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

May 27, 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

Recruiting

Conditions

Study Type

Observational

Enrollment (Estimated)

600

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 Backup

  • Name: Fastest response: use the inquiry form. No email attachments. https://www.gene.com/contact-us/submit-medical-inquiry

Study Locations

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

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
Participants Who Are Huntington Disease Gene Expansion Carriers

What is the study measuring?

Primary Outcome Measures

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

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

Hoffmann-La Roche

Investigators

  • 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)

September 2, 2024

Primary Completion (Estimated)

February 28, 2027

Study Completion (Estimated)

February 28, 2027

Study Registration Dates

First Submitted

October 30, 2024

First Submitted That Met QC Criteria

October 30, 2024

First Posted (Actual)

October 31, 2024

Study Record Updates

Last Update Posted (Actual)

May 29, 2026

Last Update Submitted That Met QC Criteria

May 27, 2026

Last Verified

May 1, 2026

More Information

Terms related to this study

Additional Relevant MeSH Terms

Other Study ID 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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