Clinical Trial: Growth and Development of the Striatum in Huntington's Disease

Study Status: Recruiting
Recruit Status: Recruiting
Study Type: Observational

Official Title: Growth and Development of the Striatum in Huntington's Disease

Brief 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 6-18) 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, physical and neurologic evaluation, behavioral assessment, and quantitative craniofacial structure assessment. Subjects that are gene-expanded (GE) will be compared to subjects who are gene non-expanded (GNE

Detailed Summary:
Sponsor: University of Iowa

Current Primary Outcome: Volume of brain structures as measured by Magnetic Resonance Imaging (MRI) [ Time Frame: 6-7 hour testing day ]

Magnetic Resonance Imaging (MRI) and Diffusion Tensor Imaging (DTI) data will be analyzed to assess brain structure based upon variables including global volume, total cerebral spinal fluid, subregion volumes, cortical surface anatomy including cortical depth, surface area and gyral shape, and symmetry between brain hemispheres, all in consideration of age, gender, and height. Results will be evaluated for comparative differences between the GE group, the GNE group, and the healthy control group. In addition, these measures of brain structure will be paired with corresponding measures of brain function to evaluate brain development based upon growth and performance.


Original Primary Outcome: Volume of brain structures as measured by Magnetic Resonance Imaging (MRI) [ Time Frame: Participant age of 6-18 years ]

Assessments of brain structure and function during developmental years will be evaluated for comparative differences between the GE group, the GNE group, and the healthy control group.


Current Secondary Outcome: Quantitative assessment of cognitive skills and motor skills [ Time Frame: 6-7 hour testing day ]

Participants undergo a cognitive battery which will quantify skills such as attention, learning, memory. In addition, motor skill (both fine and gross) will be assessed and quantified. Results will be analyzed for comparative differences between the GE group, the GNE group, and the healthy control group. In addition, these measures of brain function will be paired with appropriate measures of brain structure to evaluate brain development based upon growth and performance.


Original Secondary Outcome: Quantitative assessment of cognitive skills and motor skills [ Time Frame: Participant age 6-18 years ]

Subject undergo a cognitive battery which will quantify skills such as attention, learning, memory. In addition, motor skill (both fine and gross) will be assessed and quantified.


Information By: University of Iowa

Dates:
Date Received: May 16, 2013
Date Started: July 2005
Date Completion:
Last Updated: May 11, 2016
Last Verified: May 2016