Congenital, Hereditary, and Neonatal Diseases and Abnormalities

281 trials 114 recruiting

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Safety, Tolerability and Efficacy of NPI-001 (AT-001) in Patients with Hereditary Cystatin C Amyloid Angiopathy (HCCAA) Not authorised

2023-503969-36-00 Hereditary Cystatin C Amyloid Angiopathy (HCCAA) 4
MOOD - MethOxyflurane analgesia in vasoOcclusive crises of sickle cell Disease Not authorised

2024-518043-38-00 Sickle cell disease 5
Safety and Efficacy of VX-828/Deutivacaftor Combination Therapy With and Without Tezacaftor in Subjects With Cystic Fibrosis Pending

2025-523400-72-00 Cystic fibrosis 4
Effectiveness of CBD on behavioural problems in patients with TSC, FXS and Sanfilippo Pending

2025-520846-31-00 Tuberous Sclerosis Complex (TSC), Sanfilippo syndrome, 5
A Double-blind, Placebo-controlled, Single and Multiple Ascending Dose Phase 1 Study of CMP-CPS-001 in Healthy Volunteers and Participants w… Pending

2025-520882-37-00 Urea cycle disorders (UCD) 1
Monocentric Pilot Trial evaluating the safety and efficacy of Regorafenib in Arterio-Venous Malformations that are refractory to standard ca… Pending

2022-501830-47-01 Arterio-Venous Malformations 4
Double blind, multicenter, randomized, controlled trial of dexmedetomidine vs placebo in premature neonates receiving invasive ventilation Pending

2023-509247-27-00 Neonatal respiratory distress. Pain and discomfort 5
Open-Label, Long-Term, Extension Study of Infigratinib in Children with Hypochondroplasia Pending

2025-523509-13-00 Hypochondroplasia 4
A study of SGX-001 in patients with chronic granulomatous disease caused by p47phox deficiency (p47-CGD) Pending

2025-524423-50-00 Chronic granulomatous disease (CGD) caused by p47phox d 7
Gene Therapy Trial for OTOF-mediated Hearing Loss Pending

2023-505128-76-00 Otoferlin gene-mediated hearing loss 7
A Phase 1 Study of AIR-001 in Adults with AATD. Pending

2025-523558-14-00 Alpha-1 Antitrypsin Deficiency 1
A single arm, open label, multicenter, single-dose, phase 2b clinical study evaluating efficacy and safety of gene therapy using autologous … Pending

2025-522160-32-00 transfusion-dependent beta-thalassemia 4
An Open-label, Multicenter Trial to Assess Safety and Efficacy of a Subretinal Administration of AAVB-039 Pending

2025-522207-15-01 Stargardt Disease (STGD1) 7
A low-intervention prospective-retrospective study to evaluate the pharmacokinetics of elexacaftor/tezacaftor/ivacaftor combination in a Cys… Pending

2024-518785-28-00 Cystic Fibrosis 6
Study of MRM-3379 in Male Participants with Fragile X Syndrome Pending

2025-523738-21-00 Fragile X Syndrome 4
A Clinical Trial to Investigate the Efficacy, Safety and Pharmacokinetics of Elsunersen in Children Pending

2024-515598-82-00 Voltage-gated sodium channel type II alpha subunit (SCN 5
Morphine PCA vs Morphine and Lidocaine PCA for the treatment of vaso-occlusive crisis-related pain in sickle-cell anaemia patients: a prospe… Pending

2025-523777-41-01 sickle cell anaemia 6
Efficacy and safety of vamifeport in adult subjects with HFE-related hereditary hemochromatosis Pending

2025-523793-16-00 Homeostatic iron regulator gene-related hereditary hemo 4
A study of BMN 333 versus Vosoritide in Children with Achondroplasia Pending

2025-523811-12-00 Achondroplasia 10
CAN-GT Pending

2024-519412-13-00 Canavan disease 7
A First-in-Human Clinical Trial to Assess the Safety, Tolerability and Pharmacokinetics of MR-L45 in Healthy Adults Pending

2025-524899-40-00 Autosomal Dominant Polycystic Kidney Disease 1
A Study to Assess Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of ALE1 in Healthy Adults and Adults with Hypophosphatasia in … Pending

2025-522378-36-00 Hypophosphatasia 7
A Phase 3 Study to Evaluate Efficacy and Safety of a Single Dose of Exa-cel in Subjects with Severe Sickle Cell Disease, βS/βC Genotype Pending

2023-503247-34-00 Sickle cell anaemia 5
Effects of butyrate enemas on postoperative intestinal motility disorders in Hirschsprung’s disease Pending

2025-523094-42-00 Hirschsprung's disease 5