Find a Study on Birth Defects

NICHD conducts and supports a variety of clinical research related to birth defects. Select a link below to learn more about these projects.

DS-Connect®: The Down Syndrome Registry

DS-Connect® is a registry for people with Down syndrome. It provides a website, created by the NIH Down Syndrome Consortium, where people with Down syndrome and their families can connect with researchers and health care providers; express interest in participating in certain clinical studies on Down syndrome, including studies of new medications and other treatments; and take confidential health-related surveys. These surveys are aimed at better understanding of the health of people with Down syndrome across their lifespans.

Decisional Capacity and Informed Consent in Fragile X Syndrome (FXS)

This project will assess the range of decisional capacity in people with FXS, identify factors associated with individual differences in decisional capacity, validate a rating scale for categorizing decisional capacity, and develop a tablet-based decision aid technology to help researchers and clinicians maximize decisional capacity and consent.

Diaphragmatic Hernia Research & Exploration, Advancing Molecular Science (DHREAMS)

The goal of this study is to identify genes that convey susceptibility to congenital diaphragmatic hernia, in which the diaphragm does not form correctly in the womb.

Down Syndrome Metabolic Health Study

The purpose of this study is to determine which measures best capture cardiovascular disease risk and type 2 diabetes risk in children and adolescents with Down syndrome.

Evaluation of Biochemical Markers and Clinical Investigation of Niemann-Pick Disease, Type C

This study will evaluate clinical and laboratory tests that might be useful in determining whether an investigational drug can slow the progression of Niemann-Pick disease, type C, a genetic disorder that results in progressive loss of nervous system function.

Evaluation and Intervention for the Effects of Osteogenesis Imperfecta

The purpose of this study is to document and assess how and when the multiple secondary features of osteogenesis imperfecta arise. In addition to radiographic, bone density, physical rehabilitation, and dental manifestations, the study assesses the cardiovascular, pulmonary, neurological, and audiology systems of affected individuals.

Milrinone in Congenital Diaphragmatic Hernia (CDH)

Infants with CDH usually have pulmonary hypoplasia and persistent pulmonary hypertension, leading to hypoxemic respiratory failure. In the current pilot trial, neonates with an antenatal or postnatal diagnosis of CDH will be randomized to receive milrinone or placebo to establish the safety of this medication in CDH and test its efficacy in improving oxygenation.

Molecular Bases of Response to Copper Treatment in Menkes Disease, Related Phenotypes, and Unexplained Copper Deficiency

Menkes disease and occipital horn syndrome are two forms of copper deficiency that must be diagnosed and treated very early in life to prevent serious developmental problems. This study will investigate the effectiveness, side effects, and dosage of copper histidine treatment for patients with copper deficiency, sometimes called Menkes disease or occipital horn syndrome.

Network of Clinical Research Studies on Craniosynostosis, Skull Malformations with Premature Fusion of Skull Bones

This study will quantitatively model novel pathways and networks involved in the development of coronal isolated nonsyndromic craniosynostosis (cNSC), with the goal of providing insights into the origin of cNSC and other bone-related disorders and into possible treatments.

Study of VTS-270 (2-hydroxypropyl-β-cyclodextrin) to Treat Niemann-Pick Type C1 (NPC1) Disease

This study aims to evaluate the efficacy and safety of VTS-270 in patients with neurologic manifestations of Niemann-Pick disease, type C1, a rare disease that causes cholesterol to accumulate in the brain, liver, and spleen.

Study on Moebius Syndrome and Other Congenital Facial Weakness Disorders

This study will attempt to characterize the clinical phenotype of Moebius and associated congenital facial weakness syndromes, collect thorough information on possible prenatal environmental exposures, and use genetic studies on DNA from patients and family members of patients to identify disease-causing genes.

Zika in Infants and Pregnancy (ZIP)

This multisite, multicountry study will assess the association between Zika virus infection during pregnancy and adverse maternal/fetal outcomes and the risk of vertical transmission. The study will prospectively enroll a cohort of pregnant women during the first trimester of pregnancy and follow them through their pregnancy to identify clinical evidence of acute Zika virus while controlling for potential confounders. Outcomes in the women, developing fetuses, and infants will be assessed.

Information on current NIH-funded clinical trials on birth defects is available at the link below or by calling 1-800-411-1222.

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