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
MRI Study of Musculoskeletal Function
This study will use magnetic resonance imaging (MRI) and ultrasound images to study how muscles, tendons, and bones work together to cause motion. The procedure is one of several tools being developed to characterize normal and impaired musculoskeletal function, with the goal of developing improved methods of diagnosis and treatment …
National Cohort on Congenital Defects of the Eye
Congenital malformations of the eye comprise various developmental defects including microphthalmia, anophthalmia, aniridia, and anterior segment anomalies (such as Peters and Axenfeld-Rieger anomalies). These malformations are frequently associated with extra-ocular features and intellectual disability. However, little is known about visual outcome, frequency and consequences of extra-ocular features in patients. The …
InterNatIonal CHildhood Leukemia Microbiome/MEtabolome Cohort
Nutritional status is a measurable and modifiable factor that is often not considered during treatment and its clinical impact undervalued due in part to the heavy demands on clinicians in low and middle income countries to deliver therapy to large numbers of patients. The proposed study will create a biobank …
The China Neonatal Genomes Project
The project will carry out the genetic testing of 100000 neonates in the next 5 years. The aim of the project is to construct the Chinese neonatal genome database, establish the genetic testing standard of neonatal genetic diseases, and promote the industrialization of neonatal genetic disease gene testing, improve the …
A Phase 2 Study of Mutant-selective PI3Kα Inhibitor, RLY-2608, in Adults and Children With PIK3CA Related Overgrowth Spectrum and Malformations Driven by PIK3CA Mutation
This is a 3-part Phase 2 randomized study evaluating the safety and efficacy of the mutant-selective PI3Kα inhibitor, RLY-2608, in adults and children with PIK3CA Related Overgrowth Spectrum (PROS) and malformations driven by PIK3CA mutation. Part 1 is a dose selection, Part 2 is a basket design with exploratory single-arm …
"Fetal gRowth AbnorMality dEtection Trial"
The present trial intends to assess the diagnostic accuracy of symphysis fundal height (SFH) as opposed to SFH combined with point of care ultrasound to measure the fetal abdominal circumference (POC-US-AC) in identifying small and large for gestational age infants (SGA and LGA infants) among low-risk pregnant women cared for …
FACE.S-4-KIDS : A Deep Phenotyping Database of Craniofacial Anomalies During Development With 4 Pilot Projects
FACE.S-4-KIDS is an ambitious database project addressing the scientific question of the variable expression of craniofacial disorders in humans, to reach a sound clinical management (diagnosis, prognosis), and the establishment of personalised treatment plans.
Fetal Ebstein Anomaly and Tricuspid Valve Dysplasia Registry
Ebstein anomaly and tricuspid valve dysplasia (EA/TVD) are rare congenital tricuspid valve malformations that carry among the highest mortality of all congenital heart disease diagnosed in utero. Despite the high mortality associated with severe EA/TVD in the fetus, it has only been studied retrospectively. By prospectively enrolling a cohort across …
Long Term Follow-up After Embolization of Brain Arteriovenous Malformations
The time-frame and the follow-up elements after embolization of brain arteriovenous malformations are not standardized. Therefore, few reliable follow-up data are available for these patients. This study aims at collecting standardized long term data for these patients.
Chromosome 18 Clinical Research Center
Our vision, that of the researchers at the University of Texas Health Science Center at San Antonio, is that every person with a chromosome 18 abnormality will have an autonomous and healthy life. Our mission is to provide families affected by chromosome 18 abnormalities with comprehensive medical and educational information. …
