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A Study of the Genetic Analysis of Brain Disorders

NCT00645645 · Status: COMPLETED · Type: OBSERVATIONAL · Enrollment: 5735

Last updated 2021-12-14

No results posted yet for this study

Summary

A study of the complex genetics of brain development will be undertaken with an emphasis on those genes that cause the most common structural brain anomaly in humans called holoprosencephaly (HPE). This malformation of the brain can result from either environmental or genetic causes, and it is the aim of these investigations to determine the genes responsible for both normal and abnormal brain development through the study of patients with this disorder. Mutations in one such gene, Sonic Hedgehog, have been shown by us to be responsible for approximately one quarter of familial cases of HPE. Other genes either related to the hedgehog pathway or located at unrelated defined genetic loci may also contribute to HPE and are the subject of active investigation. We anticipate that many genes important for normal brain development will be identified in the search for genetic causes of HPE.

Conditions

  • Holoprosencephaly

Sponsors & Collaborators

  • National Human Genome Research Institute (NHGRI)

    lead NIH

Principal Investigators

  • Benjamin D Solomon, M.D. · National Human Genome Research Institute (NHGRI)

Eligibility

Min Age
1 Month
Sex
ALL
Healthy Volunteers
Yes

Timeline & Regulatory

Start
2008-06-01
Primary Completion
2021-01-19
Completion
2021-01-19

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT00645645 on ClinicalTrials.gov