Huntington Disease
Conditions
Keywords
Huntington's disease, Huntington disease, HD
Brief summary
The purpose of this trial is to study early brain and behavioral changes in people who have the gene expansion for Huntington's disease, but are currently healthy and have no symptoms.
Detailed description
Huntington's Disease (HD) is an inherited disease that causes changes in a person's ability to control movements, thinking, and feelings. The intent of this study is to learn more about the beginning changes in thinking skills, emotional regulation, and brain structure and function as a person begins the transition from health to HD. Preliminary studies indicate that people with HD may have marked decline before an actual diagnosis. This study will help reveal the earliest indicators of the disease and what factors influence the age at which a person carrying the gene develops the disease. It is necessary to get information on the early stages of HD in order to develop drugs that can slow or postpone the onset of HD. The investigators hope this study will provide essential information for future trials of experimental drugs for HD. During this study, participants will undergo several detailed tests, including MRI scans of the brain, cognitive assessments, physical exams, bio specimen (blood, urine, cerebral spinal fluid) collection and neurological and psychiatric testing.
Interventions
None listed
Sponsors
National Institute of Neurological Disorders and Stroke (NINDS)
Jordan Schultz
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* men and women at risk for HD, who have been tested for the HD gene mutation, and who have not been diagnosed with symptoms of HD (CAG ≥36 for CAG-expanded group or CAG \<36 for CAG-norm group).
Exclusion criteria
* diagnosis of manifest HD (at least 50% confidence by neurologist that symptoms are present); * clinical evidence of unstable medical or psychiatric illness (including substance abuse); * history of sever learning disability or mental retardation; * history of other CNS disease or event (e.g., seizures or head trauma); * current treatment with antipsychotic medications, including the traditional neuroleptics such as haloperidol as well as the atypical antipsychotics risperidone, clozapine, quetiapine, and olanzapine; * treatment with phenothiazine-derivative antiemetic medications such as prochlorperazine, metoclopramide, promethazine, and Inapsine on a regular basis (greater than 3 times per month); Specific
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Refine the prediction of disease diagnosis (motor conversion) | One year | HD diagnosis will be better predicted by adding longitudinal change to the baseline measures of striatal and white matter volumes, tone-paced and speeded tapping score, stroop interference and motor score. |
| Characterize disease progression prior to diagnosis. | One year | Document change scores for each marker using its slope. Comparisons of change rates across time will suggest measures best suited to clinical trials by large effect sizes and low variability. |
| Establish possible validity and reliability of disease measures. | One year | This will require that we continuously analyze recently collected data, remove items that are insensitive, and add new items to be tested throughout the course of the study. The power and sensitivity of future multi-site trials and studies depend on accurate measures of marker validity. HD diagnosis will be better predicted by UHDRS total motor score following new standardized reliability training and by the tapping task under modified more challenging, conditions. Psychiatric and functional ratings will be improved with item response analyses and dynamic piloting of item edits to establish the most psychometrically sound items for clinical trials. |
Other
| Measure | Time frame | Description |
|---|---|---|
| Cerebral spinal fluid containing unique biomarker signatures. | One year | Lumbar puncture is conducted at the University of Iowa |
| Cerebral spinal fluid biomarker changes correlating with HD progression. | One year | Lumbar puncture is conducted at the University of Iowa |
Countries
United States
Outcome results
None listed