Congenital, Hereditary, and Neonatal Diseases and Abnormalities

281 trials 114 recruiting

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Metformin versus Tolvaptan in adults with Autosomal Dominant Polycystic Kidney Disease (ADPKD): a phase 3a, independent, multi-centre, 2 par… Recruiting

2024-517864-49-01 Autosomal Dominant Polycystic Kidney Disease 5 2020-09-08
Long-Term Follow-up: Phase I/II clinical study to evaluate the safety and efficacy of the infusion of autologous CD34+ cells transduced with… Recruiting

2024-511523-33-00 Fanconi anemia (subtype A) 9 2020-05-28
A Long-term Follow-up Study of Subjects with β-Thalassemia or Sickle Cell Disease Treated with Autologous CRISPR-Cas9 Modified Hematopoietic… Recruiting

2024-512654-19-00 Sickle Cell Disease 5 2020-03-06
Neonatal hypoxic ischemic encephalopathy : safety and feasibility study of a curative treatment with autologous cord blood stem cells (NEOST… Recruiting

2024-516421-30-00 Neonatal hypoxic-ischaemic encephalopathy 4 2020-02-05
Phase 2a Study of Luspatercept in Pediatric Participants With Beta (β)-Thalassemia Recruiting

2022-502499-22-00 Beta (β) Thalassemia 4 2019-10-15
Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIA Recruiting

2023-510032-37-00 Mucopolysaccharidosis type IIIA 7 2017-04-18
An open-label study to investigate ECUR-506 in male children less than 9 months of age with neonatal onset OTC deficiency Ended

2023-506180-34-01 Ornithine Transcarbamylase Deficiency (OTC) 7 2026-04-10
Safety Study in Subjects ≥ 12 Years of Age With Hereditary Angioedema Switching to Garadacimab Ended

2024-517757-27-00 Hereditary Angioedema (HAE) 6 2026-01-29
A Phase 1/2 Study to Evaluate ALN-6400 in Adult Healthy Volunteers and Adult Patients with HHT Ended

2025-522510-23-00 Hereditary Hemorrhagic Telangiectasia (HHT) 9 2025-12-15
Study on efficacy of nintedanib for treatment of epistaxis in hereditary haemorrhagic telangiectasia (HHT) patients - EPISTOP Ended

2024-518886-89-00 Hereditary haemorrhagic telangiectasia 4 2025-06-16
Assessing the safety, tolerability, and effectiveness of crofelemer in people with the intestinal disease Microvillus Inclusion Disease (MVI… Ended

2024-512845-18-00 Microvillous Inclusion Disease (MVID) 4 2025-06-03
A study to investigate the effect and safety of BW-20805 in adult participants with hereditary angioedema Ended

2024-518207-22-00 Hereditary Angioedema 4 2025-05-15
Long-Term Follow-up of Fabry Disease Subjects who were Treated with ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy Ended

2024-512700-18-00 Fabry Disease (X-linked lysosomal storage disease). 4 2025-04-03
A Phase 3 Study to Evaluate NTLA-2002 in Participants With Hereditary Angioedema (HAE) Ended

2024-515741-42-00 hereditary angioedema due to C1 esterase inhibitor defi 5 2025-03-28
Long-term, open-label study of SAR447537 (INBRX-101) in adults with alpha-1 antitrypsin deficiency emphysema Ended

2023-508137-14-00 Alpha-1 Antitrypsin Deficiency (AATD) Emphysema 4 2025-03-11
Randomized Double-Blind Placebo-Controlled Phase 3 Study to Evaluate the Efficacy and Safety of Maralixibat in the Treatment of Participants… Ended

2024-511287-85-00 Cholestatic Pruritus 5 2025-02-17
A Long-term trial to learn about a study drug (STAR-0215) in adults with hereditary angioedema Ended

2023-506540-16-01 Hereditary Angioedema 4 2025-01-20
A Phase 1b/2a, open-label single ascending doses and multiple ascending doses study in participants with Pi*ZZ AATD Ended

2024-511981-36-00 Alpha-1 antitrypsin deficiency (AATD) 9 2025-01-06
A study to investigate the course of synovial hypertrophy in patients with haemophilia A on efanesoctocog alfa prophylaxis Ended

2024-512066-33-00 Haemophilia A 6 2024-12-19
A trial to evaluate the safety and effectiveness of the investigational drug zagociguat for the treatment of MELAS Ended

2024-515389-15-00 Mitochondrial encephalomyopathy, lactic acidosis, and s 4 2024-12-13
OPEN-LABEL EXTENSION STUDY TO ASSESS THE SAFETY AND LONG-TERM EFFECTIVENESS OF ORALLY ADMINISTERED EFAVIRENZ IN PATIENTS DIAGNOSED WITH ADUL… Ended

2023-505832-36-01 Type C Niemann-Pick Disease 4 2024-11-07
Double-blind, randomized, placebo-controlled study of Leriglitazone in pediatric Rett Syndrome Ended

2024-514684-26-00 Rett Syndrome 4 2024-10-29
A study to check the effect of satralizumab in children and adolescents living with Duchenne muscular dystrophy, to check if it is safe and … Ended

2024-512383-65-00 Duchenne Muscular Dystrophy (DMD) 4 2024-09-26
A study to investigate the efficacy and safety of OTL-203 in subjects with mucopolysaccharidosis type I, Hurler syndrome (MPS-IH) compared w… Ended

2022-500306-17-00 Mucopolysaccharidosis type I, Hurler Syndrome 5 2024-09-20