Congenital, Hereditary, and Neonatal Diseases and Abnormalities

281 trials 114 recruiting

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Evaluate the Safety, Efficacy, and Pharmacokinetics of CRN04894 in Participants with Congenital Adrenal Hyperplasia Ended

2023-503488-40-00 CONGENITAL ADRENAL HYPERPLASIA 4 2023-11-27
A Phase 2 Safety, Tolerability, and Proof-of-Concept Study of VGL101 in Patients With Adult-Onset Leukoencephalopathy With Axonal Spheroids … Ended

2022-502505-15-00 Leukoencephalopathy 10 2023-11-09
Safety, tolerability, pharmacokinetics, pharmacodynamics, and efficacy of SAR442501 in pediatric participants with Achondroplasia Ended

2023-503677-37-00 Osteochondrodysplasia 4 2023-10-24
An early-stage clinical study of a potential new medicine for patients with Netherton Syndrome Ended

2022-502853-32-00 Netherton's Syndrome 9 2023-08-18
A research study looking at how safe it is to switch from emicizumab to Mim8 in people with haemophilia A (FRONTIER 5). Ended

2022-502450-13-00 Haemophilia A with or without coagulation factor VIII ( 5 2023-07-21
Safety and tolerability of CTH120, first-in-human phase I study encompassing three parts: Single and Multiple Ascending doses and potential … Ended

2022-502209-13-01 Fragile X syndrome 1 2023-06-23
Effects and Safety of Test drug ZYN002, applied as a gel onto the skin of children, adolescents and young adults with a certain hereditary d… Ended

2024-513888-99-00 Fragile X syndrome (FXS) 5 2023-06-08
A study to test whether spesolimab helps people with skin disease called Netherton syndrome Ended

2022-501104-10-00 Netherton syndrome (NS) 10 2023-06-06
A Phase 2a Safety, Tolerability, and Pharmacodynamic Study of OMT-28 in PMD patients with myopathy and/or cardiomyopathy and inflammation (P… Ended

2023-508541-41-00 Primary Mitochondrial Disease 4 2023-05-22
A Study of Olezarsen Administered Subcutaneously to Participants With Severe Hypertriglyceridemia Ended

2022-501420-20-00 Severe hypertryglyceridemia 5 2023-05-17
Pilot trial of single dose ilofotase alfa in hypophosphatasia Ended

2023-503186-35-00 Hypophosphatasia 3 2023-05-03
A Phase 2, Open-Label, Adaptive, Dose-Ranging Study with Long-Term Extension to Evaluate the Safety, Tolerability, Efficacy, and Pharmacokin… Ended

2023-507328-22-00 Tenosynovial Giant Cell Tumor 4 2022-12-20
A proof of concept study with NVD-003, an autologous osteogenic bone graft, in the treatment of congenital pseudarthrosis of the tibia in pe… Ended

2024-515478-29-00 Congenital pseudarthrosis of the tibia 9 2022-11-28
Safety and efficacy of allogenic adipose tissue-derived mesenchymal stromal cells in patients with epidermolysis bullosa: Clinical trial pha… Ended

2024-516614-37-00 Epidermolysis bullosa congenita 9 2022-10-12
Clinical Study for Treatment-naïve IOPD Babies to Evaluate Efficacy and Safety of ERT With Avalglucosidase Alfa Ended

2024-513859-33-00 Glycogen storage disease type II 5 2022-08-26
A Phase 2a, Randomized, Placebo-Controlled, Dose-Ranging Study to Evaluate the Safety and Efficacy of PTC518 in Subjects With Huntington’s D… Ended

2023-509835-26-00 Huntington’s Disease 4 2022-07-06
A Phase I/II Study to Assess the Safety and Tolerability of ST-920, an AAV2/6 Human Alpha Galactosidase A Gene Therapy, in Subjects with Fab… Ended

2024-512695-34-00 Fabry Disease (X-linked lysosomal storage disease). 7 2022-06-28
A Study of Olezarsen (ISIS 678354) Administered to Participants With Severe Hypertriglyceridemia. Ended

2024-510696-38-00 Severe Hypertriglyceridemia. 5 2022-03-08
A Study to evaluate safety and tolerability of olipudase alfa in pediatric and adult participants with Acid sphingomyelinase deficiency (ASM… Ended

2024-515304-39-00 Niemann-Pick disease 4 2021-11-18
A Phase 2 Study to assess the efficacy and safety of 2 dosage regimens of oral fidrisertib (IPN60130) for the treatment of fibrodysplasia os… Ended

2024-511469-13-00 Fibrodysplasia Ossificans Progressiva 4 2021-10-19
AUDIOWOLF: A phase II, open-label, efficacy study of daily administration of sodium valproate in patients clinically affected by Wolfram syn… Ended

2024-514896-17-00 Wolfram syndrom 4 2021-10-08
Congenital myopathy intervention study Ended

2024-512027-36-00 Congenital myopathy 6 2021-09-27
NTLA-2001 in Patients with Hereditary Transthyretin Amyloidosis with Polyneuropathy (ATTRv-PN) Ended

2024-511170-69-00 Hereditary Transthyretin Amyloidosis with Polyneuropath 1 2021-08-17
A Study to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics of DNL310 in Pediatric Participants with Hunter Syndrome Ended

2023-508619-22-00 Hunter Syndrome (Mucopolysaccharidosis Type II [MPS II] 7 2021-06-22