Congenital, Hereditary, and Neonatal Diseases and Abnormalities

281 trials 114 recruiting

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Open-Label Extension of EryDex in A-T (OLE NEAT) Ended

2024-513618-37-00 Ataxia Telangiectasia (A-T) 5 2024-12-23
A Phase 3, Randomized, Double-Blind, Placebo-Controlled, Multicenter Study to Evaluate the Efficacy and Safety of Vosoritide in Children Wit… Ended

2024-513129-22-00 Hypochondroplasia 5 2024-12-17
Phase 2 Study on the Pharmacokinetics and Safety of RLYB212 in Pregnant Women at Higher Risk for HPA-1a Alloimmunization Ended

2024-512651-20-00 Fetal and Neonatal Alloimmune Thrombocytopenia due to H 4 2024-11-20
A Phase 1/2 Study of VX-522 in Subjects with Cystic Fibrosis Ended

2023-504786-23-00 Cystic Fibrosis 7 2024-11-18
The ENERGY Study: Evaluation of the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of INZ-701 in Infants with ENPP1 Deficiency… Ended

2023-507384-20-00 Ectonucleotide Pyrophosphatase/Phosphodiesterase 1 (ENP 3 2024-10-21
Vonafexor fixed dose-escalation safety and proof-of-concept study in patients with at risk of progression Alport syndrome Ended

2023-509638-20-00 Alport Syndrome 4 2024-09-30
An open-label, fixed sequence drug interaction study in healthy subjects to investigate the effect of multiple doses of the gastric acid-red… Ended

2023-506305-18-01 Hereditary angioedema 3 2024-09-19
A research study looking at how different doses of study medicine (Inno8) works in the body of healthy men. Ended

2023-506520-90-00 Prophylaxis and on-demand treatment respectively in pat 1 2024-09-16
A study of aficamten (CK-3773274) in adults with symptomatic non-obstructive hypertrophic cardiomyopathy (ACACIA) Ended

2023-505797-15-00 SYMPTOMATIC NON-OBSTRUCTIVE HYPERTROPHIC CARDIOMYOPATHY 5 2024-09-13
Treatment of congenital nephrogenic diabetes insipidus with fluconazole an antifungal medication. Ended

2024-517438-16-00 Nephrogenic diabetes insipidus 4 2024-09-12
A research study to evaluate the effects of single doses of NNC0614-0001 in healthy adult volunteers, and participants with hereditary haemo… Ended

2023-504574-38-00 Hereditary haemochromatosis (HH) type 1 3 2024-09-06
A Phase I, open-label, fixed sequence drug interaction study in healthy subjects to investigate the effect of a 40 mg deucrictibant tablet a… Ended

2024-514713-35-00 Hereditary angioedema 3 2024-08-08
Prospective pilot trial to address the feasibility and safety of treatment with oral Zinc in GNAO1 associated disorders (ZINCGNAO1) Ended

2024-512735-72-00 GNAO1 associated disorders 4 2024-07-30
A study where all patients receive the test drug, in order to understand the consequences of long-term test drug use on the human body. All … Ended

2023-508165-33-00 Fragile X Syndrome (FXS) 5 2024-07-26
A study to learn how safe KER-0193 is, the activity of KER-0193 in the body over a period of time, and the effect of KER-0193 to the body in… Ended

2024-511468-94-00 Fragile X syndrome 1 2024-07-10
A Phase I, open-label, randomized, two period, cross-over study in healthy subjects to assess the bioavailability of different formulations … Ended

2024-511196-15-00 Hereditary angioedema (HAE) 3 2024-06-13
A Multi-center, Randomized, Double-blind, Placebo-controlled Trial to Evaluate the Neurological Effects of EryDex on subjects with Ataxia-Te… Ended

2023-509077-23-00 Ataxia Telangiectasia 5 2024-06-03
Phase 2 study comparing SAR447537 to plasma-derived A1PI therapy for AATD emphysema Ended

2023-508084-76-00 Alpha-1 Antitrypsin Deficiency (AATD) Emphysema 4 2024-05-31
CSL312_3003 Safety and Pharmacokinetic study in Subjects 2 to 11 Years of Age with Hereditary Angioedema Ended

2022-502386-13-00 Hereditary angioedema (HAE) 5 2024-05-10
A trial to learn about a study drug (STAR-0215) in adults with hereditary angioedema Ended

2022-502953-32-01 Hereditary Angioedema (HAE) 9 2024-04-02
A Study to Evaluate the Pharmacokinetics of Afamelanotide in Patients with Erythropoietic Protoporphyria (EPP). Ended

2023-507311-35-00 Erythropoietic Protoporphyria (EPP) 9 2024-03-07
A trial to compare the efficacy and safety of aficamten (CK-3773274) compared with metoprolol succinate in adults with symptomatic hypertrop… Ended

2023-504809-37-00 Symptomatic Obstructive Hypertrophic Cardiomyopathy 5 2024-02-07
A Phase 2a Study to Evaluate Setanaxib in Patients with Alport Syndrome Ended

2023-505292-73-00 Alport syndrome 4 2024-01-10
A Gene Transfer Therapy Study to Evaluate the Safety and Efficacy of Delandistrogene Moxeparvovec (SRP-9001) Following Imlifidase Infusion … Ended

2024-512624-11-00 Duchenne muscular dystrophy (DMD) 3 2023-12-15