthold Koletzko, Prof. (2) · Debra Lounsbury (2) · Desiree White, Ph.D. (2) · Don Nwose, MD (2) · Dorothy K. Grange, M.D. (2) · Ece Kucuksayrac, MD (2) · Gary Hubbard, Dr (2) · Heather W Saavedra, MS (2)
PMID 32593547, PMID 40411344, PMID 28465125, PMID 34826353, PMID 41989430, PMID 12141594, PMID 14640675, PMID 15026283, PMID 15110326, PMID 17693179, PMID 18566668, PMID 19261295, PMID 21646032, PMID 21813309, PMID 22000478, PMID 23006929, PMID 23608077, PMID 23928118, PMID 24043380, PMID 24743000, PMID 26797689, PMID 27014575, PMID 27413125, PMID 27513937, PMID 28053173, PMID 28274234, PMID 28318688, PMID 28400091, PMID 28546877, PMID 28664173, PMID 29464117, PMID 29490096, PMID 29973227, PMID 30023287, PMID 30544518, PMID 30864096, PMID 31315600, PMID 32054509, PMID 32461102, PMID 34294862, PMID 34294923, PMID 34344399, PMID 35142618, PMID 37263523, PMID 37770764, PMID 37927482, PMID 38569786, PMID 39146838, PMID 39179054, PMID 39368841
2009 (2), 2023 (2), 2025 (2), 2018 (1), U01AA016668 (1)