20 recruiting. 20 Phase 4.
| Phase | Trials | Status |
|---|---|---|
| Phase 4 | 20 | Recruiting 20 |
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 |
|---|---|---|---|---|---|---|
| Clinical Trial in Patients With Barth Syndrome- 4TAZPower Elamipretide, Placebo - Barth Syndrome | Phase 4 | Recruiting | Stealth BioTherapeutics Inc. | 48 | 2026-07-02 | 2026-11-09 |
| SAVE-Care (Sodium Glucose Cotransporter-2 Inhibitors [SGLT2i] As Novel Gout Care) Trial Empagliflozin 10 mg, Placebo - Gout and Hyperuricemia | Phase 4 | Recruiting | Massachusetts General Hospital | 60 | 2026-07-01 | 2026-08-05 |
| Cardiac Magnetic Resonance and Echocardiography Study With Acoramidis Acoramidis (AG10) oral tablet - Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM), Amyloidosis | Phase 4 | Recruiting | Eidos Therapeutics, a BridgeBio company | 150 | 2026-07-01 | 2026-07-29 |
| Immune Modulation During Palynziq® Treatment in Adults (IMPALA) Pegvaliase, Methotrexate - Phenylketonuria | Phase 4 | Recruiting | BioMarin Pharmaceutical | 12 | 2026-05-29 | 2026-11-10 |
| Isturisa Treatment in Mild Autonomous Cortisol Secretion( MACS) Osilodrostat (Isturisa) - Mild Autonomous Cortisol Secretion (MACS) | Phase 4 | Recruiting | Johns Hopkins University | 10 | 2026-02-02 | 2026-10-23 |
| Enavogliflozin for the Management of Patients With Amyloid CardiomyopaThy Enavogliflozin 0.3mg, Placebo - Amyloid Cardiomyopathy | Phase 4 | Recruiting | Seoul St. Mary's Hospital | 68 | 2026-01-06 | 2026-06-18 |
| Purified Cortrophin® Gel Efficacy and Safety Study of 2 Dose Levels in Patients With Acute Gout Flares Purified Cortophin Gel, 40 U, Purified Cortophin Gel 80 U - Gout Arthritis, Gout Flare | Phase 4 | Recruiting | Massachusetts General Hospital | 150 | 2025-12-20 | 2026-01-20 |
| the Effects of Febuxostat Dose Tapering in Gout Patients Optimally Controlled for 5 Years or More Febuxostat - Gout, Uric Acid | Phase 4 | Recruiting | Seoul National University Hospital | 59 | 2025-09-10 | 2026-04-29 |
| To Evaluate the Efficacy and Safety of Tafamidis Meglumine Soft Capsules in the Treatment of Adult Patients With Transthyretin Amyloid Polyneuropathy Tafamidis Meglumine Soft Capsules - Transthyretin Amyloid Polyneuropathy | Phase 4 | Recruiting | Qilu Pharmaceutical Co., Ltd. | 15 | 2025-06-19 | 2025-07-30 |
| China Post-approval Commitment (PAC) Study of Avalglucosidase Alfa in Participants With IOPD Avalglucosidase alfa - Glycogen Storage Disease Type II, Pompe's Disease | Phase 4 | Recruiting | Genzyme, a Sanofi Company | 13 | 2025-05-07 | 2026-03-23 |
| Effect of Dotinurad in Hyperuricemia With Hypertension Dotinurad, Febuxostat - Hyperuricemia or Gout, Hypertension | Phase 4 | Recruiting | Saga University | 360 | 2025-03-28 | 2025-12-15 |
| Primaquine for Vivax Malaria in G6PD Intermediate and Deficient Cases. Patients with G6PD enzyme activities between 30 and <70% of the AMM will be treated with schizontocidal treatment plus high dose primaquine 1mg/kg/day for 7 days, Patients with G6PD enzyme activities <30% of the AMM will be treated with schizontocidal treatment plus 8 weekly primaquine (0.75mg/kg dose). - Vivax Malaria, G6PD Deficiency | Phase 4 | Recruiting | Menzies School of Health Research | 100 | 2024-05-17 | 2026-03-12 |
| Exploratory Study on the Treatment of Gout With Potassium Citrate Sustained-release Tablets Sodium Bicarbonate Oral Capsule, Potassium Citrate Tablets, uric-acid-lowering drug - Hyperuricemia or Gout, Nephrolithiasis | Phase 4 | Recruiting | Huashan Hospital | 312 | 2024-04-10 | 2025-05-13 |
| Treat-to-Target Serum Urate Versus Treat-to-Avoid Symptoms in Gout Allopurinol, Naproxen 250 MG, Colchicine 0.6 mg - Gout | Phase 4 | Recruiting | Massachusetts General Hospital | 650 | 2024-02-22 | 2026-11-06 |
| Ultrasound Therapy In Cardiac Amyloidosis Sonotherapy - Amyloidosis Cardiac | Phase 4 | Recruiting | Brigham and Women's Hospital | 70 | 2023-08-31 | 2026-08-21 |
| Comparing Efficacy of 8-Week and 12-Week Faricimab Initial Follow-Up Treatment Intervals Faricimab Injection - Wet Age-related Macular Degeneration | Phase 4 | Recruiting | Faculty Hospital Kralovske Vinohrady | 100 | 2023-03-31 | 2025-03-13 |
| A Study of Replagal in Children and Adults With Fabry Disease in India Replagal - Fabry Disease | Phase 4 | Recruiting | Shire | 5 | 2022-11-01 | 2026-09-03 |
| Effect of Theophylline in Pseudohypoparathyroidism Theophylline - PHP Ia, PHP IB | Phase 4 | Recruiting | Massachusetts General Hospital | 100 | 2019-11-11 | 2022-07-22 |
| Effects of Bisphosphonates on OI-Related Hearing Loss Risedronate Oral Tablet - Osteogenesis Imperfecta | Phase 4 | Recruiting | Hospital for Special Surgery, New York | 100 | 2019-11-02 | 2026-04-28 |
| Congenital Adrenal Hyperplasia Once Daily Hydrocortisone Treatment Conventional Glucocorticoids (immediate release hydrocortisone, cortisone acetate, prednisone, prednisolone, dexamethasone), Dual release hydrocortisone (plenadren) - Congenital Adrenal Hyperplasia | Phase 4 | Recruiting | Federico II University | 150 | 2016-08-11 | 2025-09-16 |
Gout (6) · Amyloid Neuropathies, Familial (4) · Hyperuricemia (3) · Adrenal Hyperplasia, Congenital (2) · Glycogen Storage Disease Type II (2) · Hypertension (2) · ACTH Syndrome, Ectopic (1) · Alzheimer Disease (1) · Amyloidosis (1) · Amyloidosis, Hereditary, Transthyretin-Related (1) · Arthritis, Gouty (1) · Barth Syndrome (1) · Brittle Bone Disorder (1) · Cardiomyopathies (1) · Fabry Disease (1)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (20) · Genetic Diseases, Inborn (20) · Metabolic Diseases (20) · Nutritional and Metabolic Diseases (20) · Nervous System Diseases (9) · Musculoskeletal Diseases (8) · Arthritis (6) · Crystal Arthropathies (6) · Joint Diseases (6) · Purine-Pyrimidine Metabolism, Inborn Errors (6) · Rheumatic Diseases (6) · Brain Diseases (5) · Cardiovascular Diseases (5) · Central Nervous System Diseases (5)
Febuxostat (2) · Prednisone (2) · Allopurinol (1) · Colchicine (1) · Cortisone (1) · Dexamethasone (1) · Enavogliflozin (1) · GAA protein, human (1) · Methotrexate (1) · Naproxen (1) · Osilodrostat (1) · Potassium Citrate (1) · Prednisolone (1) · Primaquine (1) · Risedronic Acid (1)
Massachusetts General Hospital (4) · BioMarin Pharmaceutical (1) · Brigham and Women's Hospital (1) · Eidos Therapeutics, a BridgeBio company (1) · Faculty Hospital Kralovske Vinohrady (1) · Federico II University (1) · Genzyme, a Sanofi Company (1) · Hospital for Special Surgery, New York (1) · Huashan Hospital (1) · Johns Hopkins University (1) · Menzies School of Health Research (1) · Qilu Pharmaceutical Co., Ltd. (1) · Saga University (1) · Seoul National University Hospital (1) · Seoul St. Mary's Hospital (1)
United States (10) · China (3) · South Korea (2) · Australia (1) · Brazil (1) · Canada (1) · Czechia (1) · Ethiopia (1) · India (1) · Italy (1) · Japan (1) · Papua New Guinea (1) · United Kingdom (1)
Hyon K Choi, MD, DrPH (2) · Amir Hamrahian, MD (1) · Cathleen Raggio, MD (1) · Hyon K Choi, MD, PhD (1) · Jong-Chan Youn, MD, PhD (1) · Koichi Node, Pr.,Dr. (1) · Martin Pencak, MD (1) · Rekha Sathyanarayana (1) · Sharmila Dorbala, MD (1) · Yun Jong Lee, MD, PhD (1)
PMID 27454103, PMID 28887710, PMID 29510982, PMID 30817193, PMID 31206616, PMID 35220871, PMID 3536461, PMID 35817047, PMID 36952249, PMID 37318239, PMID 37621153, PMID 37801655, PMID 38866445, PMID 39062179, PMID 39086899, PMID 6135282
R61AR084188 (1), U01AR080985 (1)