Congenital, Hereditary, and Neonatal Diseases and Abnormalities

281 trials 114 recruiting

Filter these 281 trials by phase, country and sponsor.

Open in Search →

Phase 3 Study of ALXN1850 versus Placebo in Adolescent and Adult Participants with HPP who have not previously been treated with Asfotase Al… Ended

2023-505673-32-00 Hypophosphatasia 5 2024-08-05
Treat-CMV Ended

2022-500714-25-01 congenital CMV infection 5 2024-06-19
The ENERGY 3 Study: Evaluation of Efficacy and Safety of INZ-701 in Children With ENPP1 Deficiency Ended

2023-507382-26-00 Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENP 5 2024-05-24
A Multicenter, Long-term, Follow-up Study to Investigate the Safety and Durability of Response Following Dosing of an Adeno-associated Viral… Ended

2024-511172-33-00 Gaucher Disease Type 1 9 2024-05-10
Safety, Tolerability and Efficacy of NPI-001 (AT-001) in Patients with Hereditary Cystatin C Amyloid Angiopathy (HCCAA) Ended

2023-503969-36-01 Hereditary Cystatin C Amyloid Angiopathy (HCCAA) 4 2024-03-26
A Phase 3b Study of BMS-986346 in Lower-risk Myelodysplastic Syndrome Participants Ended

2023-504541-31-00 Myelodysplastic syndrome 5 2024-03-06
A Trial of Lu AG13909 in Participants with Congenital Adrenal Hyperplasia Ended

2023-503711-15-00 Congenital adrenal hyperplasia 7 2024-01-25
A Phase 3, Open-label, Multicenter, Randomized Study to Evaluate the Efficacy and Safety of Romosozumab Compared with Bisphosphonates in Chi… Ended

2023-503294-37-00 Osteogenesis Imperfecta 5 2023-11-20
A phase I/II open label, multicenter study evaluating the feasibility, safety and efficacy of point-of-care manufactured antiBCMA CAR T cell… Ended

2022-500782-27-00 relapsed/refractory Multiple Myeloma 7 2023-11-14
A Phase 2b, Double-Blind, Randomized Extension Study to Evaluate the Long-Term Safety and Efficacy of Votoplam in Participants With Huntingt… Ended

2023-504628-24-00 Huntington's Disease 4 2023-10-31
Phase I/II study of weekly infusions of JR-441 in patients with mucopolysaccharidosis type IIIA Ended

2024-517045-14-00 Mucopolysaccharidosis type IIIA (MPS IIIA) 1 2023-09-26
Long-Term Follow-Up (LTFU) for Gene Therapy of Leukocyte Adhesion Deficiency-I (LAD-I). Phase I/II clinical study to evaluate the safety and… Ended

2022-501086-41-00 Leukocyte Adhesion Deficiency-I (LAD-I) 9 2023-09-15
A study to test a medicine (fitusiran) injected under the skin for preventing bleeding episodes in male adolescent or adult participants wit… Ended

2022-500221-33-01 Hemophilia 5 2023-07-28
Evaluation of Long-Term Safety and Efficacy of Apitegromab in Patients with Spinal Muscular Atrophy (a genetic condition that causes muscle … Ended

2024-511654-42-00 Spinal Muscular Atrophy (SMA) 5 2023-06-28
A research study looking at long-term treatment with Mim8 in people with haemophilia A (FRONTIER 4) Ended

2022-502215-10-00 Haemophilia A (with or without inhibitors) 5 2023-05-04
A clinical study of a virus transferring the gene for human Ornithine Transcarbamylase (OTC) in patients 12 years of age and older with late… Ended

2024-514337-38-00 Late-onset Ornithine transcarbamylase (OTC) deficiency 5 2023-01-24
Long-term follow-up of patients with spinal muscular atrophy Treated with OAV101 IT or OAV101 IV in Clinical Trials Ended

2024-511707-42-00 Spinal Muscular Atrophy 5 2023-01-05
Phase 2 Study of EDG-5506 in Becker Muscular Dystrophy Ended

2022-500090-13-00 Becker Muscular Dystrophy (BMD) 4 2022-12-29
Study to evaluate the efficacy and safety of venglustat in adult and pediatric patients with Gaucher disease Type 3 Ended

2024-514381-39-00 Gaucher's disease type III 5 2022-12-08
An Open-Label, Long Term Safety and Efficacy Study of Donidalorsen in the Prophylactic Treatment of Hereditary Angioedema (HAE) Ended

2023-509201-77-00 Hereditary Angioedema 5 2022-11-02
A safety and pharmacokinetic study of oral berotralstat for HAE attacks in pediatric patients. Ended

2024-511257-22-00 Hereditary Angioedema (HAE) 5 2022-10-13
A study to evaluate the efficacy and safety of treatment with JR-141 Ended

2024-512289-33-00 Mucopolysaccharidosis type II 5 2022-08-24
Avalglucosidase alfa French post-trial access for participants with Pompe disease Ended

2024-514773-22-00 Glycogen storage disease type II 6 2022-07-11
An Open-Label Extension Study of AKCEA-APOCIII-LRX Administered to Patients with Familial Chylomicronemia Syndrome (FCS) Ended

2023-509029-29-00 Familial Chylomicronemia Syndrome (FCS) 5 2022-06-29