21 active not recruiting. 21 Phase 1, 14 Phase 2.
| Phase | Trials | Status |
|---|---|---|
| Phase 1 | 21 | Active not recruiting 21 |
| Phase 2 | 14 | Active not recruiting 14 |
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 |
|---|---|---|---|---|---|---|
| Trametinib Treatment for Complicated Vascular Anomalies Trametinib tablet - Vascular Anomalies | Phase 1 / Phase 2 | Active not recruiting | West China Hospital | 20 | 2025-07-07 | 2025-07-22 |
| Treatment of Charcot-Marie-Tooth Disease, Axonal, Type 2S (CMT2S) in an Individual Patient VCA-894A - Charcot Marie Tooth Disease (CMT), Neuromuscular Diseases (NMD) | Phase 1 / Phase 2 | Active not recruiting | Vanda Pharmaceuticals | 1 | 2025-05-13 | 2026-08-19 |
| A Study to Evaluate the Safety, Tolerability, and Effects on Blood and Urine Markers of Single Ascending Dose of GSK4771261 in Healthy Participants and Participants With Autosomal Dominant Polycystic Kidney Disease GSK4771261, Placebo matching GSK4771261 - Kidney Disease | Phase 1 | Active not recruiting | GlaxoSmithKline | 86 | 2024-12-11 | 2026-07-30 |
| A Study to Evaluate ALN-6400 in Healthy Volunteers and Patients With Hereditary Hemorrhagic Telangiectasia (HHT) ALN-6400, Placebo - Hereditary Hemorrhagic Telangiectasia | Phase 1 / Phase 2 | Active not recruiting | Alnylam Pharmaceuticals | 89 | 2024-11-07 | 2026-10-15 |
| Astroscape: A Study of Radiprodil on Safety, Tolerability, Pharmacokinetics, and Effect on Seizures and Behavioral Symptoms in Patients With TSC or FCD Type II Radiprodil - Tuberous Sclerosis Complex, Focal Cortical Dysplasia | Phase 1 / Phase 2 | Active not recruiting | GRIN Therapeutics, Inc. | 30 | 2024-07-10 | 2026-04-01 |
| Pilot Study of ELK-003 Eye Drops for Treating Ocular Manifestations of Epidermolysis Bullosa ELK-003 (Standarized Amniotic Fluid Secretome Eye Drops) - Junctional Epidermolysis Bullosa, Epidermolysis Bullosa (EB) | Phase 1 | Active not recruiting | Fundación DEBRA Chile, Niños Piel de Cristal | 20 | 2024-05-07 | 2025-12-31 |
| A Study of RM-718 in Healthy Subjects and Patients With MC4R Pathway Impairment Part A: RM-718 or placebo (matched to specific RM-718 dose cohort), Part B: RM-718 or placebo (matched to specific RM-718 dose cohort), Part C: RM-718 - Hypothalamic Obesity, Prader-Willi Syndrome | Phase 1 / Phase 2 | Active not recruiting | Rhythm Pharmaceuticals, Inc. | 111 | 2024-03-05 | 2026-10-09 |
| Gene Therapy for ACM Due to a PKP2 Pathogenic Variant LX2020 - Arrhythmogenic Cardiomyopathy, PKP2-ACM | Phase 1 / Phase 2 | Active not recruiting | Lexeo Therapeutics | 10 | 2024-02-29 | 2025-11-12 |
| Safety and Anti-Tumor Activity of TYRA-200 in Advanced Cholangiocarcinoma With Activating FGFR2 Gene Alterations Phase 1 Part A - dose escalation TYRA-200 taken once daily by mouth in 28-day cycles, Phase 1 Part B - dose expansion TYRA-200 taken once daily by mouth in 28-day cycles - Locally Advanced Cholangiocarcinoma, Intrahepatic Cholangiocarcinoma | Phase 1 | Active not recruiting | Tyra Biosciences, Inc | 40 | 2023-11-22 | 2026-10-14 |
| Assess Safety and Efficacy of VAD044 in HHT Patients VAD044 Part I, VAD044 Part II - Hereditary Hemorrhagic Telangiectasia (HHT) | Phase 1 / Phase 2 | Active not recruiting | Vaderis Therapeutics AG | 75 | 2022-07-18 | 2026-03-17 |
| A Phase I Study, Evaluating the Safety, Pharmacokinetics and Efficacy of PRJ1-3024 in Subjects With Advanced Solid Tumors PRJ1-3024 - Advanced Solid Tumor, Advanced Solid Malignancies | Phase 1 | Active not recruiting | Zhuhai Yufan Biotechnologies Co., Ltd | 39 | 2022-03-31 | 2025-12-15 |
| HALOS: A Safety, Tolerability, Pharmacokinetics and Pharmacodynamics Study of Multiple Ascending Doses of ION582 in Participants With Angelman Syndrome ION582 - Angelman Syndrome | Phase 1 / Phase 2 | Active not recruiting | Ionis Pharmaceuticals, Inc. | 71 | 2021-12-22 | 2026-08-20 |
| A Study of NDI 1150-101 in Patients With Solid Tumors NDI-101150, Pembrolizumab - Solid Tumor, Renal Cell Carcinoma (Kidney Cancer) | Phase 1 / Phase 2 | Active not recruiting | Nimbus Saturn, Inc. | 106 | 2021-11-05 | 2024-11-25 |
| Feasibility of [11C]Acetate-PET in LAM and TSC [11C]acetate - Lymphangioleiomyomatosis, Tuberous Sclerosis Complex | Phase 1 / Phase 2 | Active not recruiting | Brigham and Women's Hospital | 7 | 2021-08-30 | 2026-01-21 |
| A Study of Gene Therapy for Classic Congenital Adrenal Hyperplasia (CAH) AAV BBP-631 - Congenital Adrenal Hyperplasia | Phase 1 / Phase 2 | Active not recruiting | Adrenas Therapeutics Inc | 8 | 2021-07-01 | 2025-12-23 |
| Intramyocardial Injection of Autologous UCB-MNC During Fontan Surgery for SRV Dependent CHD Autologous mononuclear cells - Congenital Heart Disease, SRV Dependent | Phase 1 | Active not recruiting | Timothy J Nelson, MD, PhD | 30 | 2021-06-01 | 2025-06-27 |
| Mesenchymal Stromal Cells for Infants With Congenital Heart Disease (MedCaP) BM-MSC - Congenital Heart Disease (CHD) | Phase 1 | Active not recruiting | Catherine Bollard | 17 | 2020-07-29 | 2026-06-02 |
| A Single Arm, Phase Ib/II Trial of Single Agent Pacritinib in Patients With 1q21.3 Amplified Solid Tumors Enriching for Interleukin-1 Receptor-associated Kinase 1 Pathway Activation (PAIR) Pacritinib - Breast Cancer | Phase 1 / Phase 2 | Active not recruiting | National University Hospital, Singapore | 74 | 2020-07-13 | 2025-09-25 |
| Ex Vivo Gene Therapy Clinical Trial for RDEB Using Genetically Corrected Autologous Skin Equivalent Grafts COL7A1-SIN retroviral vector engineered autologous tissue-engineered skin - Epidermolysis Bullosa Dystrophica, Recessive | Phase 1 / Phase 2 | Active not recruiting | Institut National de la Santé Et de la Recherche Médicale, France | 3 | 2020-01-10 | 2026-02-12 |
| Patch vs. No Patch Fetoscopic Meningomyelocele Repair Study fetoscopy - Neural Tube Defects | Phase 1 | Active not recruiting | Baylor College of Medicine | 38 | 2018-12-18 | 2026-10-01 |
Showing 20 of 21. Sign in to see all of them.
Hereditary Sensory and Autonomic Neuropathies (3) · Epidermolysis Bullosa Dystrophica (2) · Heart Defects, Congenital (2) · Telangiectasia, Hereditary Hemorrhagic (2) · Tuberous Sclerosis (2) · Acrocephalosyndactylia (1) · Adenocarcinoma (1) · Adrenal Hyperplasia, Congenital (1) · Angelman Syndrome (1) · Arrhythmogenic Right Ventricular Dysplasia (1) · Arteriovenous Malformations (1) · Breast Neoplasms (1) · Carcinoma, Non-Small-Cell Lung (1) · Carcinoma, Renal Cell (1) · Cardiomyopathies (1)
Congenital, Hereditary, and Neonatal Diseases and Abnormalities (21) · Genetic Diseases, Inborn (12) · Nervous System Diseases (10) · Nervous System Malformations (7) · Cardiovascular Abnormalities (6) · Cardiovascular Diseases (6) · Heredodegenerative Disorders, Nervous System (6) · Neoplasms (6) · Neurodegenerative Diseases (6) · Female Urogenital Diseases (4) · Female Urogenital Diseases and Pregnancy Complications (4) · Hemic and Lymphatic Diseases (4) · Male Urogenital Diseases (4) · Neoplasms by Histologic Type (4)
11-(2-pyrrolidin-1-ylethoxy)-14,19-dioxa-5,7,26-triazatetracyclo(19.3.1.1(2,6).1(8,12))heptacosa-1(25),2(26),3,5,8,10,12(27),16,21,23-decaene (1) · Fetoscopy (1) · Melphalan (1) · Radiotherapy, Intensity-Modulated (1) · carbon-11 acetate (1) · fludarabine phosphate (1) · pembrolizumab (1) · radiprodil (1) · trametinib (1)
Adrenas Therapeutics Inc (1) · Alnylam Pharmaceuticals (1) · Baylor College of Medicine (1) · Brigham and Women's Hospital (1) · Catherine Bollard (1) · City of Hope Medical Center (1) · Fundación DEBRA Chile, Niños Piel de Cristal (1) · GRIN Therapeutics, Inc. (1) · GlaxoSmithKline (1) · Institut National de la Santé Et de la Recherche Médicale, France (1) · Ionis Pharmaceuticals, Inc. (1) · Lexeo Therapeutics (1) · National University Hospital, Singapore (1) · Nimbus Saturn, Inc. (1) · Rhythm Pharmaceuticals, Inc. (1)
United States (16) · France (5) · Spain (4) · Australia (3) · Belgium (3) · Canada (3) · Italy (3) · Netherlands (3) · United Kingdom (3) · Germany (2) · Chile (1) · China (1) · Israel (1) · Poland (1) · Singapore (1)
Anita Scheuber, MD (1) · Benjamin Peeler, MD (1) · Carmen P Priolo, MD PhD (1) · Damien Picard (1) · David M Overman (1) · David Meeker (1) · Doug Warner (1) · Harold M Burkhart (1) · James Jaggers, MD (1) · James Tweddell, M.D. (1) · Jason Maynes, MD (1) · John D Cleveland, MD (1) · Joline Si Jing Lim (1) · Joseph Dearani (1)
PMID 12473512, PMID 24252784, PMID 30542204, PMID 30627694, PMID 32894644, PMID 34162982, PMID 37264205, PMID 39486058, PMID 40102890, PMID 41297007, PMID 42097144
2016 (1), 2023 (1), 2025 (1), P30CA033572 (1)