302 completed, 76 recruiting, 41 terminated, 40 unknown. 126 Not applicable, 91 Phase 2, 77 Phase 1, 49 Phase 3, 25 Phase 4.
Follow Amino Acid Metabolism, Inborn Errors: new trials by email Literature Review of Amino Acid Metabolism, Inborn Errors trials Research Report on Amino Acid Metabolism, Inborn Errors
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 |
| Outside the Cage (OTC) Robotic Esophagectomy OTC MIE Esophagectomy - Esophageal Cancer | Phase 1 | Not yet recruiting | Centre hospitalier de l'Université de Montréal (CHUM) | 31 | 2027-01-01 | 2026-03-18 |
| 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 |
| Natural History of MADD Multiple Acyl-CoA Dehydrogenase Deficiency | Recruiting | Icahn School of Medicine at Mount Sinai | 50 | 2026-10-01 | 2026-09-16 | |
| 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 |
| Phase 1/2 Study of KRRO-121 in Healthy Volunteers and Patients With UCD KRRO-121, Placebo - Urea Cycle Disorders, Inborn, Urea Cycle Disorders | Phase 1 / Phase 2 | Recruiting | Korro Bio, Inc. | 30 | 2026-09-28 | 2026-10-08 |
| 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 | |
| Study of LNP.UCD.ABE in Patients With Urea Cycle Disorders LNP.UCD.ABE - Urea Cycle Disorders, Carbamoyl-Phosphate Synthase I Deficiency | Phase 1 / Phase 2 | Recruiting | Rebecca Ahrens-Nicklas | 7 | 2026-08-07 | 2026-08-26 |
| Functional Evaluation in Patients With Urea Cycle Disorders (UCD) During a Driving Task Urea Cycle Disorder | Recruiting | St. Jude Children's Research Hospital | 60 | 2026-07-20 | 2026-07-31 | |
| AAVrh10-PCCA Gene Therapy for Propionic Acidemia AAVrh10-PCCA low dose, AAVrh10-PCCA middle dose, AAVrh10-PCCA high dose - Propionic Acidemia | Phase 1 | Recruiting | Mayo Clinic | 9 | 2026-07-20 | 2026-08-21 |
| 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 |
| Evaluation of the Safety of Loargys Arginine Test System in Loargys-treated Patients Loargys Arginine Test System - ARG1 Deficiency | Not applicable | Recruiting | Immedica Pharma US Inc | 100 | 2026-04-17 | 2026-05-07 |
| 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 | |
| An Evaluation of Nutritional Status, Body Composition, and Dietary Intakes of Filipino Pediatric Patients With Inborn Errors of Intermediary Protein Metabolism Metabolism, Inborn Errors, Amino Acid Metabolism, Inborn Errors | Recruiting | Food and Nutrition Research Institute, Philippines | 176 | 2026-03-10 | 2026-10-01 |
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Phenylketonurias (188) · Urea Cycle Disorders, Inborn (65) · Multiple Acyl Coenzyme A Dehydrogenase Deficiency (60) · Ornithine Carbamoyltransferase Deficiency Disease (59) · HIV Infections (40) · Cytomegalovirus Infections (39) · Acquired Immunodeficiency Syndrome (36) · Metabolism, Inborn Errors (35) · Hyperhomocysteinemia (33) · Cytomegalovirus Retinitis (30) · Retinitis (25) · Propionic Acidemia (23) · Metabolic Diseases (22) · AIDS-Related Opportunistic Infections (20) · Homocystinuria (20)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (507) · Nutritional and Metabolic Diseases (504) · Genetic Diseases, Inborn (496) · Metabolic Diseases (484) · Metabolism, Inborn Errors (472) · Nervous System Diseases (353) · Central Nervous System Diseases (344) · Brain Diseases (341) · Brain Diseases, Metabolic (334) · Brain Diseases, Metabolic, Inborn (332) · Eye Diseases (78) · Pathological Conditions, Signs and Symptoms (72) · Skin and Connective Tissue Diseases (70) · Mitochondrial Diseases (68)
Ganciclovir (44) · sapropterin (36) · pegvaliase (16) · nitisinone (13) · glycerol phenylbutyrate (10) · Valganciclovir (9) · Foscarnet (8) · carglumic acid (7) · 4-phenylbutyric acid (6) · Blood Specimen Collection (6) · Folic Acid (6) · Zidovudine (4) · phenoptin (4) · sepiapterin (4) · Acetylcysteine (3)
BioMarin Pharmaceutical (36) · National Institute of Allergy and Infectious Diseases (NIAID) (23) · National Human Genome Research Institute (NHGRI) (13) · Vitaflo International, Ltd (13) · Hoffmann-La Roche (12) · Amgen (10) · Baylor College of Medicine (7) · Nutricia UK Ltd (7) · Emory University (6) · Otsuka Pharmaceutical Development & Commercialization, Inc. (6) · Ultragenyx Pharmaceutical Inc (6) · Assiut University (5) · Boston Children's Hospital (5) · ModernaTX, Inc. (5) · National Center for Research Resources (NCRR) (5)
United States (256) · United Kingdom (73) · France (56) · Canada (44) · Germany (38) · Italy (37) · Spain (31) · Netherlands (22) · Australia (21) · China (21) · Belgium (19) · Switzerland (18) · Turkey (Türkiye) (15) · Portugal (12) · Poland (11)
Anita MacDonald (8) · Nicholas Ah Mew, MD (5) · Michael Imperiale, MD (4) · Rajavel Elango, PhD (4) · Wendy J Introne, M.D. (4) · Anita MacDonald, Professor (3) · Charles P Venditti, M.D. (3) · Mattias Rudebeck, PhD MSc BMedSc (3) · Mendel Tuchman, MD (3) · Andrea Gropman, MD (2)
PMID 24144944, PMID 22961727, PMID 32593547, PMID 40411344, PMID 20188616, PMID 28465125, PMID 29445374, PMID 30369044, PMID 33325055, PMID 34826353, PMID 38700045, PMID 39807668, PMID 41989430, PMID 11740200, PMID 12050336, PMID 12141594, PMID 12578222, PMID 12736767, PMID 12999819, PMID 14523139, PMID 14640675, PMID 14724301, PMID 15026283, PMID 15110326, PMID 15498605, PMID 17135281, PMID 17145250, PMID 17280537, PMID 17296823, PMID 17296824, PMID 17693179, PMID 18307999, PMID 18343349, PMID 18414145, PMID 18562231, PMID 18566668, PMID 18662894, PMID 18765162, PMID 19261295, PMID 19287347, PMID 19632953, PMID 19660971, PMID 19709765, PMID 19737697, PMID 19737719, PMID 19738014, PMID 19758877, PMID 19829124, PMID 19889649, PMID 20004862
2018 (4), 2016 (3), 2025 (3), U54HD061221 (3), 2009 (2), 2023 (2), U54RR019453 (2), 2015 (1), 2019 (1), N01AI30025 (1), R01HD058567 (1), R01HL045267 (1), R01HL052630 (1), R01HL054711 (1), R21DK077415 (1)