Huntington DiseasePREVENT-HDNCT04818060
Preparing for Prevention of Huntington's Disease (PREVENT-HD)
An observational study of Huntington Disease, run by University of Wisconsin, Madison at 1 site in United States.
Trial summary
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… Read more about this study
- Who is it for?
- Ages 18 to 80 yearsHealthy volunteers can take part
- Conditions the study is for
- Huntington Disease
- What is being tested?
- Clinical Assessments, MRI Scan and Lumber Puncture (LP)
- How many people
- 258 participants
- Where
- 1 siteUnited States
- Study dates
- 13 Sep 2021to 31 Jan 2025
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 80 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: 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.
Who may be able to join
- Estimated at low or high probability of motor diagnosis based on the multivariate risk score (MRS)
- Willing to commit to two in-person assessment visits (baseline and 2-year follow-up) and remote assessments as needed
- No active comorbidities (i.e. receiving stable treatment)
- All medications will be allowed although the protocol will mandate documentation of medications and analyses will particularly assess potential impact of medications on outcomes (i.e., sedation of abnormal movements)
- If previously measured, CAG results must be 36 or above (previous CAG is not a requirement, but this threshold will be upheld for those participants who have their CAG scores and/or have them in their medical record).
- Willing to commit to two in-person assessment visits (baseline and 2-year follow-up) and remote assessments as needed
Show all 9Show fewer
- In generally good health
- IQ > 70
- Able to undergo an MRI scan
Who cannot join
- Evidence of unstable medical or psychiatric illness (including substance abuse)
- History of severe learning disability, mental retardation, or other central nervous system (CNS) disease or event (e.g., seizures, head trauma, additional neurological diagnoses)
- Treatment with phenothiazine-derivative antiemetic medications such as prochlorperazine, metoclopramide, promethazine and Inapsine greater than 3 times per month
- History of serious alcohol or drug abuse within the past year
- Unable (determined by patient's prescribing doctor) to not take tryptophan, leucine, niacin or niacinamide-containing dietary supplements, anti-inflammatory medications, anti-coagulants (such as warfarin and heparin) or anti-platelets (such as aspirin) in the past 14 days to assure safety during lumbar puncture
- Unable to fast (no food or drink, only water) overnight before the lumbar puncture
Trial locations and contacts
1 site in 1 country.
About this study
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.
Read the detailed description
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:
- How reliable the measure is in the same person when repeated over time;
- how reliable the measure is in the same person when analyzed by two different labs/sites;
- how well the measure reflects disease symptoms;
- how well the measure predicts meaningful disease outcomes;
- how well the measure tracks disease progression or severity; AND
- how many research subjects are required to test that an intervention is delaying/slowing the onset of HD?
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:
- a) Cross-sectional evaluation (critical for sample selection) of currently used COA instruments according to the following recommended criteria: mode of administration; format and scoring criteria; content validity; internal consistency reliability; test-retest reliability; floor and ceiling effects; construct validity; convergent validity; and strength of each COA expressed in terms of effect sizes.
- b) Longitudinal evaluation (critical for endpoint selection and responsiveness) of each COA to detect change using effect sizes across the premanifest and early HD disease continuum with documentation of the responder definition(s) of construct validity.
- c) Identification and documentation of the context of use (COU) and concept of interest (COI) for clinical trials in premanifest HD to position available COAs within a preliminary conceptual model.
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:
- a) CSF mHTT collected at baseline and 2 years in 100 premanifest HD, 25 diagnosed HD, and 25 healthy controls (HC) will be analyzed (blind to gene status) by two independent labs. Safety, feasibility, cost efficiency, and inter-site reliability will be obtained.
- b) Validity of CSF mutant huntingtin (mHTT) will be examined in HD groups for association with cross-sectional and longitudinal (a) phenotypic severity and decline using measures of the primary triad of clinical manifestation and progression (motor, cognitive, psychiatric/behavioral); (b) meaningful clinical outcome measures such as diagnosis in premanifest subjects and patient-reported outcomes, functional capacity and disability in all HD patients; and (c) available disease burden measures calculated as the product of Cytosine-Adenine-Guanine (CAG) repeat length and current age (considered a reflection of genetic toxicity by time survived; AKA disease burden). The investigators hypothesize that the candidate biomarkers will show appropriate association reflecting concurrent and predictive validity (types of criterion-related validity) with the most widespread "benchmarks" of HD phenotype, the Unified HD Rating Scale in diagnosed and advanced prodromal HD. Data from this Aim will immediately inform the interpretation of ongoing clinical trials that show biomarker levels in "some", but not "all", premanifest. Although it is unknown whether the biomarkers will demonstrate any predictive validity or concurrent validity for the entire premanifest HD group, data will immediately be useful to develop an evidence threshold for when in the premanifest HD prodrome, the biomarker will be detectable and tracked over time. The evidence threshold is immediately useful to the design of disease modifying trials in HD, particularly when the paramount goal is to prevent diagnosis, or manifestation.
- c) Biological criterion-related validity for biomarkers will be examined in HD groups for association with (a) microglial biomarkers; (b) inflammatory biomarkers; (c) neuronal death biomarkers; and (d) mHTT HD-specific protein. The investigators hypothesize that mHTT will show detection at the earliest point in the prodrome, followed by microglial markers, then inflammatory markers and, finally, neuron death markers in diagnosed HD.
- Conditions
- Huntington Disease
- Being tested
- Clinical Assessments, MRI Scan, Lumber Puncture (LP)
- Keywords
- biomarkers, premanifest HD, early diagnosis, motor impairment
- Medical subject headings
- Huntington Disease, Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Clinical AssessmentsOther
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.
MRI ScanDiagnostic test
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.
Lumber Puncture (LP)Diagnostic test
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.
| Study group | Role | What they receive |
|---|---|---|
| Low Risk of Motor Diagnosis | Approximately 52 participants who have a low probability of motor diagnosis based on the multivariate risk score. Receives: Other: Clinical Assessments; Diagnostic Test: MRI Scan; Diagnostic Test: Lumber Puncture (LP) | |
| High Risk of Motor Diagnosis | Approximately 102 participants who have a high probability of motor diagnosis based on the multivariate risk score. Receives: Other: Clinical Assessments; Diagnostic Test: MRI Scan; Diagnostic Test: Lumber Puncture (LP) | |
| Stage I or II Huntington's Disease | Approximately 52 participants who are living with diagnosed stage I or stage II Huntington's Disease. Receives: Other: Clinical Assessments; Diagnostic Test: MRI Scan; Diagnostic Test: Lumber Puncture (LP) | |
| Healthy Controls | Approximately 52 participants who are age-, ethnicity-, and education-matched healthy controls. Receives: Other: Clinical Assessments; Diagnostic Test: MRI Scan; Diagnostic Test: Lumber Puncture (LP) |
What is being measured
The primary outcome is the main question the study is designed to answer.
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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: 2 years
Secondary outcomes (4)
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.
Measured: 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.
Measured: 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.
Measured: 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.
Measured: baseline, 1 year, 2 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted26 Mar 2021
- Study start13 Sep 2021
- Primary completion31 Jan 2025
- Study completion31 Jan 2025
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Huntington DiseaseStudies of the same condition, open and under way.
- More trials run by University of Wisconsin, MadisonThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 258 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Wisconsin, Madison
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Jane S Paulsen, PhD, Principal investigator, University of Wisconsin, Madison
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04818060
- Sponsor's protocol ID
- 2020-1175
- Other IDs
- A535100, SMPH/NEUROLOGY/NEUROLOGY, Protocol Version 7/17/2024, 7U01NS105509, 7U01NS103475
- Acronym
- PREVENT-HD
- Status last verified
- Mar 2025
- First submitted
- 15 Mar 2021
- Last updated
- 18 Mar 2025
- Results posted
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- 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.
Study at a glance
From the registry record, last updated by the sponsor on 18 Mar 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Preparing for Prevention of Huntington's Disease (PREVENT-HD)
- ClinicalTrials.gov ID
- NCT04818060
- Acronym / sponsor ID
- PREVENT-HD / 2020-1175
- Conditions
- Huntington Disease
- Keywords
- biomarkers, premanifest HD, early diagnosis, motor impairment
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 258 participants (actual)
- Lead sponsor
- University of Wisconsin, MadisonUniversity, hospital or other
- Collaborators
- National Institute of Neurological Disorders and Stroke (NINDS)
- Study start
- 13 Sep 2021 (actual)
- Primary completion
- 31 Jan 2025 (actual)
- Study completion
- 31 Jan 2025 (actual)
- First posted
- 26 Mar 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Detailed description
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:
- How reliable the measure is in the same person when repeated over time;
- how reliable the measure is in the same person when analyzed by two different labs/sites;
- how well the measure reflects disease symptoms;
- how well the measure predicts meaningful disease outcomes;
- how well the measure tracks disease progression or severity; AND
- how many research subjects are required to test that an intervention is delaying/slowing the onset of HD?
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:
- a) Cross-sectional evaluation (critical for sample selection) of currently used COA instruments according to the following recommended criteria: mode of administration; format and scoring criteria; content validity; internal consistency reliability; test-retest reliability; floor and ceiling effects; construct validity; convergent validity; and strength of each COA expressed in terms of effect sizes.
- b) Longitudinal evaluation (critical for endpoint selection and responsiveness) of each COA to detect change using effect sizes across the premanifest and early HD disease continuum with documentation of the responder definition(s) of construct validity.
- c) Identification and documentation of the context of use (COU) and concept of interest (COI) for clinical trials in premanifest HD to position available COAs within a preliminary conceptual model.
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:
- a) CSF mHTT collected at baseline and 2 years in 100 premanifest HD, 25 diagnosed HD, and 25 healthy controls (HC) will be analyzed (blind to gene status) by two independent labs. Safety, feasibility, cost efficiency, and inter-site reliability will be obtained.
- b) Validity of CSF mutant huntingtin (mHTT) will be examined in HD groups for association with cross-sectional and longitudinal (a) phenotypic severity and decline using measures of the primary triad of clinical manifestation and progression (motor, cognitive, psychiatric/behavioral); (b) meaningful clinical outcome measures such as diagnosis in premanifest subjects and patient-reported outcomes, functional capacity and disability in all HD patients; and (c) available disease burden measures calculated as the product of Cytosine-Adenine-Guanine (CAG) repeat length and current age (considered a reflection of genetic toxicity by time survived; AKA disease burden). The investigators hypothesize that the candidate biomarkers will show appropriate association reflecting concurrent and predictive validity (types of criterion-related validity) with the most widespread "benchmarks" of HD phenotype, the Unified HD Rating Scale in diagnosed and advanced prodromal HD. Data from this Aim will immediately inform the interpretation of ongoing clinical trials that show biomarker levels in "some", but not "all", premanifest. Although it is unknown whether the biomarkers will demonstrate any predictive validity or concurrent validity for the entire premanifest HD group, data will immediately be useful to develop an evidence threshold for when in the premanifest HD prodrome, the biomarker will be detectable and tracked over time. The evidence threshold is immediately useful to the design of disease modifying trials in HD, particularly when the paramount goal is to prevent diagnosis, or manifestation.
- c) Biological criterion-related validity for biomarkers will be examined in HD groups for association with (a) microglial biomarkers; (b) inflammatory biomarkers; (c) neuronal death biomarkers; and (d) mHTT HD-specific protein. The investigators hypothesize that mHTT will show detection at the earliest point in the prodrome, followed by microglial markers, then inflammatory markers and, finally, neuron death markers in diagnosed HD.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Low Risk of Motor Diagnosis | – | Other: Clinical Assessments, Diagnostic Test: MRI Scan, Diagnostic Test: Lumber Puncture (LP)Approximately 52 participants who have a low probability of motor diagnosis based on the multivariate risk score. |
| High Risk of Motor Diagnosis | – | 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. |
| Stage I or II Huntington's Disease | – | 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. |
| Healthy Controls | – | Other: Clinical Assessments, Diagnostic Test: MRI Scan, Diagnostic Test: Lumber Puncture (LP)Approximately 52 participants who are age-, ethnicity-, and education-matched healthy controls. |
Who may qualify
- Ages
- 18 to 80 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- 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.
Key inclusion criteria (9 listed)
- Estimated at low or high probability of motor diagnosis based on the multivariate risk score (MRS)
- Willing to commit to two in-person assessment visits (baseline and 2-year follow-up) and remote assessments as needed
- No active comorbidities (i.e. receiving stable treatment)
- All medications will be allowed although the protocol will mandate documentation of medications and analyses will particularly assess potential impact of medications on outcomes (i.e., sedation of abnormal movements)
- If previously measured, CAG results must be 36 or above (previous CAG is not a requirement, but this threshold will be upheld for those participants who have their CAG scores and/or have them in their medical record).
Key exclusion criteria (6 listed)
- Evidence of unstable medical or psychiatric illness (including substance abuse)
- History of severe learning disability, mental retardation, or other central nervous system (CNS) disease or event (e.g., seizures, head trauma, additional neurological diagnoses)
- Treatment with phenothiazine-derivative antiemetic medications such as prochlorperazine, metoclopramide, promethazine and Inapsine greater than 3 times per month
- History of serious alcohol or drug abuse within the past year
- Unable (determined by patient's prescribing doctor) to not take tryptophan, leucine, niacin or niacinamide-containing dietary supplements, anti-inflammatory medications, anti-coagulants (such as warfarin and heparin) or anti-platelets (such as aspirin) in the past 14 days to assure safety during lumbar puncture
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Clinical AssessmentsA 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. | Other | Healthy Controls, High Risk of Motor Diagnosis, Low Risk of Motor Diagnosis, Stage I or II Huntington's Disease |
| MRI ScanAt 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. | Diagnostic test | Healthy Controls, High Risk of Motor Diagnosis, Low Risk of Motor Diagnosis, Stage I or II Huntington's Disease |
| Lumber Puncture (LP)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. | Diagnostic test | Healthy Controls, High Risk of Motor Diagnosis, Low Risk of Motor Diagnosis, Stage I or II Huntington's Disease |
Primary outcome
Unified Huntington's Disease Rating Scale (UHDRS) Diagnostic Confidence Level
Time frame: baseline
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.
Unified Huntington's Disease Rating Scale (UHDRS) Diagnostic Confidence Level
Time frame: 1 years
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.
Unified Huntington's Disease Rating Scale (UHDRS) Diagnostic Confidence Level
Time frame: 2 years
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.
Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score
Time frame: baseline
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.
Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score
Time frame: 1 year
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.
Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score
Time frame: 2 years
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.
Unified Huntington's Disease Rating Scale (UHDRS) Total Functional Capacity
Time frame: baseline
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.
Unified Huntington's Disease Rating Scale (UHDRS) Total Functional Capacity
Time frame: 1 year
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.
Unified Huntington's Disease Rating Scale (UHDRS) Total Functional Capacity
Time frame: 2 years
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.
4 secondary outcomes
CANTAB composite score
Time frame: baseline, 1 year, 2 years
Cognitive Assessment Battery (CAB) Composite Score
Time frame: baseline, 1 year, 2 years
Tablet Cognitive Assessment Total (TabCat) Score
Time frame: baseline, 1 year, 2 years
Problem Behavior Assessment - short form (PBA) Score
Time frame: baseline, 1 year, 2 years
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 18 Mar 2025.
- Individual participant dataSharing planned: 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.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Jane S Paulsen, PhD principal investigator
University of Wisconsin, Madison
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Huntington Disease, run by University of Wisconsin, Madison at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 9 inclusion and 6 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 18 Mar 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Unified Huntington's Disease Rating Scale (UHDRS) Diagnostic Confidence Level (time frame: baseline). The study lists 9 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 18 Mar 2025.