Frequency of Selected Single Nucleotide Polymorphisms in Huntington Disease Gene Expansion Carriers

July 24, 2026 updated by: Hoffmann-La Roche

Frequency of Selected Single Nucleotide Polymorphisms in Phase With the Mutant and Wild-Type HTT Alleles in Huntington Disease Gene Expansion Carriers

For participation in this epidemiological study, a single-day visit at the study site is required. Participants will be recruited from Huntington Disease clinics, and they will be asked to answer questions regarding their demographics, including sex, age, race and ethnicity, and their medical and medication history. At the end of the visit, a blood sample will be drawn to allow testing with a sequencing assay that is specifically designed for phasing single nucleotide polymorphisms (SNPs) on the wild-type Huntington (wtHTT) and mutant Huntington (mHTT) alleles.

Study Overview

Status

Status

Indicates the current recruitment status or the expanded access status.
Completed

Conditions

Conditions

The disease, disorder, syndrome, illness, or injury that is being studied. On ClinicalTrials.gov, conditions may also include other health-related issues, such as lifespan, quality of life, and health risks.

Study Type

Study Type

Describes the nature of a clinical study. Study types include interventional studies (also called clinical trials), observational studies (including patient registries), and expanded access.
Observational

Enrollment (Actual)

Enrollment

The number of participants in a clinical study. The "anticipated" enrollment is the target number of participants that the researchers need for the study.
574

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact

The name and contact information for the person who can answer enrollment questions for a clinical study. Each location where the study is being conducted may also have a specific contact, who may be better able to answer those questions.
  • Name: Fastest response: use the inquiry form. https://www.gene.com/contact-us/submit-medical-inquiry

Study Contact Backup

Study Locations

  • Argentina
      • Ciudad Autonoma Buenos Aires, Argentina, C1284AEB
        • Hospital Británico de Buenos Aires
  • Australia
    • New South Wales
      • Caulfield South, New South Wales, Australia, 3162
        • Calvary Health Care Bethlehem
      • Westmead, New South Wales, Australia, 2145
        • Westmead Hospital
    • Victoria
      • Parkville, Victoria, Australia, 3050
        • Royal Melbourne Hospital
    • Western Australia
      • Mount Claremont, Western Australia, Australia, 6010
        • Graylands Hospital
  • Canada
    • Alberta
      • Edmonton, Alberta, Canada, T6G 2G3
        • University of Alberta
    • British Columbia
      • Vancouver, British Columbia, Canada, V6T 2B5
        • University of British Columbia Hospital
    • Nova Scotia
      • Halifax, Nova Scotia, Canada, B3S 1N2
        • Centricity Research
    • Ontario
      • Toronto, Ontario, Canada, M2J 1V1
        • North York General Hospital
    • Quebec
      • Montreal, Quebec, Canada, H3A 2B4
        • McGill University
  • Denmark
      • København Ø, Denmark, 2100
        • Rigshospitalet, Hukommelsesklinikken
  • Germany
      • Berlin, Germany, 10117
        • Charité - Universitätsmed. Berlin, Klinik für Psychiatrie und Psychotherapie
      • Bochum, Germany, 44791
        • St. Josef-Hospital, Neurologische Klinik der Ruhr-Uni
      • Erlangen, Germany, 91054
        • Universitätsklinikum Erlangen, Abteilung Molekulare Neurologie
      • Ulm, Germany, 89081
        • Universitätsklinikum Ulm
  • Italy
    • Lombardy
      • Milan, Lombardy, Italy, 20133
        • Fondazione IRCCS Istituto Neurologico Carlo Besta
    • Tuscany
      • Florence, Tuscany, Italy, 50134
        • Università degli studi di Firenze
  • New Zealand
      • Auckland, New Zealand
        • Auckland DHB - Neurlogy Department
      • Christchurch, New Zealand, 8011
        • New Zealand Brain Research Institute
      • Wellington, New Zealand, 6021
        • Wellington Hospital
  • Poland
      • Gda?sk, Poland, 80-462
        • Szpital Sw. Wojciecha
      • Warsaw, Poland, 01-755
        • Wojskowy Instytut Medycyny Lotniczej
  • Portugal
      • Lisbon, Portugal, 1649-035
        • Unidade Local de Saúde de Santa Maria, E.P.E. - Hospital de Santa Maria
      • Torres Vedras, Portugal, 2560-280
        • CNS - Campus Neurológico
  • Spain
      • Badajoz, Spain, 06080
        • Hospital Universitario de Badajoz
      • Barcelona, Spain, 08041
        • Hospital de La Santa Creu i Sant Pau
      • Burgos, Spain, 09006
        • Hospital Universitario de Burgos. Servicio de Neurología
      • Madrid, Spain, 28034
        • Hospital Ramon y Cajal
  • United Kingdom
      • Birmingham, United Kingdom, B16 8PF
        • Birmingham and Solihull Mental Health Foundation NHS Trust
      • Cambridge, United Kingdom, CB2 0QQ
        • Addenbrookes Hospital
      • London, United Kingdom, WC1N 3BG
        • National Hospital For Neurology and Neurosurgery
      • Oxford, United Kingdom, OX3 9DU
        • John Radcliffe Hospital
  • United States
    • Alabama
      • Birmingham, Alabama, United States, 35294
        • Uab Medicine
    • Arizona
      • Phoenix, Arizona, United States, 85013
        • Barrow Neurological Institute
    • California
      • La Jolla, California, United States, 92037-1337
        • University of California San Diego
      • Sacramento, California, United States, 95817
        • University of California Davis Medical System
    • Colorado
      • Englewood, Colorado, United States, 80113
        • CenExel Rocky Mountain Clinical Research, LLC
    • Florida
      • Tampa, Florida, United States, 33612
        • University of South Florida
    • Illinois
      • Chicago, Illinois, United States, 60611
        • Northwestern University
    • Iowa
      • Iowa City, Iowa, United States, 52242
        • University of Iowa Hospitals and Clinics
    • Maryland
      • Baltimore, Maryland, United States, 21287
        • John Hopkins University School of Medicine
    • Massachusetts
      • Boston, Massachusetts, United States, 02215
        • Beth Israel Deaconess Medical Center
    • Pennsylvania
      • Pittsburgh, Pennsylvania, United States, 15213
        • University of Pittsburgh
    • Tennessee
      • Nashville, Tennessee, United States, 37212
        • Vanderbilt University Medical Center
    • Washington
      • Kirkland, Washington, United States, 98034
        • EvergreenHealth Investigational Drug Services

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Eligibility Criteria

The key requirements that people who want to participate in a clinical study must meet or the characteristics they must have. Eligibility criteria consist of both inclusion criteria (which are required for a person to participate in the study) and exclusion criteria (which prevent a person from participating). Types of eligibility criteria include whether a study accepts healthy volunteers, has age or age group requirements, or is limited by sex.

Ages Eligible for Study

  • Adult

Accepts Healthy Volunteers

No

Sampling Method

Non-Probability Sample

Study Population

This epidemiological study will be conducted in ambulatory men and women aged 25 to 60 years old (inclusive) who carry the Huntington Disease (HD) gene expansion and meet the Unified Huntington's Disease Rating Scale (UHDRS) Total Motor Score (TMS) and Total Functional Capacity (TFC) criteria for HD Integrated Staging System (HD-ISS) Stages 2-3.

Description

Inclusion Criteria:

  • Have signed the Informed Consent Form (ICF)
  • Aged 25 to 60 years, inclusive, at the time of signing the ICF
  • Confirmation of Huntington Disease (HD) gene expansion mutation carrier status
  • Confirmation of Total Functional Capacity (TFC) ≥9 and Total Motor Score (TMS) >6 within 12 months prior to signing the ICF
  • Ability to tolerate blood draws

Exclusion Criteria:

  • None

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Cohorts and Interventions

Group / Cohort

Group / Cohort

A group or subgroup of participants in an observational study that is assessed for biomedical or health outcomes.
Participants Who Are Huntington Disease Gene Expansion Carriers

What is the study measuring?

Primary Outcome Measures

Primary Outcome Measures

In a clinical study's protocol, the planned outcome measure that is the most important for evaluating the effect of an intervention/treatment. Most clinical studies have one primary outcome measure, but some have more than one.
Outcome Measure
Time Frame
Frequencies of Selected Single Nucleotide Polymorphism (SNP) Alleles in Phase With the mHTT and wtHTT Alleles
Time Frame: Day 1
Day 1

Secondary Outcome Measures

Secondary Outcome Measures

In a clinical study's protocol, a planned outcome measure that is not as important as the primary outcome measure for evaluating the effect of an intervention but is still of interest. Most clinical studies have more than one secondary outcome measure.
Outcome Measure
Time Frame
Number of Participants With Selected SNPs According to Their Medical History
Time Frame: Day 1
Day 1
Number of Participants With Selected SNPs According to Their Medication History
Time Frame: Day 1
Day 1
Number of Participants With Selected SNPs According to Their Demographic Characteristics (Age, Sex, Ethnicity, and Race)
Time Frame: Day 1
Day 1

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Sponsor

The organization or person who initiates the study and who has authority and control over the study.
Hoffmann-La Roche

Investigators

Investigators

A researcher involved in a clinical study. Related terms include site principal investigator, site sub-investigator, study chair, study director, and study principal investigator.
  • Study Director: Clinical Trials, Hoffmann-La Roche

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

Helpful Links

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

Study Start

The actual date on which the first participant was enrolled in a clinical study. The "anticipated" study start date is the date that the researchers think will be the study start date.
September 2, 2024

Primary Completion (Actual)

Primary Completion

The date on which the last participant in a clinical study was examined or received an intervention to collect final data for the primary outcome measure. Whether the clinical study ended according to the protocol or was terminated does not affect this date. For clinical studies with more than one primary outcome measure with different completion dates, this term refers to the date on which data collection is completed for all the primary outcome measures. The "anticipated" primary completion date is the date that the researchers think will be the primary completion date for the study.
July 3, 2026

Study Completion (Actual)

Study Completion

The date on which the last participant in a clinical study was examined or received an intervention/treatment to collect final data for the primary outcome measures, secondary outcome measures, and adverse events (that is, the last participant's last visit). The "anticipated" study completion date is the date that the researchers think will be the study completion date.
July 3, 2026

Study Registration Dates

First Submitted

First Submitted

The date on which the study sponsor or investigator first submitted a study record to ClinicalTrials.gov. There is typically a delay of a few days between the first submitted date and the record's availability on ClinicalTrials.gov (the first posted date).
October 30, 2024

First Submitted That Met QC Criteria

First Submitted That Met QC Criteria

The date on which the study sponsor or investigator first submits a study record that is consistent with National Library of Medicine (NLM) quality control (QC) review criteria. The sponsor or investigator may need to revise and submit a study record one or more times before NLM's QC review criteria are met. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
October 30, 2024

First Posted (Actual)

First Posted

The date on which the study record was first available on ClinicalTrials.gov after National Library of Medicine (NLM) quality control (QC) review has concluded. There is typically a delay of a few days between the date the study sponsor or investigator submitted the study record and the first posted date.
October 31, 2024

Study Record Updates

Last Update Posted (Actual)

Last Update Posted

The most recent date on which changes to a study record were made available on ClinicalTrials.gov. There may be a delay between when the changes were submitted to ClinicalTrials.gov by the study's sponsor or investigator (the last update submitted date) and the last update posted date.
July 28, 2026

Last Update Submitted That Met QC Criteria

Last Update Submitted That Met QC Criteria

The most recent date on which the study sponsor or investigator submitted changes to a study record that are consistent with National Library of Medicine (NLM) quality control (QC) review criteria. It is the responsibility of the sponsor or investigator to ensure that the study record is consistent with the NLM QC review criteria.
July 24, 2026

Last Verified

Last Verified

The most recent date on which the study sponsor or investigator confirmed the information about a clinical study on ClinicalTrials.gov as accurate and current. If a study with a recruitment status of recruiting; not yet recruiting; or active, not recruiting has not been confirmed within the past 2 years, the study's recruitment status is shown as unknown.
July 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID Numbers

Other Study ID Numbers

Identifiers or ID numbers other than the NCT number that are assigned to a clinical study by the study's sponsor, funders, or others. These numbers may include unique identifiers from other trial registries and National Institutes of Health grant numbers.
  • WE45491

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

NO

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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