620 completed, 157 terminated, 121 recruiting, 112 unknown. 1172 Phase 2, 241 Phase 1, 119 Phase 3.
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scAAV1.tMCK.NTF3 for Treatment of CMT1A scAAV1.tMCK.NTF3 - Charcot-Marie-Tooth Neuropathy Type 1A | Phase 1 / Phase 2 | Withdrawn | Nationwide Children's Hospital | 2027-04-01 | 2026-07-29 | |
| A Study to Assess Safety, Tolerability, Pharmacokinetics, and Efficacy of S247240 in Adult Male Participants With Fragile X Syndrome S247240 Low dose, S247240 Middle dose, S247240 High dose - Fragile X Syndrome (FXS) | Phase 2 | Not yet recruiting | Institut de Recherches Internationales Servier (I.R.I.S.) | 100 | 2027-01-25 | 2026-11-12 |
| 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 |
| Mirdametinib to Reduce the Size of Large/Giant Congenital Melanocytic Nevi in Children, Adolescents and Young Adults Mirdametinib - LGCMN, Large and Giant Congenital Melanocytic Nevi | Phase 2 | Not yet recruiting | National Cancer Institute (NCI) | 15 | 2027-01-04 | 2026-10-29 |
| 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 |
| Aspirin and PAClitaxel in Head & Neck Squamous Cell Carcinoma Aspirin, Paclitaxel - Head and Neck (HNSCC), Head and Neck Squamous Cell Carcinoma (HNSCC) - Recurrent/Metastatic (R/M) | Phase 2 | Not yet recruiting | Washington University School of Medicine | 40 | 2026-12-31 | 2026-10-28 |
| 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 |
| Filsuvez in Moderate-to-Severe Epidermolysis Bullosa Simplex Filsuvez - Epidermolysis Bullosa Simplex | Phase 2 | Not yet recruiting | Stanford University | 10 | 2026-12-15 | 2026-11-05 |
| Safety, Tolerability, and Efficacy of Oral KM-023 in Adult Patients With Pachyonychia Congenita (pEDD-PC) KM-023 - Pachyonychia Congenita | Phase 2 | Not yet recruiting | Orvida Pharma (formerly Kamari Pharma) | 10 | 2026-12-01 | 2026-10-26 |
| 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 |
| Efficacy, Safety, Tolerability, and Pharmacokinetics of NBIP-01435 in Adult Participants With Classic Congenital Adrenal Hyperplasia (CAH) NBIP-01435 - Congenital Adrenal Hyperplasia | Phase 2 | Not yet recruiting | Neurocrine Biosciences | 36 | 2026-12-01 | 2026-09-30 |
| Inhibition of Aggressive Behavior in Participants With Fragile X Syndrome SRX246, Placebo - Aggressive Behavior in Fragile X Syndome | Phase 2 | Not yet recruiting | Azevan Pharmaceuticals | 80 | 2026-12-01 | 2026-10-30 |
| Use of N-Acetylcysteine in the Treatment of Repetitive and Self-Injurious Behaviors in Cornelia de Lange Syndrome N-acetyl cysteine, Placebo - Cornelia de Lange Syndrome | Phase 2 | Not yet recruiting | Johns Hopkins University | 10 | 2026-11-01 | 2026-08-14 |
| 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 |
| Study to Evaluate the Long-Term Safety of Ultevursen in Participants With Retinitis Pigmentosa (RP) Due to Mutations in Exon 13 of the USH2A Gene No intervention, will not receive any active study intervention, Intravitreal Injection of Ultevursen - Retinitis Pigmentosa (RP), Usher Syndrome Type 2 | Phase 2 | Not yet recruiting | Laboratoires Thea | 81 | 2026-10-05 | 2026-09-01 |
| An Extension Trial of Asedebart in Participants With Congenital Adrenal Hyperplasia Asedebart - Adrenal Hyperplasia, Congenital | Phase 2 | Not yet recruiting | H. Lundbeck A/S | 45 | 2026-10-01 | 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 |
| An Open-Label Phase II Feasibility Study for the Use of Ublituximab in Adults With Down Syndrome Regression Disorder Ublituximab - Down Syndrome Regression Disorder (DSRD), Down Syndrome (Trisomy 21) | Phase 2 | Not yet recruiting | Jonathan Santoro | 20 | 2026-10-01 | 2026-09-23 |
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PMID 39356039, PMID 40938675, PMID 41385299, PMID 18035553, PMID 18424759, PMID 18557726, PMID 19066739, PMID 20236866, PMID 32499241, PMID 42002216, PMID 17284531, PMID 21903984, PMID 22065264, PMID 24327518, PMID 26764156, PMID 26855682, PMID 27424289, PMID 28672195, PMID 29383130, PMID 29846250, PMID 31101621, PMID 31215818, PMID 31533931, PMID 31541747, PMID 31831767, PMID 31882719, PMID 31894292, PMID 33159213, PMID 33395098, PMID 34146101, PMID 34524406, PMID 34783716, PMID 35234826, PMID 36519620, PMID 37250503, PMID 37979797, PMID 38724717, PMID 38837240, PMID 41348481, PMID 41491634, PMID 12473512, PMID 12702512, PMID 14605787, PMID 14662594, PMID 15107815, PMID 15701582, PMID 16219273, PMID 16322159, PMID 16899778, PMID 17146105
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