Congenital, Hereditary, and Neonatal Diseases and Abnormalities

281 trials 114 recruiting

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Phase 1b Study of ION356 to Evaluate the Safety, Pharmacokinetics, and Pharmacodynamics in Patients with Pelizaeus-Merzbacher Disease Recruiting

2022-502432-39-00 Pelizaeus-Merzbacher Disease 1 2024-04-10
An Open-Label Extension for Subjects in Studies HGT-HIT-046 and SHP609-302 Evaluating Long-Term Safety of Intrathecal Idursulfase-IT Adminis… Recruiting

2023-504127-90-00 Hunter Syndrome and Cognitive Impairment 5 2024-04-08
Innovative Imaging and Cognitive BIOmarkers to Predict Huntington's Disease Progression Recruiting

2024-516022-63-00 Patients with symptomatic and pre-symptomatic Huntingto 5 2024-03-21
GLYCOGEN RESPONSE TO ENZYME REPLACEMENT THERAPY IN POMPE DISEASE Recruiting

2023-508000-37-01 Pompe Disease 6 2024-02-13
Treatment of difficult-to-control epilepsy associated with tuberous sclerosis complex Recruiting

2024-520171-27-00 Refractory epilepsy in tuberous sclerosis complex 5 2023-12-18
Long-term neuropsychologic outcome of pre-emptive mTOR inhibitor treatment in children with tuberous sclerosis complex (TSC) under 4 months … Recruiting

2022-502332-39-00 Tuberous sclerosis complex (TSC) 4 2023-11-15
Nuwiq for Perioperative management Of patients With haemophilia A on Emicizumab Regular prophylaxis study (NuPOWER) Recruiting

2022-502060-21-00 Haemophilia A 6 2023-10-19
A Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics, and Efficacy of NXT007 in Persons with Severe or Moderate … Recruiting

2023-503906-35-00 Severe or Moderate Hemophilia A with or without factor 9 2023-10-11
Long-Term Follow-up: Phase I/II clinical study to evaluate the safety and efficacy of the infusion of RP-L102 Recruiting

2022-501082-52-00 Fanconi anemia subtype A (FA-A) 9 2023-03-01
Assessing the efficacy of Bumetanide for the improvement of cognitive functions in children and adolescents with Down syndrome Recruiting

2024-519342-71-00 Down Syndrome 4 2023-01-11
An extension study to evaluate the long-term efficacy and safety of odevixibat (A4250) in children with biliary atresia (BOLD-EXT) Recruiting

2022-501090-39-00 Biliary Atresia 5 2022-12-14
A Phase 3b Study to Evaluate Efficacy and Safety of a Single Dose of Autologous CRISPR Cas9 Modified CD34+ Human Hematopoietic Stem and Prog… Recruiting

2024-514641-12-00 Transfusion-dependent β-thalassemia (TDT) 5 2022-10-26
A phase IIa, randomized, placebo-controlled, double-blind, cross-over study to evaluate safety and efficacy of subcutaneous administration o… Recruiting

2023-510376-31-00 Cystic fibrosis 4 2022-10-05
A Phase 3 Study to Evaluate the Safety and Efficacy of a Single Dose of CTX001 in Pediatric Subjects With Severe Sickle Cell Disease Recruiting

2024-513978-22-00 Severe sickle cell disease (SCD) 5 2022-07-20
Effects of N-Acetyl-L-Leucine on Niemann-Pick disease type C (NPC): A Phase III, randomized, placebo-controlled, double-blind, crossover stu… Recruiting

2023-510278-14-00 Niemann-Pick disease type C 5 2022-06-16
Study to Assess the Long-Term Safety and Efficacy of ION-682884 in Patients with Hereditary Transthyretin-Mediated Amyloid Polyneuropathy Recruiting

2024-511201-32-00 Hereditary Transthyretin-Mediated Amyloid Polyneuropath 5 2022-06-13
A Phase 3 Study to Evaluate the Safety and Efficacy of a Single Dose of CTX001 in Pediatric Subjects With Transfusion-Dependent β-Thalassemi… Recruiting

2024-513349-35-00 Transfusion-Dependent-Thalassemia 5 2022-05-16
EARLY treatment with Candesartan vs Placebo in asymptomatic GENEtic carriers of Dilated Cardiomyopathy (EARLY-GENE trial) Recruiting

2023-507029-40-00 Genetic carriers of dilated cardiomyopathy causing vari 5 2022-05-09
An Open-Label Study of AKCEA-APOCIII-LRX Administered Subcutaneously to Patients With Familial Chylomicronemia Syndrome (FCS) Previously Tre… Recruiting

2023-508815-22-00 Familial Chylomicronemia Syndrome 5 2022-02-25
An open-label Phase 2 trial to investigate efficacy and safety of intraamniotic administrations of ER004 to male subjects with X-linked hypo… Recruiting

2024-512632-30-00 X-linked hypohidrotic ectodermal dysplasia (XLHED) 4 2021-12-02
Randomised Placebo-Controlled Trial of Early Targeted Treatment of Patent Ductus Arteriosus with Paracetamol in Extremely Low Birth Weight I… Recruiting

2024-516846-20-00 Patent Ductus Arteriosus 5 2021-09-26
Mesalamine administration to prevent development of colorectal cancer in Lynch syndrome Recruiting

2024-514765-19-01 Lynch syndrome, which is increasing the risk of develop 4 2021-08-12
A clinical study in 3 parts with a microdystrophin (called GNT0004), a new gene therapy in boys with Duchenne disease who can still walk. Th… Recruiting

2023-505187-11-00 Duchenne Muscular Dystrophy 7 2021-03-01
A Long-term Follow-up Study of Patients with MPS IIIA from Gene Therapy Clinical Trials Involving the Administration of ABO-102 (scAAV9.U1a.… Recruiting

2023-510392-66-00 Mucopolysaccharidosis type IIIA 5 2020-11-23