Congenital, Hereditary, and Neonatal Diseases and Abnormalities

281 trials 114 recruiting

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A study to evaluate the effect of venglustat tablets on neuropathic and abdominal pain in male and female participants ≥16 years of age with… Ended

2024-511990-31-00 Fabry Disease 5 2022-06-28
A Study to Evaluate NTLA-2002 in adults with Hereditary Angioedema (HAE) Ended

2024-512317-40-00 Hereditary Angioedema 9 2022-04-13
A research study to find out if the study treatment alpelisib (BYL719) is safe for a long period of time for who has confirmed diagnosis of … Ended

2023-508522-95-00 PIK3CA-Related Overgrowth Spectrum (PROS) 4 2022-01-27
A long term Investigation of the Safety and Efficacy of Odevixibat in Patients with Alagille syndrome Ended

2023-509028-17-00 Alagille Syndrome 5 2022-01-06
A research study to compare different doses of a new investigational medicinal product for treatment of certain patients with Duchenne muscu… Ended

2024-511492-15-00 Duchenne Muscular Dystrophy 5 2021-12-09
Study to evaluate the efficacy and safety of MAS825 in patients with autoinflammatory diseases. Ended

2023-504419-34-00 Autoinflammatory diseases including NLRC4-Gain of Funct 4 2021-04-29
A research study to find out if the study treatment alpelisib (BYL719) is safe and can help others who have confirmed diagnosis of PIK3CA-re… Ended

2023-508530-34-00 PIK3CA-Related Overgrowth Spectrum (PROS) 4 2021-04-19
Study to Evaluate the Efficacy, Safety, Pharmacokinetics and Pharmacodynamics of Intrathecally Administered ION373 in Patients with Alexande… Ended

2024-510603-11-00 Alexander Disease 7 2021-04-08
A study investigating the long-term safety and efficacy of intravenous (IV) ATB200 when Co-administrated with oral AT2221 in adult subjects … Ended

2023-505170-15-00 Adult Subjects With Late Onset Pompe Disease (LOPD) 5 2020-05-15
Research study to look at how well the drug Concizumab works in your body if you have haemophilia without inhibitors Ended

2023-506831-13-00 haemophilia A (HA) without inhibitors and haemophilia B 5 2020-01-15
Research study to look at how well the drug concizumab works in your body if you have haemophilia with inhibitors Ended

2023-506832-33-00 haemophilia A (HA) with inhibitors and haemophilia B (H 5 2019-11-06
AN OPEN-LABEL, MULTICENTER STUDY IN MALE PEDIATRIC PATIENTS WITH CEREBRAL X-LINKED ADRENOLEUKODYSTROPHY (CALD) TO ASSESS THE EFFECTS OF MIN-… Ended

2024-513774-21-00 CEREBRAL X-LINKED ADRENOLEUKODYSTROPHY (CALD) 4 2019-09-13
Treatment of severe congenital Brittle bone disease after or before and after birth. Ended

2023-504593-38-00 Osteogenesis Imperfecta (OI) type III and severe type I 9 2019-08-12
A clinical study to learn about the effects of a virus that transfers the gene for human Ornithine Transcarbamylase (OTC) in adults with lat… Ended

2022-501146-30-00 Ornithine transcarbamylase deficiency 9 2018-09-17
A trial funded by the German Federal Ministry for Education and Research (BMBF) to evaluate the effects of closed-loop automatic control of … Ended

2024-511335-10-01 Preterm infants with a gestational age (GA) at birth of 5 2018-07-01
A Study to Determine the Long-Term Safety, Tolerability and Biological Activity of SAR421869 in Patients With Usher Syndrome Type 1B Ended

2024-513500-34-00 Usher's syndrome 4 2015-11-09
Clinical trial to investigate the treatment with apotransferrin of patients with atransferrinemia Ended

2024-515986-33-00 Congenital atransferrinaemia/ hypotransferrinaemia 4 2010-11-12
A dose finding study of LY3884961 in patients with Gaucher disease Halted

2022-500281-10-02 Type 1 Gaucher Disease (Peripheral/Non-neuronopathic Ma 9 2026-02-06
A phase 1, double-blind, placebo-controlled, randomized, single ascending dose and multiple ascending dose study to assess the safety, toler… Ended

2024-519813-74-00 Adult polyglucosan body disease (APBD). 3 2025-06-27
A long-term trial to learn about the safety of carbetocin as treatment for uncontrollable hunger in people with Prader-Willi Syndrome Ended

2023-506201-19-00 Hyperphagia related behaviour associated with Prader-Wi 5 2025-04-28
A Multi-Center, Randomized, Double-Blind, Placebo-Controlled Study to Assess the Efficacy, Safety, Tolerability, Pharmacokinetics and Pharma… Ended

2023-506723-28-00 Mitochondrial encephalomyopathy, lactic acidosis and st 4 2025-03-20
Pharmacokinetic comparison of efanesoctocog alfa vs other EHL-rFVIII products in participants with severe haemophilia A Ended

2023-505801-17-00 Haemophilia A 2 2025-01-15
A trial to learn how a trial drug called carbetocin works in reducing uncontrollable hunger in people with Prader-Willi syndrome Ended

2023-506200-24-00 Hyperphagia related behaviour associated with Prader-Wi 5 2025-01-10
A Phase I, Open-Label, Randomized, Two-Period, Cross-Over Study in Healthy Subjects to Assess the Influence of a High-Calorie, High-Fat Meal… Ended

2024-518453-41-00 Hereditary angioedema (HAE) 3 2024-12-30