121 recruiting. 121 Phase 2, 34 Phase 1, 15 Phase 3.
| Phase | Trials | Status |
|---|---|---|
| Phase 2 | 121 | Recruiting 121 |
| Phase 1 | 34 | Recruiting 34 |
| Phase 3 | 15 | Recruiting 15 |
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 |
|---|---|---|---|---|---|---|
| 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 |
| A Study to Evaluate ENERGI-F703EB Cream in Epidermolysis Bullosa ENERGI-F703EB Cream, Matched vehicle cream - Epidermolysis Bullosa (EB), Junctional Epidermolysis Bullosa | Phase 2 | Recruiting | Energenesis Biomedical Co., Ltd. | 24 | 2026-10-08 | 2026-10-05 |
| Metyrapone Study for Patients Diagnosed With Mild Autonomous Cortisol Secretion - MACS Metyrapone 250 mg Oral Tablets, Placebo - Mild Autonomous Cortisol Secretion (MACS), Autonomous Cortisol Secretion (ACS) | Phase 2 | Recruiting | Mayo Clinic | 90 | 2026-10-01 | 2026-09-25 |
| 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 |
| Treatment of Low-flow Vascular Malformations With Bleomycin Electrosclerotherapy (BEST) Bleomycin Sulfate - Vascular Malformations | Phase 2 | Recruiting | Institute of Oncology Ljubljana | 140 | 2026-09-10 | 2026-10-09 |
| Bempedoic Acid Therapy for Polycystic Kidney Disease Bempedoic Acid 180 MG Oral Tablet, Placebo Capsule(s) - ADPKD (Autosomal Dominant Polycystic Kidney Disease) | Phase 2 | Recruiting | Kenneth Hallows | 120 | 2026-09-01 | 2026-09-29 |
| A Study to Evaluate Mivelsiran in Adult Participants With Early-Stage Down Syndrome-Associated Alzheimer's Disease (DS-AD) Mivelsiran, Placebo - Down Syndrome-Associated Alzheimer's Disease (DS-AD) | Phase 2 | Recruiting | Alnylam Pharmaceuticals | 58 | 2026-08-17 | 2026-10-13 |
| 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 |
| Metric-Optimized Spectacle Prescriptions for Children With Down Syndrome Metric-optimized spectacles, Routine Clinical Spectacles - Refractive Error Correction, Visual Acuity | Phase 2 | Recruiting | Ohio State University | 24 | 2026-07-13 | 2026-07-20 |
| Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Crinecerfont in Participants With Classic Congenital Adrenal Hyperplasia (CAH) Who Are Less Than 4 Years Old Crinecerfont - Congenital Adrenal Hyperplasia | Phase 2 | Recruiting | Neurocrine Switzerland GmbH | 20 | 2026-07-01 | 2026-09-16 |
| EXACT Study: A Blinded Study in Patients With Alport Syndrome to Evaluate Exaluren Efficacy and Safety Exaluren - Alport Syndrome, X-Linked, Alport Syndrome, Autosomal Recessive | Phase 2 | Recruiting | Eloxx Pharmaceuticals, Inc. | 24 | 2026-06-30 | 2026-09-30 |
| KCD (Carfilzomib/Cyclophosphamide/Dexamethasone) Regimen for the Treatment of Newly Diagnosed POEMS Syndrome CARFILZOMIB, CYCLOPHOSPHAMIDE, DEXAMETHASONE - POEMS Syndrome | Phase 2 | Recruiting | Shanghai Changzheng Hospital | 20 | 2026-06-15 | 2026-06-17 |
| DIAG723 in Adults With Hereditary Hemorrhagic Telangiectasia DIAG723, Placebo - Hereditary Hemorrhagic Telangiectasia, Pulmonary Arterial Hypertension | Phase 1 / Phase 2 | Recruiting | Diagonal Therapeutics, Inc. | 93 | 2026-06-04 | 2026-09-08 |
| Modulation of the Immune System in Down Syndrome for Improved Outcomes and Neurodevelopment - 1 Tofacitinib Oral Solution, Placebo - Down Syndrome | Phase 2 | Recruiting | University of Colorado, Denver | 92 | 2026-05-28 | 2026-09-03 |
| Safety, Tolerability, and Preliminary Effectiveness of CTH120 in Fragile X Syndrome CTH120, CTH120 placebo hard capsules - Fragile X Syndrome (FXS), Fragile X Syndrome | Phase 2 | Recruiting | Connecta Therapeutics, S.L. | 30 | 2026-05-21 | 2026-07-17 |
| A Study of CSTI-500 in Patients With Prader-Willi Syndrome CSTI-500 - Prader-Willi Syndrome | Phase 2 | Recruiting | ConSynance Therapeutics | 12 | 2026-05-18 | 2026-10-21 |
| Hematopoietic Stem Cell Transplantation (HSCT) for Common Variable Immunodeficiency (CVID) and Other Autoimmune Manifestations of Primary Immune Regulatory Disorders (PIRD) Hematopoietic stem cell transplant (HSCT) - Common Variable Immunodeficiency (CVID), Primary Immune Regulatory Disorder | Phase 2 | Recruiting | Paul Szabolcs | 25 | 2026-05-04 | 2026-05-15 |
| Sapanisertib and Serabelisib (PIKTOR) in Various Combinations in Patients With HR+/HER2- Advanced/Metastatic Breast Cancer Serabelisib, Sapanisertib, Fulvestrant - HR+ HER2- Breast Cancer | Phase 1 / Phase 2 | Recruiting | Faeth Therapeutics | 32 | 2026-04-22 | 2026-07-02 |
Showing 20 of 121. Sign in to see all of them.
Hereditary Sensory and Autonomic Neuropathies (14) · Down Syndrome (10) · Lymphatic Abnormalities (8) · Vascular Malformations (8) · Adrenal Hyperplasia, Congenital (6) · Epidermolysis Bullosa Dystrophica (6) · Epidermolysis Bullosa (5) · Neoplasms (5) · Polycystic Kidney, Autosomal Dominant (5) · Arteriovenous Malformations (4) · Breast Neoplasms (4) · Endometrial Neoplasms (4) · Fragile X Syndrome (4) · Heart Defects, Congenital (4)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (121) · Genetic Diseases, Inborn (68) · Nervous System Diseases (50) · Cardiovascular Diseases (33) · Abnormalities, Multiple (32) · Urogenital Diseases (27) · Cardiovascular Abnormalities (26) · Pathological Conditions, Signs and Symptoms (26) · Skin and Connective Tissue Diseases (26) · Female Urogenital Diseases and Pregnancy Complications (25) · Female Urogenital Diseases (24) · Nervous System Malformations (24) · Skin Diseases (23) · Heredodegenerative Disorders, Nervous System (22)
Sirolimus (5) · Alpelisib (4) · Alemtuzumab (3) · Cyclophosphamide (3) · Fulvestrant (3) · Melphalan (3) · fludarabine (3) · Bleomycin (2) · Dexamethasone (2) · Metformin (2) · Saline Solution (2) · Sodium Chloride (2) · Standard of Care (2) · Tacrolimus (2) · Whole-Body Irradiation (2)
National Cancer Institute (NCI) (3) · Quoin Pharmaceuticals (3) · Children's Hospital of Philadelphia (2) · Crinetics Pharmaceuticals Inc. (2) · Faeth Therapeutics (2) · Genesis Athens Clinic (2) · Hamilton Health Sciences Corporation (2) · Mayo Clinic (2) · Paul Szabolcs (2) · University of Colorado, Denver (2) · Vanderbilt University Medical Center (2) · West China Hospital (2) · AAVantgarde Bio Srl (1) · AC Immune SA (1) · Acrivon Therapeutics (1)
United States (73) · France (19) · Italy (16) · Spain (16) · United Kingdom (13) · Canada (12) · China (12) · Australia (11) · Germany (11) · Poland (8) · Belgium (7) · Netherlands (7) · Sweden (6) · Ireland (4) · Japan (4)
Paul Szabolcs, MD (2) · Aglaia Vignoli, Professor, MD (1) · Agni Pantou, M.D (1) · Alexander C Conley, Ph.D. (1) · Amish Jain, MD PhD (1) · Amy Xu, MD, PhD (1) · Antonio Gonzalez, MD, PHD (1) · Caroline Ozment, MD (1) · Chelsea Shope, MSCR (1)
PMID 41348481, PMID 41385299, PMID 28652319, PMID 28782106, PMID 30240774, PMID 30612112, PMID 30980684, PMID 31236308, PMID 31734224, PMID 31910860, PMID 32634238, PMID 32750127, PMID 33159275, PMID 34524406, PMID 35234826, PMID 35622074, PMID 35945547, PMID 36044195, PMID 36048943, PMID 36271467, PMID 37423005, PMID 37717734, PMID 37979797, PMID 38390569, PMID 38724717, PMID 39638596, PMID 39806603, PMID 40041314, PMID 40938675, PMID 41124218, PMID 41224305, PMID 41491634, PMID 41671463, PMID 41763744, PMID 42384439, PMID 42660999
2023 (6), 2025 (4), 2015 (1), 5UH3HL148693 (1), R01CA238783 (1), R01DK138915 (1), R01EY024590 (1), R61AR084210 (1), U10CA180886 (1)