An observational study in Huntington Disease, sponsored by University of Wisconsin, Madison. Completed at 1 site in United States. Open to participants aged 18 Years to 80 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2025-03-18.
Sponsored by University of Wisconsin, Madison · Observational
This is a prospective investigation which aims to address key challenges to the design of clinical trials to prevent the onset of Huntington's disease (HD). The project will provide necessary psychometric data for clinical outcome assessments (COAs) and biomarkers (BMs) in the cerebral spinal fluid (CSF) to address questions of central importance to the success of these measures for premanifest clinical trials. Of the 258 participants: 52 will be low risk of motor diagnosis, 102 high risk of motor diagnosis, 52 with diagnosed HD (stages I or II), and 52 healthy controls. Participants can expect to be in the study for up to 2 years.
This is a prospective investigation which aims to address key challenges to the design of clinical trials to prevent the onset of Huntington's disease (HD). The project will provide necessary psychometric data for clinical outcome assessments (COAs) and biomarkers (BMs) in the cerebral spinal fluid (CSF) to address questions of central importance to the success of this measure for premanifest clinical trials such as:
Answers to these questions will better position the field to more effectively test new interventions to prevent HD such as gene therapies and new drugs.
Neurocognitive, motor and behavioral data, blood, CSF, and genetic samples, and MRI measures will be collected from 258 participants at baseline. Of the 258 participants: 52 will be low risk of motor diagnosis, 102 high risk of motor diagnosis, 52 with diagnosed HD (stages I or II), and 52 healthy controls. Neurocognitive and behavioral data, blood and CSF samples, and MRI will be repeated 2 years (18-24 months) after the baseline visit. Remote assessments of clinical outcome measures (neurocognitive, motor and behavioral data) will be conducted as needed.
Specific Study Aims and Methods
Aim 1: To evaluate Clinical Outcome Assessments (COAs) currently being used in premanifest HD. In accordance with the FDA, all types of COAs (a) Clinician-reported; (b) Observer-reported; (c) Patient-reported; and (d) Performance-based outcomes will be evaluated as appropriate for each phenotypic domain (motor, cognitive, psychiatric/behavioral, functional activity, quality of life). Specific outcomes of this aim will follow those recommended by the FDA including:
Aim 2: To assess the psychometric properties of various biomarkers obtained from cerebral spinal fluid when compared between groups (premanifest HD, HD, NC) and over time (baseline and 2 years). Specific outcomes of this aim will include:
285 studies on the registry are indexed under Huntington Disease; 49 are open to participants now.
This study's enrollment of 258 is above the median of 90 across 78 observational studies indexed under Huntington Disease.
Browse Huntington Disease studies →University of Wisconsin, Madison is the lead sponsor of 1,161 studies on the registry; 182 are open to participants now.
Of its 151 completed or terminated interventional studies of FDA-regulated products, 114 (75%) have results posted.
Counted across the registry records on this site, refreshed daily.
At baseline 258 male and female participants between the ages of 18 and 80 years will be enrolled in the study. Of the 258: 52 will be low risk of motor diagnosis, 102 high risk of motor diagnosis, 52 with diagnosed HD (stages I or II), and 52 age-, ethnicity-, and education-matched healthy controls.
Inclusion Criteria for HD Participants:
Inclusion Criteria for Healthy Controls (HC):
Exclusion Criteria (for all Participants):
Approximately 52 participants who have a low probability of motor diagnosis based on the multivariate risk score.
Other: Clinical Assessments · Diagnostic Test: MRI Scan · Diagnostic Test: Lumber Puncture (LP)
Approximately 102 participants who have a high probability of motor diagnosis based on the multivariate risk score.
Other: Clinical Assessments · Diagnostic Test: MRI Scan · Diagnostic Test: Lumber Puncture (LP)
Approximately 52 participants who are living with diagnosed stage I or stage II Huntington's Disease.
Other: Clinical Assessments · Diagnostic Test: MRI Scan · Diagnostic Test: Lumber Puncture (LP)
Approximately 52 participants who are age-, ethnicity-, and education-matched healthy controls.
Other: Clinical Assessments · Diagnostic Test: MRI Scan · Diagnostic Test: Lumber Puncture (LP)
A neurological evaluation will be administered to all participants at baseline, 1 year and 2 year follow-up visits. Motor exams and premorbid IQ assessments will be video-recorded for rater reliability assessments conducted randomly throughout the research project.
At baseline and 2 year follow-up all participants will undergo a 60-minute 3T MRI scanning session which will consist of measures of the volume of brain tissue and cerebral spinal fluid, as well as connections in the brain measuring water pathways and pictures of the brain active and at rest.
Participants will be asked to complete a LP at both onsite study visits (baseline and 2 year follow-up). Blood collection following the procedure will consist of about 80mL and will be stored at a repository for biomarker analysis.
Unified Huntington's Disease Rating Scale (UHDRS) Diagnostic Confidence Level
UHDRS Motor Diagnosis of HD Diagnostic Confidence Level is a clinical rating of how confident the movement disorder specialist is that the person has manifest HD with over 99% confidence; scale is 0-4 where 0 is 'normal' and 4 is the highest motor dysfunction.
Time frame: baseline
Unified Huntington's Disease Rating Scale (UHDRS) Diagnostic Confidence Level
UHDRS Motor Diagnosis of HD Diagnostic Confidence Level is a clinical rating of how confident the movement disorder specialist is that the person has manifest HD with over 99% confidence; scale is 0-4 where 0 is 'normal' and 4 is the highest motor dysfunction.
Time frame: 1 years
Unified Huntington's Disease Rating Scale (UHDRS) Diagnostic Confidence Level
UHDRS Motor Diagnosis of HD Diagnostic Confidence Level is a clinical rating of how confident the movement disorder specialist is that the person has manifest HD with over 99% confidence; scale is 0-4 where 0 is 'normal' and 4 is the highest motor dysfunction.
Time frame: 2 years
Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score
UHDRS Total Motor Score is a 31-item instrument each item scored on a scale of 0-4 where 0 is 'normal' and 4 is the highest motor dysfunction. Total possible range of scores is 0-124.
Time frame: baseline
Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score
UHDRS Total Motor Score is a 31-item instrument each item scored on a scale of 0-4 where 0 is 'normal' and 4 is the highest motor dysfunction. Total possible range of scores is 0-124.
Time frame: 1 year
Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score
UHDRS Total Motor Score is a 31-item instrument each item scored on a scale of 0-4 where 0 is 'normal' and 4 is the highest motor dysfunction. Total possible range of scores is 0-124.
Time frame: 2 years
Unified Huntington's Disease Rating Scale (UHDRS) Total Functional Capacity
UHDRS Total Functional Capacity is a clinician-rating scale of independence in activities of daily living. 13 is fully functioning and any drop in points in noted during pre-diagnosed HD.
Time frame: baseline
Unified Huntington's Disease Rating Scale (UHDRS) Total Functional Capacity
UHDRS Total Functional Capacity is a clinician-rating scale of independence in activities of daily living. 13 is fully functioning and any drop in points in noted during pre-diagnosed HD.
Time frame: 1 year
Unified Huntington's Disease Rating Scale (UHDRS) Total Functional Capacity
UHDRS Total Functional Capacity is a clinician-rating scale of independence in activities of daily living. 13 is fully functioning and any drop in points in noted during pre-diagnosed HD.
Time frame: 2 years
CANTAB composite score
The Cambridge automated neuropsychological test battery (CANTAB) has a range of scores and will be summed across tasks for a composite. Higher scores will indicate better cognitive processing.
Time frame: baseline, 1 year, 2 years
Cognitive Assessment Battery (CAB) Composite Score
The CAB has a range of scores with higher scores indicative of better cognitive functions and a summed composite of the battery will be used as an outcome.
Time frame: baseline, 1 year, 2 years
Tablet Cognitive Assessment Total (TabCat) Score
The TabCat scores range across multiple tasks and the outcome will be a summed composite score across all cognitive tasks. Higher scores will indicate better cognitive processing.
Time frame: baseline, 1 year, 2 years
Problem Behavior Assessment - short form (PBA) Score
The PBA is an 11-item semi-structured instrument to assess the frequency and severity of behavioral symptoms of HD. Higher scores indicate increased severity and frequency of symptoms.
Time frame: baseline, 1 year, 2 years
Exploratory Measure: Cerebral Spinal Fluid Biomarker (BM) Assessment
CSF will be processed at external labs for potential biomarkers of abnormality. CSF will be analyzed for Neurofilament light and mutant HTT.
Time frame: baseline, 1 year, 2 years
Imaging BM measured via MRI
MRI Biomarker will be the standardized volume of the basal ganglia.
Time frame: baseline, 1 year, 2 years
Documents are hosted by the registry — open the source record to download them.
Plan to share: Yes — All clinical research data collected as part of this study is also stored in the NIH database for genotype and phenotypes (dbGaP) and the NIH National Data Archives for sharing with approved researchers worldwide. dbGaP provides two levels of access - open and controlled - in order to allow broad release of non-sensitive data, while providing oversight and investigator accountability for sensitive data sets involving personal health information. Summaries of studies and the contents of measured variables as well as original study document text are generally available to the public, while access to individual-level data including phenotypic data tables and genotypes require varying levels of authorization.
Supporting information: Study protocol
This study is completed, as verified in Mar 2025. You cannot join it, but the record below documents what was studied.
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University of Wisconsin, Madison