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birth-defects Clinical Trials

A listing of birth-defects medical research trials actively recruiting patient volunteers. Search for closest city to find more detailed information on a research study in your area.

Found 283 clinical trials
M Mariela Jozefkowicz

Physiological Umbilical Cord Clamping in Patients With Congenital Diaphragmatic Hernia. Clinical Trial

Congenital diaphragmatic hernia (CDH) is a malformation that affects 1 in every 3000 newborns. The diaphragm does not complete its closure during embryogenesis, which allows the abdominal organs to herniate into the thoracic cavity altering lung development. The lungs of patients with CDH are small, with a decreased surface area …

years of age All Phase N/A
B Bekalu K Alemu

Preventive Effect of Perinatal Oral Probiotic Supplementation (POPS) on Neonatal Jaundice

This is a randomized double-blind placebo-controlled parallel group superiority clinical trial among 94 pregnant women (47 in each group) to investigate the effect of maternal perinatal probiotic supplementation on neonatal jaundice, breast milk microbiome, maternal stool, and infant fecal microbiome. Vivomixx®-probiotic product will be used as treatment and placebo as …

18 - 45 years of age Female Phase 2
I Ignatia B Van den Veyver, MD

Study of Selected X-Linked Disorders: Aicardi Syndrome

Based on our current understanding of Aicardi syndrome, the condition is hypothesized to occur due to a genetic change on the X-chromosome. The research team is investigating Aicardi syndrome to identify the specific gene location associated with the disorder. The investigators are collecting blood and skin biopsy samples from patients …

years of age All Phase N/A
K Kimberlee Weaver-Lewis, RN

A Trial of Phosphodiesterase-5 Inhibitor in Neonatal Congenital Diaphragmatic Hernia (TOP-CDH)

Congenital diaphragmatic hernia (CDH) occurs in approximately 1 in 3000 US live births, similar to the incidence seen within the Utah Birth Defects cohort. The diaphragmatic defect compromises lung growth and alters pulmonary vascular development. This is reflected postnatally as respiratory failure, pulmonary hypertension (PH) and overall cardiopulmonary dysfunction, particularly …

years of age All Phase 2
A An Dang Do, M.D.

MEHMO Natural History and Biomarkers

This observational natural history study will follow individuals with MEHMO (Mental disability, Epileptic seizure, Hypopituitarism/Hypogenitalism, Microcephaly, Obesity) syndrome or an eIF2-pathway related disorder, who have symptoms such as intellectual delay, seizures, abnormal hormone and blood sugar levels, and decreased motor skills. No current treatment for these conditions is available. A …

1 - 100 years of age All Phase N/A
A Anna David, Professor

Fetal Surgery Interview Study: Parental Perceptions of Fetal Surgery

Open maternal-fetal surgery is currently used on fetuses with myelomeningocele (MMC). Fetoscopic or minimal access fetal surgery is also being used to treat fetuses with congenital diaphragmatic hernia (CDH). Following accurate diagnosis of a congenital malformation such as MMC or CDH, prospective parents face a range of uncertainties regarding the …

18 - 65 years of age All Phase N/A
H Holly L Hedrick, MD

Safety and Efficacy of FETO in CDH: A Phase III Trial

Congenital diaphragmatic hernia (CDH) is a birth defect characterized by the development of a hole in the diaphragm, the breathing muscle that separates the chest from the abdomen. As a result, organs in the abdomen can move into the chest and press on the developing lungs. This prevents the lungs …

18 years of age Female Phase N/A
S Sanam Safi-Rasmussen, MD

European Registry Study on Lymphatic Interventions

This European multicenter observational study aims to evaluate the real-world use, timing, and outcomes of lymphatic interventions in patients with congenital heart disease and/or primary lymphatic disorders. The study will examine the effectiveness of diagnostic imaging and interventional techniques, such as lymphatic embolization, in improving clinical symptoms, biomarkers, and fluid-related …

years of age All Phase N/A
C Colin Morgan, BMedSci BM BS MRCP FRCPCH MD

An Exploratory Physiological Study of Post-operative Recovery in Surgical Neonates and Dimethylarginine:Arginine Levels

The SuNDiAL study will measure levels of two naturally occurring amino acids: Arginine and Asymmetric Dimethylarginine (ADMA) in neonates undergoing abdominal surgery in the first 5 days of life due to congenital abdominal malformations as the participants recover from surgery. The investigators hypothesise that the relationship between Arginine and ADMA …

- 5 years of age All Phase N/A
G Grazia Chiara Menozzi

Advanced Surgical Simulation Processes in the Correction of Skeletal Defects and Deformities

Virtual Surgical Planning (VSP), Computer-Aided Surgical Simulation (CASS) for bone corrections, and the customization of implants and devices through 3D printing, known as Patient-Specific Instruments (PSI) and Graft-Specific Instruments (GSI), are assuming increasingly central roles in orthopedic clinical and surgical practice. One area witnessing notable advancement is the treatment of …

2 - 40 years of age All Phase N/A

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