inborn disorder of amino acid metabolism
inborn disorder of amino acid metabolism
Explore linked clinical trials. Standard reference: MONDO:0004736106 results · Page 1 of 5
Clinical trials
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| Trial | Conditions | Status | Phase | Updated | More info | NCT ID |
|---|---|---|---|---|---|---|
| Market Research of a Slow Release Protein Substitute for the Dietary Management of PKU | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, nervous system disorder, phenylketonuria | Not yet recruiting | Not applicable | 2026-10-09 | NCT07802366 | |
| Phase 1/2 Study of KRRO-121 in Healthy Volunteers and Patients With UCD | Adult-onset citrullinemia type 2, Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, X-linked disease, arginase deficiency, argininosuccinic aciduria, brain disorder, central nervous system disorder, hereditary disease, hyperammonemia due to N-acetylglutamate synthase deficiency, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, nervous system disorder, ornithine carbamoyltransferase deficiency, urea cycle disorder | Recruiting | Phase 1 / Phase 2 | 2026-10-08 | NCT07773246 | |
| A Study of MZE782 in Adults With PKU | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, nervous system disorder, phenylketonuria | Recruiting | Phase 2 | 2026-10-08 | NCT07694440 | |
| Pegtibatinase as a Treatment for Participants With Classical Homocystinuria (HCU) Receiving Standard of Care Treatment | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, Skin and Connective Tissue Diseases, brain disorder, central nervous system disorder, connective tissue disorder, hereditary disease, homocystinuria, hyperhomocysteinemia, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, nervous system disorder | Recruiting | Phase 3 | 2026-10-08 | NCT06247085 | |
| Analysis of Specimens From Individuals With Pulmonary Fibrosis | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Hereditary, Fibrosis, Hemic and Lymphatic Diseases, Hermansky-Pudlak syndrome, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Skin and Connective Tissue Diseases, albinism, blood coagulation disease, blood platelet disease, eye disorder, hematologic disorder, hemorrhagic disease, hereditary disease, hereditary skin disorder, hypopigmentation of the skin, inborn disorder of amino acid metabolism, inborn errors of metabolism, inherited blood coagulation disorder, interstitial lung disease, lung disorder, metabolic disease, oculocutaneous albinism, platelet storage pool deficiency, pulmonary fibrosis, respiratory system disorder, skin disorder, skin pigmentation disorder | Active, not recruiting | Not stated | 2026-10-08 | NCT00084305 | |
| Clinical and Laboratory Study of Methylmalonic Acidemia | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, hereditary disease, hyperhomocysteinemia, inborn disorder of amino acid metabolism, inborn errors of metabolism, inborn organic aciduria, malabsorption syndrome, metabolic disease, methylmalonic acidemia, nutritional deficiency disease, nutritional disorder, vitamin B deficiency, vitamin deficiency disorder | Recruiting | Not stated | 2026-10-08 | NCT00078078 | |
| Clinical and Basic Investigations Into Hermansky-Pudlak Syndrome | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Eye Diseases, Hereditary, Fibrosis, Hemic and Lymphatic Diseases, Hermansky-Pudlak syndrome, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, Skin and Connective Tissue Diseases, albinism, blood coagulation disease, blood platelet disease, digestive system disorder, eye disorder, gastroenteritis, hematologic disorder, hemorrhagic disease, hereditary disease, hereditary skin disorder, hypopigmentation of the skin, inborn disorder of amino acid metabolism, inborn errors of metabolism, inflammatory bowel disease, inherited blood coagulation disorder, interstitial lung disease, intestinal disorder, lung disorder, metabolic disease, oculocutaneous albinism, platelet storage pool deficiency, pulmonary fibrosis, respiratory system disorder, skin disorder, skin pigmentation disorder | Recruiting | Not stated | 2026-10-08 | NCT00001456 | |
| Impact Of A Phe-Restricted Diet On Gut Health In Children With PKU | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, nervous system disorder, phenylketonuria | Recruiting | Not stated | 2026-10-06 | NCT07728032 | |
| An Evaluation of Nutritional Status, Body Composition, and Dietary Intakes of Filipino Pediatric Patients With Inborn Errors of Intermediary Protein Metabolism | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease | Recruiting | Not stated | 2026-10-01 | NCT07837336 | |
| An Open-label Study to Investigate ECUR-506 in Male Babies Less Than 9 Months of Age With Neonatal Onset OTC Deficiency | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Hyperammonemia, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, X-linked disease, brain disorder, central nervous system disorder, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, liver disorder, metabolic disease, nervous system disorder, ornithine carbamoyltransferase deficiency, urea cycle disorder | Active, not recruiting | Phase 3 | 2026-09-30 | NCT06255782 | |
| A Study to Evaluate Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of AG-181 in Subjects With Phenylketonuria | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, nervous system disorder, phenylketonuria | Recruiting | Phase 1 | 2026-09-28 | NCT07241234 | |
| Natural History, Physiology, Microbiome and Biochemistry Studies of Propionic Acidemia | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, inborn organic aciduria, metabolic disease, propionic acidemia | Recruiting | Not stated | 2026-09-28 | NCT02890342 | |
| PKU Microtablets Case Studies | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, nervous system disorder, phenylketonuria | Not yet recruiting | Not applicable | 2026-09-23 | NCT07671859 | |
| The Impact of Frequency of Home Phenylalanine Measurements on Metabolic Control in a Population of Patients With Classic Phenylketonuria | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, nervous system disorder, phenylketonuria | Recruiting | Not applicable | 2026-09-17 | NCT07825883 | |
| Natural History of MADD | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, inborn mitochondrial metabolism disorder, metabolic disease, multiple acyl-CoA dehydrogenase deficiency | Recruiting | Not stated | 2026-09-16 | NCT07734090 | |
| To Evaluate the Safety and Efficacy of GS1168 Injection in Adult Phenylketonuria | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, nervous system disorder, phenylketonuria | Not yet recruiting | Early phase 1 | 2026-09-10 | NCT07318909 | |
| Clinical Study of DTX301 AAV-Mediated Gene Transfer for Ornithine Transcarbamylase (OTC) Deficiency | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, X-linked disease, brain disorder, central nervous system disorder, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, nervous system disorder, ornithine carbamoyltransferase deficiency, urea cycle disorder | Active, not recruiting | Phase 3 | 2026-09-09 | NCT05345171 | |
| Ovarian Tissue Cryopreservation in Pre-Pubertal (OTC-Pre Pubertal) | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, X-linked disease, brain disorder, cancer, central nervous system disorder, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, neoplasm, nervous system disorder, ornithine carbamoyltransferase deficiency, urea cycle disorder | Recruiting | Not stated | 2026-09-03 | NCT05299710 | |
| Study of Alkaptonuria | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, alkaptonuria, arthritic joint disease, arthropathy, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, musculoskeletal system disorder, ochronosis disorder | Recruiting | Not stated | 2026-09-01 | NCT00005909 | |
| Long-term Follow-up (LTFU) Study of Participants in Any iECURE Protocol Using an Investigational Product (IP) | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Digestive System Diseases, Hyperammonemia, Nutritional and Metabolic Diseases, Pathologic Processes, Pathological Conditions, Signs and Symptoms, X-linked disease, brain disorder, central nervous system disorder, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, liver disorder, metabolic disease, nervous system disorder, ornithine carbamoyltransferase deficiency, urea cycle disorder | Recruiting | Not stated | 2026-08-31 | NCT06805695 | |
| A Study of Sepiapterin in Participants With Phenylketonuria (PKU) | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, nervous system disorder, phenylketonuria | Recruiting | Phase 3 | 2026-08-28 | NCT06302348 | |
| Study of Chediak-Higashi Syndrome | Chediak-Higashi syndrome, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Eye Diseases, Hereditary, Hemic and Lymphatic Diseases, Infections, Nutritional and Metabolic Diseases, Primary Immunodeficiency Diseases, Skin and Connective Tissue Diseases, albinism, blood coagulation disease, blood platelet disease, eye disorder, hematologic disorder, hemorrhagic disease, hereditary disease, hereditary skin disorder, hypopigmentation of the skin, immune system disorder, inborn disorder of amino acid metabolism, inborn error of immunity, inborn errors of metabolism, leukocyte disorder, metabolic disease, phagocyte bactericidal dysfunction, platelet storage pool deficiency, skin disorder, skin pigmentation disorder | Recruiting | Not stated | 2026-08-28 | NCT00005917 | |
| Study of LNP.UCD.ABE in Patients With Urea Cycle Disorders | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, nervous system disorder, urea cycle disorder | Recruiting | Phase 1 / Phase 2 | 2026-08-26 | NCT07667387 | |
| PheCheck™ Validation Study | Brain Diseases, Metabolic, Brain Diseases, Metabolic, Inborn, Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, brain disorder, central nervous system disorder, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, nervous system disorder, phenylketonuria | Recruiting | Not stated | 2026-08-25 | NCT07551921 | |
| AAVrh10-PCCA Gene Therapy for Propionic Acidemia | Congenital, Hereditary, and Neonatal Diseases and Abnormalities, Nutritional and Metabolic Diseases, hereditary disease, inborn disorder of amino acid metabolism, inborn errors of metabolism, metabolic disease, propionic acidemia | Recruiting | Phase 1 | 2026-08-21 | NCT07643844 |