376 completed, 91 terminated, 60 recruiting, 42 unknown. 643 Phase 1, 241 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 |
|---|---|---|---|---|---|---|
| Epidermal Growth Factor Receptor Inhibition for Keratinopathies Erlotinib - Epidermolytic Ichthyosis, Palmoplantar Keratoderma | Phase 1 / Phase 2 | Not yet recruiting | Northwestern University | 44 | 2027-07-01 | 2026-08-03 |
| Phase I/IIa Trial of scAAV1.tMCK.NTF3 for Treatment of CMT1A scAAV1.tMCK.NTF3 - Charcot-Marie-Tooth Neuropathy Type 1A | Phase 1 / Phase 2 | Withdrawn | Nationwide Children's Hospital | 2027-04-01 | 2026-07-29 | |
| Regenerative Medicine for Joint Hypermobility and Instability Dextrose 20% Prolotherapy, Autologous Platelet-Rich Plasma, Doxycycline Hyclate Injectable (Investigational) - Ehlers-Danlos Syndrome Hypermobility Type (hEDS), Ehlers-Danlos Syndrome (EDS) | Phase 1 / Phase 2 | Not yet recruiting | Manhattan Pain Medicine, PLLC | 100 | 2027-01-15 | 2026-10-06 |
| Bioengineered Penile Tissue Constructs for Irreversibly Damaged Penile Corpora Autologous tissue engineered corpora - Urologic Diseases, Male Urogenital Diseases | Phase 1 | Not yet recruiting | Wake Forest University Health Sciences | 10 | 2027-01-01 | 2026-10-23 |
| Influence of Lung Volume Optimization Maneuver on Cardiac Output and Lung Compliance in Ventilated Children With Congenital Heart Disease Undergoing Surgical Repair End-expiratory lung volume optimization maneuver with PEEP titration, Standard Care (in control arm) - Congenital Heart Disease, Cardiopulmonary Bypass | Phase 1 / Phase 2 | Not yet recruiting | Charite University, Berlin, Germany | 80 | 2027-01-01 | 2026-10-15 |
| Phase 1b Study of TX002100 in Participants With Hematologic Support-Dependent Hereditary Hemorrhagic Telangiectasia (HHT) TX002100 - Hereditary Hemorrhagic Telangiectasia (HHT) | Phase 1 | Not yet recruiting | Tectonic Operating Company, Inc. | 20 | 2026-12-31 | 2026-10-15 |
| Study to Establish Safety, Tolerability and Pharmacokinetics of NRL-1049 in Healthy Adult Participants Following Multiple-Dose Administration NRL-1049, Placebo - Cerebral Cavernous Malformation | Phase 1 | Not yet recruiting | Neurelis, Inc. | 40 | 2026-11-11 | 2026-10-30 |
| Butyric Acid Supplementation for Gut Improvement After Cardiac Surgery in Kids 2 mL SunButyrate-TG, Placebo, 4 mL SunButyrate-TG - Congenital Heart Disease (CHD) | Phase 1 / Phase 2 | Recruiting | University of Nebraska | 105 | 2026-11-01 | 2026-10-30 |
| Absorption, Distribution, Metabolism, and Excretion of 14C-VX-407 After a Single Oral Dose 14C-VX-407 - Autosomal Dominant Polycystic Kidney Disease (ADPKD) | Phase 1 | Recruiting | Vertex Pharmaceuticals Incorporated | 8 | 2026-10-16 | 2026-10-30 |
| Escalating Doses of Memantine in Down Syndrome (MEDS-123) Memantine - Down Syndrome, Intellectual Disability | Phase 1 | Not yet recruiting | University Hospitals Cleveland Medical Center | 25 | 2026-10-14 | 2026-10-05 |
| Topical TOR-582 Treatment of Epistaxis in HHT Topical sirolimus ointment - Hereditary Hemorrhagic Telangiectasia (HHT), Epistaxis | Phase 1 | Not yet recruiting | Columbia University | 27 | 2026-10-01 | 2026-08-21 |
| Tolerability of Enteral NAC in Infants N-Acetylcysteine - Biliary Atresia | Phase 1 | Not yet recruiting | Sanjiv Harpavat | 12 | 2026-10-01 | 2026-03-04 |
| ATR 1072 in Participants With PRKAG2 Syndrome ATR 1072 - Cardiac Glycogenosis, Cardiomyopathy | Phase 1 / Phase 2 | Recruiting | Atrium Therapeutics | 37 | 2026-09-14 | 2026-09-18 |
| Effects of VX-407 on the Pharmacokinetics of Combined Oral Contraceptives VX-407, LNG/EE, NGM/EE - Autosomal Dominant Polycystic Kidney Disease (ADPKD) | Phase 1 | Recruiting | Vertex Pharmaceuticals Incorporated | 148 | 2026-09-01 | 2026-09-30 |
| Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of OMS1620 OMS1620, Placebo - Congenital Adrenal Hyperplasia (CAH) | Phase 1 | Not yet recruiting | OMass Therapeutics Australia Proprietary Ltd | 84 | 2026-09-01 | 2026-09-09 |
| Umbilical Cord Mesenchymal Stem Cell Therapy for Biliary Atresia Umbilical Cord-Mesenchymal Stem Cells (UC-MSC), Kasai Portoenterostomy - Biliary Atresia, Kasai Operation | Phase 1 | Recruiting | Dr Cipto Mangunkusumo General Hospital | 40 | 2026-09-01 | 2026-09-09 |
| NAD Augmentation to Prevent or Reverse Alzheimer's Disease in People With Down Syndrome MIB-626, Placebo - Down Syndrome (DS) | Phase 1 | Not yet recruiting | Brigham and Women's Hospital | 24 | 2026-08-31 | 2026-08-19 |
| A Study to Evaluate ARV-6723 Alone and With Pembrolizumab in Participants With Advanced Solid Tumors ARV-6723, Pembrolizumab, SOC - Advanced Solid Tumor | Phase 1 / Phase 2 | Recruiting | Arvinas Inc. | 499 | 2026-07-29 | 2026-10-13 |
| Harmony-HHT: ATV-1601 in Participants With Hereditary Hemorrhagic Telangiectasia (HHT) ATV-1601, Placebo - Hereditary Hemorrhagic Telangiectasia (HHT), Osler Weber Rendu Disease | Phase 1 / Phase 2 | Recruiting | Atavistik Bio, Inc | 100 | 2026-07-27 | 2026-10-29 |
| Safety, Tolerability, and Pharmacokinetics of SVG103 (Paxalisib) in Focal Cortical Dysplasia Type II (FCD-II), Tuberous Sclerosis Complex (TSC) or Hemimegalencephaly (HME) SVG103 - Focal Cortical Dysplasia, Tuberous Sclerosis Complex (TSC) | Phase 1 / Phase 2 | Recruiting | Sovargen | 12 | 2026-07-14 | 2026-08-10 |
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Leukemia, Myeloid, Acute (124) · Precursor Cell Lymphoblastic Leukemia-Lymphoma (75) · Leukemia (68) · Hereditary Sensory and Autonomic Neuropathies (55) · Blast Crisis (50) · Leukemia, Lymphocytic, Chronic, B-Cell (47) · Myelodysplastic Syndromes (47) · Leukemia, Myeloid, Accelerated Phase (43) · Leukemia, Monocytic, Acute (42) · Leukemia, Erythroblastic, Acute (41) · Leukemia, Myelomonocytic, Acute (41) · Leukemia, Megakaryoblastic, Acute (40) · Leukemia, Myelomonocytic, Chronic (40) · Lymphoma, Mantle-Cell (40)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (642) · Genetic Diseases, Inborn (274) · Neoplasms (215) · Neoplasms by Histologic Type (200) · Pathological Conditions, Signs and Symptoms (189) · Hemic and Lymphatic Diseases (187) · Cardiovascular Diseases (181) · Nervous System Diseases (179) · Hematologic Diseases (168) · Pathologic Processes (148) · Leukemia, Myeloid (131) · Cardiovascular Abnormalities (127) · Skin and Connective Tissue Diseases (119) · Bone Marrow Diseases (118)
Cytarabine (43) · fludarabine phosphate (22) · Peripheral Blood Stem Cell Transplantation (20) · Etoposide (16) · Cyclophosphamide (15) · Mycophenolic Acid (14) · Cyclosporine (13) · Mitoxantrone (13) · Everolimus (11) · Filgrastim (11) · Tacrolimus (11) · Antilymphocyte Serum (10) · Busulfan (10) · Idarubicin (10) · Daunorubicin (9)
National Cancer Institute (NCI) (34) · Fred Hutchinson Cancer Center (15) · Massachusetts General Hospital (9) · Novartis Pharmaceuticals (9) · University of California, Irvine (9) · Children's Hospital Medical Center, Cincinnati (8) · Sidney Kimmel Comprehensive Cancer Center at Johns Hopkins (8) · AstraZeneca (7) · Boston Children's Hospital (7) · Stanford University (7) · University of California, San Francisco (7) · Cairo University (6) · City of Hope Medical Center (6) · Masonic Cancer Center, University of Minnesota (6) · University of Southern California (6)
United States (444) · France (38) · United Kingdom (37) · Spain (36) · Canada (33) · Australia (29) · Germany (23) · China (21) · Italy (20) · Netherlands (16) · South Korea (15) · Japan (12) · Belgium (11) · Brazil (10) · Austria (8)
Roger Strair, MD, PhD (4) · Stephanie B Seminara, MD (4) · John Matthews, MBBS, MCRP, PhD (3) · Judith E. Karp, MD (3) · Livia MA Tenuta, PhD (3) · M. Louise Markert, MD, PhD (3) · Muhammad Y Qureshi, MBBS (3) · Timothy J Nelson, M.D., Ph.D. (3) · Alison Walker, MD (2) · B. Smith (2) · Carol A. Huff, MD (2)
PMID 18035553, PMID 18424759, PMID 18557726, PMID 19066739, PMID 20236866, PMID 39356039, PMID 15100156, PMID 17284531, PMID 23607606, PMID 23660685, PMID 31215818, PMID 34162982, PMID 35234826, PMID 38507752, PMID 39486058, PMID 41491634, PMID 11788640, PMID 12171484, PMID 12213860, PMID 12473512, PMID 14605787, PMID 14662594, PMID 15100681, PMID 16278404, PMID 16899778, PMID 17562873, PMID 17640728, PMID 17662768, PMID 17679729, PMID 17761590, PMID 18155964, PMID 18212521, PMID 18299450, PMID 18327587, PMID 18333898, PMID 18974373, PMID 19010875, PMID 19092853, PMID 19109557, PMID 19179301, PMID 19217726, PMID 19638218, PMID 19786617, PMID 19829004, PMID 20071660, PMID 20083693, PMID 20382682, PMID 20400682, PMID 20443823, PMID 20460644
P30CA006973 (8), 2023 (7), P30CA015704 (7), U01CA076576 (6), U01CA070095 (5), 2017 (4), K12HD043494 (4), P30CA033572 (4), P30CA072720 (4), R01AI047040 (4), R01AI054843 (4), U01CA062461 (4), 2016 (3), 2018 (3), 2025 (3)