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Clinical Trial Summary

OBJECTIVES: I. Correlate clinical outcome with cerebral glucose metabolism in patients with Huntington's disease (HD) and their at-risk relatives.

II. Evaluate the efficacy of cerebral glucose metabolism in observing the pathophysiologic development of HD, monitoring responses to experimental therapy, and predicting HD genotype.

III. Identify, define, and describe the natural history of pathophysiologic lesions in HD.

IV. Characterize the genotypic and phenotypic expression of the HD gene.


Clinical Trial Description

PROTOCOL OUTLINE: Participants are screened for Huntington's disease, including cerebral glucose metabolism assessment and genetic testing.

Studies include a detailed family history and neurologic, psychometric, and neurobehavioral evaluations. Imaging includes positron emission tomography with fluorodeoxyglucose and brain magnetic resonance imaging.

A genotype assessment is performed; genetic results are not disclosed to patients or relatives. ;


Study Design

Primary Purpose: Screening


Related Conditions & MeSH terms


NCT number NCT00004753
Study type Observational
Source Office of Rare Diseases (ORD)
Contact
Status Completed
Phase N/A
Start date August 1993

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