Purpose

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.

Condition

Eligibility

Eligible Ages
Between 6 Years and 30 Years
Eligible Genders
All
Accepts Healthy Volunteers
Yes

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)

Study Design

Phase
Study Type
Observational
Observational Model
Case-Control
Time Perspective
Cross-Sectional

Arm Groups

ArmDescriptionAssigned Intervention
Gene-expanded (GE) Children at risk for HD who have a CAG repeat length of 40 and above.
Gene Non-Expanded (GNE) Children at risk for HD who have a CAG repeat length of 39 or less

Recruiting Locations

University of Texas Health Science Center at Houston
Houston, Texas 77030
Contact:
Jamie Sims, BS
713-500-7763
jamie.sims@uth.tmc.edu

More Details

Status
Recruiting
Sponsor
Peggy C Nopoulos

Study Contact

Study Staff
866-514-0858
kids-hd@uiowa.edu

Notice

Study information shown on this site is derived from ClinicalTrials.gov (a public registry operated by the National Institutes of Health). The listing of studies provided is not certain to be all studies for which you might be eligible. Furthermore, study eligibility requirements can be difficult to understand and may change over time, so it is wise to speak with your medical care provider and individual research study teams when making decisions related to participation.