Birth Defects: Clinical Trials

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

Featured NICHD Clinical Trials on Birth Defects

Characterization of WAGR Syndrome and Other Chromosome 11 Gene Deletions

This study explores conditions caused by the absence of certain genes on chromosome 11. These conditions include WAGR syndrome, which is characterized by a kidney tumor called Wilms tumor, aniridia (absence of the iris of the eye), genital and urinary abnormalities, intellectual disability, and possibly other symptoms.

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.

Psychosocial Adjustment of Adolescents With Spina Bifida (CHATS)

This study evaluates a model of psychological adjustment in young adolescents with spina bifida. It collects data on extensive biological, neuropsychological, and social variables in participants. The study is the first to collect observed peer interaction data in these children.

Study of Inborn Errors of Cholesterol Synthesis and Related Disorders

This study investigates the cause and medical problems associated with a group of genetic disorders in which the body does not produce cholesterol. People with this disorder may have birth defects and learning and behavioral problems. This study will gather blood and tissue samples and other medical information from carriers and those affected by related disorders, including Smith-Lemli-Opitz syndrome, lathosterolosis, desmosterolosis, X-linked dominant chondrodysplasia, CHILD syndrome, Greenberg dysplasia, and some cases of Antley-Bixler syndrome.

Study of Smith-Lemli-Optiz Syndrome (SLOS)

This study was developed to answer questions about the causes and complications of SLOS as well as the effectiveness of cholesterol treatment. SLOS is a genetic disorder caused by an abnormality in the production of cholesterol. Some of the birth defects associated with SLOS include abnormal facial features; poor muscle tone; poor growth; shortened life span; and abnormalities of the heart, lungs, brain, gastrointestinal tract, limbs, genitalia, and kidneys.

Turner Syndrome: Genotype and Phenotype

This study examines the clinical and genetic factors related to Turner syndrome, a disorder of the sex chromosomes. This abnormality can cause medical problems such as short stature, premature ovarian failure, and heart or kidney defects. Individuals with Turner syndrome have an increased risk of thyroid disorders, high blood pressure, diabetes mellitus, abnormal liver function, hearing loss, and osteoporosis. This study will try to identify the genes responsible for the specific medical problems associated with the disorder.

NICHD Clinical Trials

• All NICHD Clinical Trials on birth defects

ClinicalTrials.gov Search Results

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

• All ClinicalTrials.gov Trials on birth defects