Congenital, Hereditary, and Neonatal Diseases and Abnormalities

281 trials 114 recruiting

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A Study to Evaluate the Safety, Efficacy, Pharmacokinetics, Pharmacodynamics, and Immunogenicity of cipaglucosidase alfa/miglustat in both E… Recruiting

2022-501095-25-01 Pediatric Subjects with Infantile-onset Pompe Disease A 5 2024-11-04
The ENERGY 2 Study: A study to investigate if study drug INZ-701 increases survival in infants with ENPP1 Deficiency by preventing heart dys… Recruiting

2024-512991-36-00 Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENP 5 2024-10-24
A Study to Learn About the Safety and Effects of the Study Drug PRX-102 in Children and Adolescents with Fabry Disease Recruiting

2022-503128-29-00 Fabry's disease 10 2024-10-08
Efficacy and Safety of Patidegib Gel 2% for Preventing Basal Cell Carcinomas on the Face of Adults With Gorlin Syndrome Recruiting

2023-507528-21-00 Gorlin Syndrome 5 2024-05-23
Prospective, multicenter, randomized, double-blind, parallel group, placebo-controlled, efficacy and safety phase 3 study of an intravenous … Recruiting

2023-503507-29-00 acute hereditary angioedema attacks 5 2024-04-30
Phase 3 Study of ALXN1850 in Treatment-Naïve Pediatric Participants with HPP Recruiting

2023-505675-73-00 hypophosphatasia 5 2024-04-26
Open-Label Extension of EDG-5506 in Participants with Becker Muscular Dystrophy Recruiting

2023-506231-15-00 Becker Muscular Dystrophy 4 2024-02-22
Nuwiq Dosing and outcomes In the ManagEment of women/girls with haemophilia A Needing FVIII treatment for Surgery – an International, Open-l… Recruiting

2022-502061-17-00 Haemophilia A 6 2023-12-15
A Phase 3b Multicenter Open-label Trial of the Safety, Tolerability, and Efficacy of Tolvaptan in Infants and Children 28 days to less than … Recruiting

2023-508218-41-00 Autosomal Recessive Polycystic Kidney Disease 5 2023-08-17
Phase III clinical trial of ABCB5+ MSCs for the treatment of EB Recruiting

2022-500266-10-00 Recessive Dystrophic Epidermolysis Bullosa(RDEB) and Ju 5 2023-06-13
Efficacy of Atenativ in Patients With Congenital Antithrombin Deficiency Undergoing Surgery or Delivery Recruiting

2024-515830-34-00 Congenital antithrombin deficiency 5 2023-02-14
A Phase 1/2/3 Study of UX701 Gene Therapy in Adults with Wilson Disease”. Recruiting

2022-502873-40-00 Wilson disease 7 2022-06-13
A study to evaluate the effect of venglustat tablets on left ventricular mass index in male and female adult participants with Fabry disease Recruiting

2023-509715-91-00 Fabry’s disease 5 2022-05-06
Phase 1/2 dose-escalation study to evaluate the safety, tolerability, and efficacy of a single intravenous infusion of SPK-3006 in adults wi… Recruiting

2023-509303-32-00 Pompe Disease (also known as glycogen storage disease t 7 2021-10-19
CeRebrUm and CardIac protection with ALlopurinol in Neonates with Critical Congenital Heart Disease requiring Cardiac Surgery with Cardiopul… Recruiting

2024-513041-37-00 Brain injury in neonates with critical congenital heart 5 2020-02-14
Caffeine administration for preterms in nociception outcomes Recruiting

2025-523475-33-00 Primary apnea in preterms newborns 6 2026-05-18
A study to investigate the safety, tolerability, pharmacokinetics, immunogenicity and pharmacodynamics of a single subcutaneous dose of GSK4… Recruiting

2025-525073-37-00 Autosomal Dominant Polycystic Kidney Disease 3 2026-05-12
REVEAL: A Phase 3 Study of ION582 in Angelman Syndrome Recruiting

2024-519711-33-01 Angelman syndrome 5 2026-04-17
Donidalorsen Treatment in Children with Hereditary Angioedema Recruiting

2025-523499-22-00 Hereditary Angioedema (HAE) 5 2026-04-01
TRITON-PN: A Phase 3 Study to Evaluate the Efficacy and Safety of Nucresiran in Patients with Hereditary Transthyretin Amyloidosis with Poly… Recruiting

2025-522544-40-00 Hereditary transthyretin-mediated amyloidosis with poly 5 2026-03-27
Pharmacokinetics, Efficacy and Safety of Twice Daily Dosing Regimen of Hydroxycarbamide Dispersible Tablets in Children with Sickle Cell Dis… Recruiting

2024-513750-30-00 Sickle Cell Disease 4 2026-03-25
A Safety and Efficacy Study of GTX-102 in Subjects with Deletion- or Nondeletion-type Angelman Syndrome (Aurora) Recruiting

2024-519393-39-00 Angelman Syndrome 4 2026-02-27
Multi-Center, Open Label Gene Therapy Study of RP-A501 in Male Patients with Danon Disease Recruiting

2023-506480-34-00 Danon Disease 4 2026-02-26
A Positron Emission Tomography (PET) study to examine the properties of a novel radioligand's suitability for imaging mutant huntingtin Recruiting

2024-515786-34-02 Huntington's disease 3 2026-02-24