254 completed, 74 terminated, 64 recruiting, 57 unknown. 515 Phase 3, 119 Phase 2.
Follow Congenital Abnormalities: new trials by email Literature Review of Congenital Abnormalities trials Research Report on Congenital Abnormalities
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 of a MEK Inhibitor for RASopathy-Associated Severe Infantile Hypertrophic Cardiomyopathy: Baby MERIT Trametinib - HCM, Noonan Syndrome and Other Rasopathy | Phase 3 | Not yet recruiting | Carelon Research | 25 | 2027-08-01 | 2026-09-14 |
| Surgery Versus Intra-lesional Sclerosis With Polidocanol (Aetoxisclerol) in Labial Venous Malformations in Children and Adults Excision by surgery of the superficial venous malformation, Sclerotherapy with Aetoxisclerol 3% - Venous Malformation, Vascular Malformations | Phase 3 | Not yet recruiting | University Hospital, Tours | 50 | 2027-01-01 | 2026-11-12 |
| A Pilot Multicentric Open Study Assessing the Efficacy and Safety of NEMOlizumab in Patients ≥ 12yo With Dystrophic Epidermolysis Bullosa Neolizumab - Dystrophic Epidermolysis Bullosa | Phase 2 / Phase 3 | Not yet recruiting | Centre Hospitalier Universitaire de Nice | 15 | 2026-12-31 | 2026-11-09 |
| 24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome N-acetylcysteine amide, Placebo - Retinitis Pigmentosa (RP), Usher Syndrome | Phase 3 | Not yet recruiting | Nacuity Pharmaceuticals, Inc. | 80 | 2026-12-01 | 2026-07-01 |
| A Study to Investigate the Effects and Safety of Codabakalner for the Treatment of FXS in Male Participants and Adult Participants With ADS Codabakalner, Placebo - Fragile X Syndrome (FXS), Autism Spectrum Disorder (ASD) | Phase 2 / Phase 3 | Not yet recruiting | Spinogenix | 120 | 2026-12-01 | 2026-10-09 |
| An Open Label Extension Safety Study to Evaluate SD-101 in Epidermolysis Bullosa SD-101 Dermal Cream (6%) - Epidermolysis Bullosa (EB) | Phase 3 | Not yet recruiting | Paradigm Therapeutics | 80 | 2026-11-15 | 2026-09-09 |
| SEMAFORCRANIO : Multicenter, Double-blind, Parallel, Randomized Controlled Trial of the Efficacy of Semaglutide in Hypothalamic Obesity Secondary to Craniopharyngioma in Children Aged 12 to 17 Years Semaglutide (Wegovy) weekly injection, Placebo weekly Injection - Craniopharyngioma, Child | Phase 3 | Not yet recruiting | University Hospital, Angers | 50 | 2026-11-01 | 2026-09-29 |
| Effects of Butyrate Enemas on Postoperative Intestinal Motility Disorders in Hirschsprung's Disease Sodium Butyrate, routine management - Hirschsprung's Disease | Phase 3 | Not yet recruiting | Assistance Publique Hopitaux De Marseille | 58 | 2026-11-01 | 2026-09-10 |
| A 24-Month Trial of NPI-001 for the Preservation of Photoreceptors in Retinitis Pigmentosa Associated With Usher Syndrome Placebo, NPI-001 - Retinitis Pigmentosa (RP), Usher Syndrome | Phase 3 | Recruiting | Nacuity Pharmaceuticals, Inc. | 80 | 2026-10-23 | 2026-11-10 |
| Migraine Headaches Elimination With Patent Foramen Ovale-Directed Therapy Prasugrel 5mg, Transcatheter Closure of Patent Foramen Ovale - Migraine Disease, Patent Foramen Ovale | Phase 3 | Recruiting | Columbia University | 32 | 2026-10-15 | 2026-10-08 |
| The Ultrasound-Guided Dextrose Prolotherapy in Ehlers-Danlos Syndrome Patients Dextrose 50% Intravenous Solution, Lidocaine 1% Injectable Solution - Ehlers-Danlos Syndrome, Low Back Pain | Phase 3 | Withdrawn | Tulane University | 2026-10-05 | 2026-10-08 | |
| CHAMPION: A Study to Evaluate the Efficacy and Safety of Obudanersen (ION582) in Children and Adults With Angelman Syndrome (AS) obudanersen - Angelman Syndrome | Phase 3 | Recruiting | Ionis Pharmaceuticals, Inc. | 30 | 2026-09-30 | 2026-10-20 |
| A Trial to Assess the Efficacy and Safety of Engasertib in Participants With Moderate to Severe Hereditary Hemorrhagic Telangiectasia (HHT) Engasertib, Placebo - Hereditary Hemorrhagic Telangiectasia | Phase 3 | Recruiting | Vaderis Therapeutics AG | 240 | 2026-09-01 | 2026-09-17 |
| Everolimus bAsed caLcineurin inhibiTor frEe immunosuppRession oNe Year AfTer lIver transplantatiON (ALTERNATION) Everolimus, Tacrolimus or Cyclosporine - Liver Allograft, Liver Diseases | Phase 3 | Recruiting | Hannover Medical School | 150 | 2026-08-19 | 2026-10-05 |
| Efficacy and Safety Study to Evaluate SD-101 in Epidermolysis Bullosa SD-101 Dermal Cream (6%), Vehicle (SD-101 0%) - Epidermolysis Bullosa (EB) | Phase 3 | Recruiting | Paradigm Therapeutics | 80 | 2026-07-21 | 2026-10-15 |
| The Efficacy and Safety of Inpegsomatropin Injection in Children With Turner Syndrome (TS) and Short Stature Inpegsomatropin-Injection, Givopegsomatropin Solution Injection - Turner Syndrome | Phase 3 | Recruiting | Xiamen Amoytop Biotech Co., Ltd. | 84 | 2026-07-05 | 2026-07-22 |
| Futibatinib (TAS-120) in Patients With Advanced Biliary Tract Cancer Futibatinib, Zimberelimab, Durvalumab - Biliary Tract Cancer | Phase 3 | Recruiting | Taiho Pharmaceutical Co., Ltd. | 784 | 2026-06-24 | 2026-07-17 |
| BEACON - Phase III Clinical Study of Rugonersen in Angelman Syndrome. rugonersen, Sham procedure - Angelman Syndrome | Phase 3 | Recruiting | OHB Pediatrics Ltd. | 165 | 2026-06-23 | 2026-11-06 |
| Phase III Clinical Trial of Changji'an Capsules in the Treatment of Irritable Bowel Syndrome With Predominant Diarrhea (Liver-Qi Invading Spleen Syndrome) Chang Ji'an capsule, Chang Ji'an capsule mimic - IBS, Diarrhea Predominant | Phase 3 | Not yet recruiting | Beijing Hospital of Traditional Chinese Medicine | 636 | 2026-05-31 | 2026-05-28 |
| SGLT2 Inhibition With Empagliflozin in Fontan Circulatory Failure Empagliflozin 10 mg, Placebo - Congenital Heart Disease | Phase 3 | Recruiting | Subodh Verma | 410 | 2026-05-29 | 2026-09-02 |
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Heart Defects, Congenital (47) · Polycystic Kidney, Autosomal Dominant (38) · Leukemia, Myeloid, Acute (30) · Prader-Willi Syndrome (25) · Leukemia (24) · Hereditary Sensory and Autonomic Neuropathies (20) · Ductus Arteriosus, Patent (19) · Tuberous Sclerosis (19) · Down Syndrome (17) · Leukemia, Erythroblastic, Acute (16) · Leukemia, Megakaryoblastic, Acute (16) · Leukemia, Monocytic, Acute (16) · Leukemia, Myelomonocytic, Acute (16) · Myelodysplastic Syndromes (15)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (514) · Genetic Diseases, Inborn (258) · Cardiovascular Diseases (186) · Cardiovascular Abnormalities (163) · Nervous System Diseases (155) · Abnormalities, Multiple (139) · Pathological Conditions, Signs and Symptoms (127) · Heart Diseases (124) · Female Urogenital Diseases and Pregnancy Complications (115) · Urogenital Diseases (115) · Female Urogenital Diseases (108) · Male Urogenital Diseases (106) · Neurologic Manifestations (87) · Heart Defects, Congenital (85)
Cytarabine (19) · Daunorubicin (15) · Sirolimus (15) · Human Growth Hormone (12) · Etoposide (11) · Tolvaptan (10) · Ibuprofen (9) · Saline Solution (9) · Acetaminophen (8) · Everolimus (8) · Cyclophosphamide (7) · Losartan (7) · Sodium Chloride (7) · Bupivacaine (6) · Busulfan (6)
Assistance Publique - Hôpitaux de Paris (11) · Novartis Pharmaceuticals (9) · Novo Nordisk A/S (8) · Otsuka Pharmaceutical Development & Commercialization, Inc. (7) · The Hospital for Sick Children (7) · University Hospital, Toulouse (7) · Rhythm Pharmaceuticals, Inc. (6) · Hospices Civils de Lyon (5) · Palvella Therapeutics, Inc. (5) · Pfizer (5) · Actelion (4) · Assiut University (4) · Children's Oncology Group (4) · European Organisation for Research and Treatment of Cancer - EORTC (4) · Johns Hopkins University (4)
United States (267) · France (110) · United Kingdom (97) · Canada (89) · Germany (81) · Spain (71) · Italy (70) · Netherlands (67) · Australia (57) · Belgium (55) · Poland (44) · Israel (33) · China (29) · Japan (29) · Austria (27)
David Meeker, MD (6) · Paul Wang, M.D. (3) · Alan K. Burnett, MD, FRCP (2) · Arlene Chapman, M.D. (2) · Brian McCrindle, MD (2)
PMID 39356039, PMID 30936738, PMID 31375516, PMID 36184192, PMID 36191725, PMID 37250503, PMID 31014270, PMID 33395098, PMID 37460782, PMID 17911499, PMID 22065264, PMID 23258386, PMID 26091193, PMID 26554876, PMID 27578134, PMID 29023494, PMID 30053159, PMID 31171508, PMID 33159213, PMID 33527139, PMID 34957550, PMID 36567000, PMID 37267439, PMID 37349694, PMID 37919617, PMID 38671361, PMID 38825327, PMID 38837240, PMID 42821228, PMID 11430325, PMID 12622582, PMID 15784709, PMID 16203673, PMID 16221708, PMID 16484584, PMID 16601194, PMID 16647401, PMID 16757526, PMID 16765134, PMID 16769377, PMID 17188612, PMID 17188619, PMID 17210844, PMID 17307535, PMID 17315155, PMID 17606845, PMID 17868472, PMID 17962585, PMID 18242267, PMID 18245398
2015 (9), 2023 (7), 2025 (7), 2016 (6), 2008 (5), 2017 (5), 2018 (5), 2005 (4), U10CA180886 (4), 2009 (3), 2014 (3), 2019 (3), P30CA068485 (3), U01HL068270 (3), U10CA031946 (3)