Longitudinal Studies Among At-Risk HD Gene Carriers

Project: Research project

Description

DESCRIPTION: (provided by applicant) To identify and quantify changes among
presymptomatic Huntington disease gene carriers who had not yet developed
definite chorea, we performed the largest, study of individuals at-risk for HD
(n=657) Subtle abnormalities in oculomotor, extrapyramidal and pyramidal motor,
and cognitive measures were identified.
We propose to reexamine this unique sample of at-risk individuals using an
expanded test battery that includes more sensitive and specific quantitative
measures for each subset of variables for which significant differences between
presymptomatic gene carriers and nongene carriers were initially observed.
These new measures increase the power of our proposed longitudinal studies of
the rate of change among presymptomatic gene carriers as they approach the
manifestation of clinically diagnosable HD. These novel studies are designed
to:
1) Further delineate the deficits observed in the subclinical and early
symptomatic phase of disease;
2) measure the rate of increasing abnormality among presymptomatic gene
carriers;
3) investigate the interrelationships among the variables so as to identify
measures with similar rates of deterioration, which might suggest common
pathways affected early in the disease process;
4) quantify the relationship of CAG repeat number with disease onset and
progression.
The results of these studies will improve the understanding of the
presymptomatic and early symptomatic phase of HD allowing for earlier diagnosis
and identify subclinical biomarkers that can be utilized in clinical trials to
evaluate therapeutic agents designed to slow progression and delay the onset of
clinical HD.
StatusFinished
Effective start/end date4/1/023/31/08

Funding

  • National Institutes of Health: $472,889.00
  • National Institutes of Health: $441,751.00
  • National Institutes of Health: $412,338.00
  • National Institutes of Health: $409,084.00
  • National Institutes of Health: $470,058.00

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Longitudinal Studies
Genes
Chorea
Huntington Disease
Biomarkers
Clinical Trials
Therapeutics
Power (Psychology)

ASJC

  • Medicine(all)
  • Neuroscience(all)