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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.

RESULTS

Found (18) clinical trials

An Investigation of Pituitary Tumors and Related Hypothalmic Disorders

There are a variety of tumors affecting the pituitary gland and hypothalamus; the gene(s) involved in the pathogenesis of these tumors are largely not known; their possible association with other developmental defects or inheritance pattern(s) has not been investigated. The present study serves as a (i) screening, and, (ii) an …

Phase N/A

Whole Genome Medical Sequencing for Genome Discovery

We aim to use whole-genome medical sequencing (WGMS) to discover causative molecular lesions for a set of rare, severe phenotypes hypothesized to be caused by either somatic mutations, germline de novo heterozygous mutations, germline inherited recessive, or germline inherited dominant mutations in currently unknown or uncharacterized genes. The goal of …

Phase N/A

MRI Study of Musculoskeletal Function

The overall goal of this technology development initiative is to greatly advance the clinical diagnosis and treatment of musculoskeletal impairments as they relate to joint function. The primary focus of this protocol is to initially develop and ultimately validate a combined set of tools (virtual functional anatomy - VFA) that …

Phase N/A

Study of Smith-Lemli-Opitz Syndrome

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital anomaly/mental retardation syndrome. Typical clinical features include a distinctive facial appearance, mental retardation, autistic behavior, hypotonia, failure to feed, poor growth, decreased life span, and variable structural anomalies of the heart, lungs, brain, gastrointestinal tract, limbs, genitalia and kidneys. The SLOS …

Phase N/A

Personalized Genomic Research

Recent advances in genomic techniques are making possible a new wave of genetic discovery. We hope to couple genomic techniques with more traditional methods involved in genetic discovery in order to investigate a broad range of conditions for which there is strong evidence that genetic factors are involved. To accomplish …

Phase N/A

Fabrication of Sequential Naso-Alveolar Molding Appliances in the Treatment of Cleft Lip/Nose Deformities

Approximately 7000 babies are born with a cleft lip and/or cleft palate in the United States per year. Globally, this defect is staggeringly common, with 100,000 new cases per year. This defect is due to a failure of normal fusion between facial structures, causing a full thickness gap of the …

Phase N/A

The China Neonatal Genomes Project

There are about 900,000 new cases of birth defects in China every year. There are a large number of hereditary diseases, such as primary immune deficiency diseases, genetic metabolic diseases and multiple malformation syndrome, etc. It is important to identify and diagnose these diseases early in life, which can optimize …

Phase N/A

Brain Development Research Program

We are studying both the genetics and clinical features of these disorders. We hope to understand the problems faced by individuals with these disorders as well as their causes. In the future, we hope to develop therapies that are geared specifically for individuals based on the underlying biology. To participate …

Phase N/A

Craniofacial Microsomia: Accelerating Understanding of the Significance and Etiology

The CAUSE study is a multicenter study, with domestic (n=4) and international (n=6) study sites. Children and young adults (ages 0-18) who have microtia and/or craniofacial microsomia and their parents are invited to participate. Children and parents are asked to provide a DNA sample (blood or saliva) and are asked …

Phase N/A

Fast Exome for Diagnosis of Congenital Conditions in Infants Under 12 Months of Age Hospitalized in Intensive Care Unit

This prospective study is the first French study aiming to evaluate the feasibility of fast trio exome sequencing (less than 16 days between informed consent signature and consultation for results presentation to the parents) in 15 infants under the age of 12 months hospitalized in the Intensive Care Unit. Included …

Phase N/A