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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 317 clinical trials
F Federico Antillon Klussmann, MD

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 …

3 - 18 years of age All Phase N/A
W Wenhao Zhou, Doctor

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 …

- 28 years of age All Phase N/A
G Guillaume Canaud, MD, PHD

National Evaluation of Patients With PIK3CA-Related Overgrowth Spectrum (PROS)

Overgrowth syndromes are rare genetic disorders defined by tissue hypertrophy that can be either localized or generalized, affecting both latitudinal and longitudinal growth. The genes involved in overgrowth syndromes are not well characterized but mostly concern the PIK3CA/AKT/mTOR pathway, a major actor of cell growth and proliferation. The mutations are …

years of age All Phase N/A

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.

18 years of age All Phase N/A
D Diana Balmer-Minnes

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 …

years of age All Phase N/A
D Daniel E Hale, M.D.

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. …

years of age All Phase N/A
S Samuel Rowe

MIDI (MR Imaging Abnormality Deep Learning Identification)

The study involves the development and testing of an artificial intelligence (AI) tool that can identify abnormalities using patient head scans conducted for routine clinical care and research volunteer scans. A deep learning algorithm will be developed using a dataset of retrospective and prospective MRI head scans to train, validate, …

18 years of age All Phase N/A
E Edward SA Connolly, Jr,, MD., Ph.D

Stryker PEEK Customized Implant: A Prospective Post Market Follow Up to Evaluate Safety, Performance and Effectiveness

The purpose of this study is to confirm the safety, performance and effectiveness of Stryker's PEEK Customized Implants when used for the augmentation and/or restoration of bony and/or soft tissue deformities in the cranial and craniofacial skeleton. The study is designed as a prospective, multi-center trial with a long-term follow-up …

42 years of age All Phase N/A
K Kristine Kempf, SC

Comprehensive HHT Outcomes Registry of the United States (CHORUS)

The Comprehensive HHT Outcomes Registry of the United States (CHORUS) is an observational registry of patients diagnosed with Hereditary Hemorrhagic Telangiectasia (HHT). The purpose of this study is to better understand HHT, the symptoms and complications it causes, and the impact the disease has on people's lives. The investigators will …

years of age All Phase N/A

AI-Powered ECG Detecting Culprit Vessel Blood Flow Abnormality in ACS

AI ECG TIMI is an investigator-initiated, international, and multicenter registry of acute coronary syndrome patients aimed to identify electrocardiographic findings detected by an AI model predicting coronary blood flow alteration. The aim of the study is to identify electrocardiographic findings detected by an automated artificial intelligence (AI) model that can …

18 - 85 years of age All Phase N/A

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