Child to Adult Neurodevelopment in Gene Expanded Huntington's Disease (ChANGE HD)

  • STATUS
    Recruiting
  • End date
    Aug 31, 2024
  • participants needed
    400
  • sponsor
    Peggy C Nopoulos
Updated on 15 May 2022
autosomal dominant
diffusion tensor imaging
cognitive assessment
neurodegenerative diseases
chorea
htt gene
Accepts healthy volunteers

Summary

Huntington's Disease (HD) is an autosomal dominant disease manifested in a triad of cognitive, psychiatric, and motor signs and symptoms. HD is caused by a triplet repeat (CAG)expansion in the gene Huntingtin (HTT). This disease has classically been conceptualized as a neurodegenerative disease. However, recent evidence suggests that abnormal brain development may play an important role in the etiology of HD. Huntingtin (HTT)is expressed during development and through life. In animal studies, the HTT gene has been shown to be vital for brain development. This suggests that a mutant form of HTT (gene-expanded or CAG repeats of 40 and above) would affect normal brain development. In addition, studies in adults who are gene-expanded for HD, but have not yet manifested the illness, (pre-HD subjects) have significant changes in the structure of their brain, even up to 20 years before onset of clinical diagnosis. How far back these changes are evident is unknown. One possibility is that these brain changes are present throughout life, due to changes in brain development,though initially associated with only subtle functional abnormalities.

In an effort to better understand the developmental aspects of this brain disease, the current study proposes to evaluate brain structure and function in children, adolescents, and young adults (ages 6-30) who are at risk for developing HD - those who have a parent or grandparent with HD. Brain structure will be evaluating using Magnetic Resonance Imaging (MRI) with quantitative measures of the entire brain, cerebral cortex, as well as white matter integrity via Diffusion Tensor Imaging. Brain function will be assessed by cognitive tests, behavioral assessment, and physical and neurologic evaluation. Subjects that are gene-expanded (GE) will be compared to subjects who are gene non-expanded (GNE). Changes in brain structure and/or function in the GE group compared to the GNE group would lend support to the notion that this disease has an important developmental component.

Details
Condition Huntington's Disease
Clinical Study IdentifierNCT01860339
SponsorPeggy C Nopoulos
Last Modified on15 May 2022

Eligibility

Yes No Not Sure

Inclusion Criteria

Family history of Huntington's Disease
Age 6-30 years
Age-appropriate knowledge of HD and personal risk

Exclusion Criteria

Metal in body, including braces
History of head trauma, brain tumor, seizures, epilepsy
History of major surgery and/or significant ongoing medical issue(s)
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