324 completed, 92 unknown, 69 recruiting, 29 not yet recruiting. 572 Not applicable.
| Phase | Trials | Status |
|---|---|---|
| Not applicable | 572 | Completed 324, Unknown 92, Recruiting 69, Not yet recruiting 29, Active not recruiting 21, Terminated 18, Withdrawn 11, Enrolling by invitation 7, Suspended 1 |
Follow Metabolism, Inborn Errors: new trials by email Literature Review of Metabolism, Inborn Errors trials Research Report on 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 |
|---|---|---|---|---|---|---|
| Lentiviral Hematopoietic Stem Cell Gene Therapy for MLD Lentiviral TYF-ARSA correction of patient's autologous HSCs - Metachromatic Leukodystrophy (MLD) | Not applicable | Not yet recruiting | Shenzhen Geno-Immune Medical Institute | 10 | 2027-06-01 | 2026-11-02 |
| IT and IV Lentiviral Gene Therapy for X-ALD Intrathecal and intravenous LV gene therapy - X-linked Adrenoleukodystrophy | Not applicable | Not yet recruiting | Shenzhen Geno-Immune Medical Institute | 30 | 2027-06-01 | 2026-11-02 |
| Direct Lentiviral Injection Gene Therapy for MLD Intrathecal and intravenous LV gene therapy - Metachromatic Leukodystrophy (MLD) | Not applicable | Not yet recruiting | Shenzhen Geno-Immune Medical Institute | 10 | 2027-05-31 | 2026-11-02 |
| Therapeutic Implications of CMR Low Native T1 in Non-treated Non-hypertrophic Females With Fabry Disease (FD) Decision tree for initiating treatment - Fabry Disease | Not applicable | Not yet recruiting | University Hospital, Bordeaux | 60 | 2026-11-01 | 2026-10-14 |
| Cascade Testing In Identifying At-risk Family Members Of Individuals With Familial Hypercholesterolemia (FH) In PCP Cascade testing, Standard of Care - Familial Hypercholesterolemia | Not applicable | Not yet recruiting | Mayo Clinic | 480 | 2026-10-20 | 2026-09-18 |
| 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 |
| 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 |
| Pharmacist-Led Treat-to-Target Urate Lowering Therapy in Patients With Gout Pharmacist-Led - Gout, Gouty Arthritis | Not applicable | Recruiting | VA Office of Research and Development | 310 | 2026-10-01 | 2026-10-21 |
| Impact of a Cardiac Rehabilitation Program on Patients With Cardiac Amyloidosis Cardiac Rehabilitation Program - Amyloidosis | Not applicable | Recruiting | University Hospital, Montpellier | 40 | 2026-09-23 | 2026-10-08 |
| Individualized Exercise Training in Cardiac Amyloidosis Exercise Intervention, Physical Activity Handout - Cardiac Amyloidosis | Not applicable | Not yet recruiting | Oregon Health and Science University | 60 | 2026-09-15 | 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 |
| Prevalence of Cardiac Thrombi in Cardiac Amyloidosis Cardiac CT scan with contrast - Cardiac Amyloidosis | Not applicable | Recruiting | Centre Hospitalier Universitaire Dijon | 200 | 2026-09-07 | 2026-09-17 |
| Detection of Cardiac Amyloidosis Using Right Ventricular Sensing Amplitude in Patients With Left Ventricular Hypertrophy Cardiac amyloidosis screening during CIED implantation - Cardiac Amyloidosis, Left Ventricular Hypertrophy | Not applicable | Not yet recruiting | Assistance Publique - Hôpitaux de Paris | 242 | 2026-09-01 | 2026-07-29 |
| Morphology in Oral Rare Syndromes & Artificial Intelligence for Clinical Diagnosis intra-oral 3D optical impression - Osteogenesis Imperfecta, Rare Bone Disorders | Not applicable | Not yet recruiting | University Hospital, Bordeaux | 240 | 2026-09-01 | 2026-06-24 |
| Screening for Disorders of Lipid Metabolism and Familial Hyperlipidemia in Children and Adolescents With Increased Cardiovascular Risk Due to Chronic Diseases Such as Congenital Heart Disease, Chronic Inflammatory Bowel Disease, Celiac Disease and Rheumatic Disorders blood test, questionaire - Lipid Metabolism Disorders, Lipid Metabolism, Inborn Errors | Not applicable | Recruiting | Alexandra Miriam Kiess | 600 | 2026-08-01 | 2026-07-21 |
| AI-based Echocardiography for Detection of Cardiac Amyloidosis AI-based echocardiogram - Cardiac Amyloidosis, Heart Failure With Preserved Ejection Fraction (HFPEF) | Not applicable | Not yet recruiting | Germans Trias i Pujol Hospital | 200 | 2026-07-01 | 2026-06-12 |
| Early Screening for Cardiac Amyloid Using a History of Bilateral Carpal Tunnel Syndrome Technetium-99m Pyrophosphate (Tc-99m PYP) Scan - Bilateral Carpal Tunnel Syndrome (Diagnosis), Cardiac Amyloidosis | Not applicable | Not yet recruiting | London Health Sciences Centre Research Institute OR Lawson Research Institute of St. Joseph's | 139 | 2026-07-01 | 2026-05-12 |
| Milk for Diabetes Prevention Lactose-Containing Milk, Lactose-Free Milk - Lactose Intolerance, Lactose Intolerant | Not applicable | Recruiting | Albert Einstein College of Medicine | 40 | 2026-05-15 | 2026-05-26 |
| Digital Care for Holistic Health in Older Adults With Diabetes and Multimorbidity Digital Care Community Common Good Program, Usual Care - Type2Diabetes, Hypertension | Not applicable | Recruiting | Chang Gung University of Science and Technology | 169 | 2026-05-12 | 2026-08-21 |
| A Study Evaluating the Impact of Regular FODMAP-targeting Digestive Enzyme Blend Use on Gastrointestinal Symptoms in Individuals With Self-Reported Bloating FODMAP-targeting digestive enzyme blend, Placebo - IBS (Irritable Bowel Syndrome), Bloating | Not applicable | Recruiting | Kiwi Health Inc | 150 | 2026-05-04 | 2026-05-15 |
Showing 20 of 572. Sign in to see all of them.
Gout (57) · Phenylketonurias (54) · Hyperlipoproteinemia Type II (46) · Amyloid Neuropathies, Familial (43) · Lactose Intolerance (31) · Multiple Acyl Coenzyme A Dehydrogenase Deficiency (25) · Fabry Disease (24) · Mucopolysaccharidosis IV (23) · Glycogen Storage Disease Type II (20) · HIV Infections (20) · Acquired Immunodeficiency Syndrome (19) · Hepatolenticular Degeneration (17) · Cytomegalovirus Infections (16) · Motor Activity (16)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (572) · Nutritional and Metabolic Diseases (570) · Genetic Diseases, Inborn (564) · Metabolic Diseases (560) · Nervous System Diseases (256) · Central Nervous System Diseases (198) · Brain Diseases (197) · Brain Diseases, Metabolic (186) · Brain Diseases, Metabolic, Inborn (186) · Lipid Metabolism Disorders (139) · Lipid Metabolism, Inborn Errors (134) · Amino Acid Metabolism, Inborn Errors (124) · Carbohydrate Metabolism, Inborn Errors (116) · Pathological Conditions, Signs and Symptoms (106)
Ganciclovir (21) · Blood Specimen Collection (14) · Exercise (10) · Standard of Care (6) · Febuxostat (5) · Probiotics (5) · Cysteamine (4) · Diet Therapy (4) · Folic Acid (4) · Genetic Testing (4) · Hematologic Tests (4) · Diet (3) · Epidemiologic Studies (3) · Galactose (3) · High-Energy Shock Waves (3)
Assistance Publique - Hôpitaux de Paris (14) · Vitaflo International, Ltd (13) · Hoffmann-La Roche (11) · Copenhagen University Hospital, Rigshospitalet (8) · University Hospital, Bordeaux (8) · Nutricia UK Ltd (7) · Hospices Civils de Lyon (6) · Lille Catholic University (6) · Baylor College of Medicine (5) · Brigham and Women's Hospital (5) · Centre Hospitalier Universitaire de Nice (5) · Nantes University Hospital (5) · National Center for Research Resources (NCRR) (5) · National Taiwan University Hospital (5) · Oregon Health and Science University (5)
United States (157) · France (81) · United Kingdom (47) · Canada (24) · Denmark (24) · Germany (22) · Italy (22) · China (19) · Netherlands (15) · Switzerland (15) · Spain (13) · Turkey (Türkiye) (13) · Brazil (11) · Taiwan (11) · Belgium (7)
Anita MacDonald (7) · Dennis Savaiano, PhD (3) · Rajavel Elango, PhD (3) · Aline Marcadenti, PhD (2) · Athanasios Z Jamurtas, PhD (2) · Erlon O Abreu-Silva, MSc (2) · Gary Hubbard, Dr (2) · Marina Cuchel, MD, PhD (2) · Ni-Chung Lee, M.D., Ph.D (2) · Rebecca Stratton, PhD (2) · Sandesh CS Nagamani, MD, FACMG (2) · Tristan Pascart, MD, PhD (2) · William T Cade, PT, PhD (2)
PMID 22172492, PMID 25803389, PMID 31303277, PMID 33399399, PMID 33825853, PMID 34353864, PMID 37746085, PMID 38485432, PMID 40670924, PMID 11423928, PMID 11820919, PMID 12485966, PMID 12535399, PMID 12867348, PMID 14578207, PMID 15247520, PMID 1603628, PMID 16049943, PMID 162198, PMID 16675931, PMID 16818923, PMID 17053334, PMID 17164301, PMID 17230068, PMID 17316019, PMID 17320993, PMID 17384344, PMID 17520105, PMID 17652219, PMID 17915573, PMID 18252944, PMID 18650989, PMID 18996523, PMID 19081418, PMID 19195513, PMID 19220406, PMID 19602651, PMID 19833552, PMID 20103757, PMID 20110022, PMID 20610593, PMID 20719837, PMID 20816118, PMID 20934572, PMID 21183586, PMID 2119557, PMID 21295195, PMID 21474353, PMID 21525160, PMID 21590737
2016 (2), 2025 (2), 2017 (1), 2018 (1), I01CX002995 (1), P30AG064199 (1), P50AR060772 (1), R01CA204585 (1), R01DK088988 (1), R01HG012273 (1), R01HL073980 (1), R21AR061818 (1), R21AR069880 (1), R21DK132666 (1), R21HD078864 (1)