Congenital, Hereditary, and Neonatal Diseases and Abnormalities

281 trials 114 recruiting

Filter these 281 trials by phase, country and sponsor.

Open in Search →

Long-Term Extension Study of Vosoritide to Treat Children with Hypochondroplasia Recruiting

2024-517238-16-00 Hypochondroplasia 5 2026-01-28
A study to investigate the safety and efficacy of infigratinib compared with placebo in infants and young children with achondroplasia Recruiting

2024-518072-31-00 Achondroplasia 4 2026-01-27
A study to learn about how well BAY 3401016 works in adults with Alport syndrome Recruiting

2024-516471-33-00 Alport Syndrome 4 2026-01-19
A Phase 3 Study of JNT-517 in Participants with Phenylketonuria Recruiting

2024-519554-37-00 Phenylketonuria 5 2026-01-16
Efficacy of intravesical oxybutynin in children with neurogenic bladder dysfunction: A randomized, prospective controlled multi-center trial… Recruiting

2022-501902-36-00 spina bifida 5 2026-01-15
Metformin for cancer prevention in Li-Fraumeni Syndrome (LFS) Recruiting

2025-520714-63-00 Li-Fraumeni syndrome 5 2026-01-05
A Study to Evaluate How Apitegromab Works in Subjects Who Are Less Than 2 Years Old and Have Spinal Muscular Atrophy Recruiting

2024-520130-29-00 Spinal Muscular Atrophy 4 2025-12-17
PHASE 2B TRIAL OF AEF0217 IN PARTICIPANTS WITH DOWN SYNDROME Recruiting

2025-521013-10-00 Treatment of behavioural and cognitive impairments in D 4 2025-12-11
EPIK-P4: A Phase II single-arm study to assess the efficacy, safety and pharmacokinetics of alpelisib (BYL719) in pediatric and adult patien… Recruiting

2024-519960-42-00 PIK3CA-Related Overgrowth Spectrum (PROS) 4 2025-12-11
A Study to Investigate the Safety, Tolerability, and Exposure of Single Doses of the study medicine STK-002, in Patients with Autosomal Domi… Recruiting

2023-506290-35-00 Autosomal Dominant Optic Atrophy 1 2025-12-08
GAIN-CTNNB1: A Phase I/II open-label trial to evaluate the safety, tolerability, and preliminary efficacy of a single intracerebroventricula… Recruiting

2025-522719-40-00 CTNNB1 syndrome 7 2025-11-21
RLY-2608-201-Ph2 Study of RLY-2608 in PROS and PIK3CA Driven Malformations Recruiting

2024-518895-30-00 PIK3CA Related Overgrowth Spectrum and Malformations Dr 4 2025-11-21
A Phase 2 Study of CRD-4730 in CPVT Recruiting

2024-515564-32-00 Catecholaminergic Polymorphic Ventricular Tachycardia 4 2025-11-20
Efficacy of dexmedetomidine versus midazolam sedation on extubation time in mechanically ventilated preterm infants: a randomized controlled… Recruiting

2023-508785-16-00 Very preterm neonate (gestational age at birth < 32 WG) 5 2025-10-17
A research study to evaluate how well etavopivat works in people with sickle cell disease - Hibiscus 2 Recruiting

2023-509175-16-00 Sickle cell disease 5 2025-10-14
A research study looking at how different doses of study medicine (Inno8) work in the body of people with haemophilia A Recruiting

2025-520490-38-00 Haemophilia A with or without inhibitors. Proposed indi 3 2025-10-13
Umbilical vein catheterization through Wharton’s jelly in the delivery room : CaDOm multicenter clinical trial. Recruiting

2024-515249-41-00 Cardiorespiratory arrest at birth in full-term newborns 10 2025-10-01
Long Term Study of Livmarli Recruiting

2024-516804-40-00 Progressive Familial Intrahepatic Cholestasis 6 2025-09-25
A study of Navenibart in Participants with Hereditary Angioedema Recruiting

2025-521660-35-00 Hereditary Angioedema 5 2025-09-11
Evaluation of safety, side effects and how the drug CHF6467 administrated via intranasal route is absorbed, modified and removed in healthy … Recruiting

2025-521455-23-00 Neonatal Hypoxic-Ischemic Encephalopathy (HIE) 3 2025-09-11
Open-Label followed by a Double-Blind, Placebo-Controlled Study to Investigate the Efficacy and Safety of Infigratinib in Children with Hypo… Recruiting

2024-516822-67-00 Hypochondroplasia 10 2025-08-14
A study to evaluate the safety, tolerability, pharmacokinetics and pharmacodynamics of GSK4771261 in healthy participants and participants w… Recruiting

2024-516095-15-00 Kidney Disease 1 2025-08-05
Clinical Trial on PREnatal Dexamethasone In Congenital adrenal hyperplasia Therapy - PREDICT - Recruiting

2024-511702-23-00 Congenital adrenal hyperplasia 4 2025-08-05
A study to learn about the safety and effectiveness of CRN04894 on participants Recruiting

2024-514846-35-00 CONGENITAL ADRENAL HYPERPLASIA 4 2025-07-22