Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] Clinical Trials

250 clinical trials for Diseases [C] - Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16] across international registries, including 22 currently recruiting participants. Compare status, phase, eligibility criteria and locations.

• A Long-term, Open-label Study to Evaluate the Safety and Efficacy of Orally Administered Deucrictibant Extended-Release Tablet for Prophylaxis Against Angioedema Attacks in Adolescents and Adults with Hereditary Angioedema — RECRUITING · PHASE3
• A multicentre, prospective, open-label, uncontrolled Phase 3 study to assess the efficacy, safety and pharmacokinetics of Atenativ in patients with congenital antithrombin deficiency undergoing surgery or delivery — RECRUITING · PHASE3
• A Phase 3b Multicenter Open-label Trial of the Safety, Tolerability, and Efficacy of Tolvaptan in Infants and Children 28 days to less than 18 years of Age with Autosomal Recessive Polycystic Kidney Disease (ARPKD). — RECRUITING · PHASE3
• Multicenter, Safety Follow-up Study to Assess Safety of Prior Treatment with Romosozumab in Children and Adolescents with Osteogenesis Imperfecta — RECRUITING · PHASE3
• A Phase 3 Trial to Evaluate the Long-Term Safety and Efficacy of Navenibart in Participants with Hereditary Angioedema – ORBIT-EXPANSE — RECRUITING · PHASE3
• A Phase 3, Randomized, Double-blind, Sham-controlled Study Investigating the Efficacy and Safety of GTX-102 in Pediatric Subjects with Angelman Syndrome — RECRUITING · PHASE3
• A Phase 2, Multicenter, Randomized, Placebo-controlled, Double-blind Study of the Efficacy and Safety of Vamifeport in Adult Subjects with HFE-related Hereditary Hemochromatosis (FERROCLEAR Study) — RECRUITING · PHASE2
• Prospective, multicenter, randomized, double-blind, parallel group, placebo-controlled, efficacy and safety phase 3 study of an intravenous human plasma-derived C1 esterase inhibitor (C1-INH) concentrate in participants with congenital C1-INH deficiency for the treatment and pre-procedure prevention of acute hereditary angioedema attacks — RECRUITING · PHASE3
• STOP-PKD: SGLT2-inhibition to improve Prognosis in Polycystic Kidney Disease — RECRUITING · PHASE3
• A MULTICENTER, RANDOMIZED, OPEN-LABEL, PHASE III CLINICAL TRIAL TO EVALUATE THE EFFICACY, SAFETY, PHARMACOKINETICS AND PHARMACODYNAMICS OF NXT007 PROPHYLAXIS VERSUS FACTOR VIII PROPHYLAXIS IN PEOPLE WITH HEMOPHILIA A WITHOUT INHIBITORS — RECRUITING · PHASE3
• A Phase 3, Randomized, Double-blinded, Placebo-controlled, Multicenter Study to Evaluate Efficacy and Safety of ALXN1850 Versus Placebo Administered Subcutaneously in Pediatric (2 to < 12 years of age) Participants with Hypophosphatasia Who Have Not Received Previous Treatment with Asfotase Alfa — RECRUITING · PHASE3
• A multinational, prospective, open-label, roll-over study (LIBERTY) to provide post-trial access to treatment for patients with haemophilia A who have completed a previous trial with efanesoctocog alfa — RECRUITING · PHASE3
• A Multicenter, Randomized, Double blind, Vehicle-controlled, Phase 3 Efficacy and Safety Study of Patidegib Gel 2% for the Reduction of Disease Burden of Persistently Developing Basal Cell Carcinomas (BCCs) in Subjects with Gorlin Syndrome — RECRUITING · PHASE3
• A Multi-Center, Single-Arm Clinical Trial to Investigate the Efficacy and Safety of Elsunersen in Pediatric Participants with Early Onset SCN2A Developmental and Epileptic Encephalopathy — RECRUITING · PHASE3
• A randomized, open-label, parallel-group, 18-month Phase 3 study to evaluate the effect of venglustat compared with usual standard of care on left ventricular mass index in participants with Fabry disease and left ventricular hypertrophy — RECRUITING · PHASE3
• A Phase 3 randomized, double-blind, placebo-controlled, parallel group, multicenter study with open-label extension to evaluate the efficacy and safety of fenfluramine hydrochloride in study participants with Rett syndrome — RECRUITING · PHASE3
• CeRebrUm and CardIac protection with ALlopurinol in Neonates with Critical Congenital Heart Disease requiring Cardiac Surgery with Cardiopulmonary Bypass — RECRUITING · PHASE3
• A Phase 3 Randomized, Controlled Study to Assess the Efficacy and Safety of NVD003 compared with Iliac Crest Bone Graft in Pediatric Participants Treated Surgically for Congenital Pseudarthrosis of the Tibia — RECRUITING · PHASE3
• Phase 1/2 Dose-Escalation Study to Evaluate the Safety, Tolerability, and Efficacy of a Single Intravenous Infusion of SPK-3006 in Adults with Late-Onset Pompe Disease — RECRUITING · PHASE2
• A Pilot Study on the Use of Gadopiclenol for Enhanced Cardiac MRI in Children with Congenital Heart Conditions: A self-controlled, non-randomised, open-label study to compare the image quality and diagnostic performance of gadopiclenol versus gadoterate meglumine — RECRUITING · PHASE3
• Morphine PCA vs Morphine and Lidocaine PCA for the treatment of vaso-occlusive crisis-related pain in sickle-cell anaemia patients: a prospective, randomized, double blind monocentric trial. — RECRUITING · PHASE4
• A Phase 1/2 Dose Escalation Study to Evaluate the Safety, Tolerability, Pharmacokinetics, Pharmacodynamics and Preliminary Efficacy of ABO-101 in Participants with Primary Hyperoxaluria Type 1 (PH1) — RECRUITING · PHASE2
• (22419) A randomized, double-blind, placebo-controlled, parallel group Phase 2a study with an extension phase to evaluate the efficacy and safety of BAY 3401016 in participants aged 18 to 45 with Alport syndrome — TERMINATED · PHASE2
• A Multi-center, Double-Blind, Randomized, Two-Arm, Parallel-Group, Placebo Controlled Study to Assess the Efficacy and Safety of ELGN-2112 on Intestinal Malabsorption in Preterm Infants — TERMINATED · PHASE3
• A Phase 2, Open-label, Multicenter Study to Assess the Efficacy and Safety of BW-20805 in Adult Subjects with Hereditary Angioedema — TERMINATED · PHASE2
• A Phase 2/3 Study to Evaluate the Safety, Efficacy, and Pharmacokinetics of Atumelnant Treatment in Pediatric Participants with Congenital Adrenal Hyperplasia Including a Long-Term Extension — TERMINATED · PHASE3
• A Phase II Multicenter, Open-Label Study to evaluate the Efficacy, Safety, Pharmacokinetics, and Pharmacodynamics of Satralizumab in Pediatric Patients with Duchenne Muscular Dystrophy (SHIELD DMD) — TERMINATED · PHASE2
• Effects of N-Acetyl-L-Leucine on Ataxia-Telangiectasia (A-T): A Phase III, randomized, placebo-controlled, double-blind, crossover study — TERMINATED · PHASE3
• I2BIO-HD. Innovative Imaging and cognitive BIOmarkers to predict Huntington’s Disease progression — TERMINATED · PHASE3
• A Study to Assess the Effects of Probenecid on the Pharmacokinetics of Mirdametinib and its Metabolites in Healthy Participants — NOT_YET_RECRUITING · PHASE1
• An Open-label Phase 1 Study in Healthy Adult Participants to Investigate the Effect of Itraconazole on the Blood Levels of Engasertib — NOT_YET_RECRUITING · PHASE1
• Intrathecal Administration of MELPIDA For Hereditary Spastic Paraplegia Type 50 (SPG50): A multicenter Phase 3, Open-Label Trial with Matched Prospective Concurrent Control Arm (CT-MEL-03) — NOT_YET_RECRUITING · PHASE3
• A Phase 1B, Open-Label Study of Mirdametinib in Infants and Toddlers with Neurofibromatosis Type 1 associated Plexiform Neurofibromas — NOT_YET_RECRUITING · PHASE1
• Randomized, Double-Blind, Placebo-Controlled, Phase 2 Study of MRM-3379 in Male Participants with Fragile X Syndrome — NOT_YET_RECRUITING · PHASE2
• A Phase 1/2/3 First-in-Human, Open-Label, Dose-Escalation Study to Evaluate the Safety and Efficacy of a Single Intravenous (IV) Administration of ECUR-506 in Males Less than 9 Months of Age with Genetically Confirmed Neonatal Onset Ornithine Transcarbamylase (OTC) Deficiency — TERMINATED · PHASE2
• A global phase 3, randomised, double-blind and placebo-controlled study evaluating the efficacy and safety of etavopivat in adolescents and adults with sickle cell disease — TERMINATED · PHASE3
• A First-in-Human Clinical Trial to Assess the Safety, Tolerability and Pharmacokinetics of MR-L45 in Healthy Adults — TERMINATED · PHASE1
• A Phase 3 Study to Evaluate the Safety and Pharmacokinetics of Berotralstat Prophylaxis in Children with Hereditary Angioedema (HAE) Who Are 2 To < 12 Years of Age. — TERMINATED · PHASE3
• A Randomised, Placebo-Controlled, Double-Blind, Single-Ascending Dose and Multiple-Ascending Dose First-In-Human Study to Investigate the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of Orally Administered ALE1 With or Without Food in Healthy Adult Participants and Adult Patients With Hypophosphatasia — NOT_YET_RECRUITING · PHASE2
• AN OPEN-LABEL, MULTICENTER STUDY IN MALE PEDIATRIC PATIENTS WITH CEREBRAL X-LINKED ADRENOLEUKODYSTROPHY (CALD) TO ASSESS THE EFFECTS OF MIN-102 TREATMENT ON DISEASE PROGRESSION PRIOR TO HUMAN STEM CELL TRANSPLANT (HSCT) — TERMINATED · PHASE3
• Phase I/II/III Gene Transfer Clinical Trial of scAAV9.U1a.hSGSH for Mucopolysaccharidosis (MPS) IIIA — TERMINATED · PHASE2
• 4TAZPower: A Phase 3b/4, Randomized, Double-Blind, Parallel-Group, Placebo-Controlled, Trial to Evaluate the Efficacy and Safety of Daily Subcutaneous Injections of Elamipretide in Patients with Genetically Confirmed Barth Syndrome — NOT_YET_RECRUITING · PHASE3
• Efficacy and Safety of Concizumab prophylaxis in patients with haemophilia A or B without inhibitors — TERMINATED · PHASE3
• A Randomized, Double-Blind, Multicenter, Placebo-Controlled Study to Evaluate the Safety and Efficacy of Atumelnant in Adult Participants with Classic Congenital Adrenal Hyperplasia — TERMINATED · PHASE3
• The ENERGY 2 Study: An Open-Label Phase 3 Study to Evaluate the Efficacy and Safety of INZ-701 in Infants with Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENPP1) Deficiency — OTHER · PHASE3
• Long-Term Low-Intervention SafEty and Clinical Outcomes Clinical Study of LivmArli® in Patients with Alagille Syndrome or Progressive Familial Intrahepatic Cholestasis in the European Union (LEAP-EU) — TERMINATED · PHASE4
• A three-period multicenter study, with a randomized-withdrawal, double-blinded, placebo-controlled design to evaluate the clinical efficacy, safety and tolerability of MAS825 in patients with monogenic IL-18 driven autoinflammatory diseases, including NLRC4-GOF, XIAP deficiency, or CDC42 mutations. — TERMINATED · PHASE2
• Osprey: An Open-label Study to Investigate the Safety, Tolerability, and Exposure of Single Ascending Doses of the Antisense Oligonucleotide STK-002 in Patients with Autosomal Dominant Optic Atrophy — TERMINATED · PHASE1
• A French multicenter Phase 4 open label extension study of long-term safety and efficacy in patients with Pompe disease who previously participated in avalglucosidase development studies in France — TERMINATED · PHASE4
• A Multi-center, Double-Blind, Randomized, Two-Arm, Parallel-Group, Placebo Controlled Study to Assess the Safety of ELGN-2112 in Populations of Interest — TERMINATED · PHASE3

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