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

Last updated: May 27, 2026
Sponsor: Hoffmann-La Roche
Overall Status: Active - Recruiting

Phase

N/A

Condition

Dyskinesias

Treatment

N/A

Clinical Study ID

NCT06667414
WE45491
  • Ages 25-60
  • All Genders

Study Summary

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.

Eligibility Criteria

Inclusion

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) >6within 12 months prior to signing the ICF

  • Ability to tolerate blood draws

Exclusion

Exclusion Criteria:

  • None

Study Design

Total Participants: 600
Study Start date:
September 02, 2024
Estimated Completion Date:
February 28, 2027

Connect with a study center

  • Hospital Britanico de Buenos Aires

    Ciudad Autonoma Buenos Aires, C1284AEB
    Argentina

    Completed

  • Calvary Health Care Bethlehem

    Caulfield South, New South Wales 3162
    Australia

    Active - Recruiting

  • WESTMEAD HOSPITAL; Deparment of Neurology

    Westmead, New South Wales 2145
    Australia

    Active - Recruiting

  • Westmead Hospital

    Westmead, New South Wales 2145
    Australia

    Active - Recruiting

  • Royal Melbourne Hospital

    Parkville, Victoria 3050
    Australia

    Active - Recruiting

  • Graylands Hospital

    Mount Claremont, Western Australia 6010
    Australia

    Active - Recruiting

  • University of Alberta

    Edmonton, Alberta T6G 2G3
    Canada

    Active - Recruiting

  • University of British Columbia Hospital

    Vancouver, British Columbia V6T 2B5
    Canada

    Active - Recruiting

  • Centricity Research

    Halifax, Nova Scotia B3S 1N2
    Canada

    Active - Recruiting

  • North York General Hospital

    Toronto, Ontario M2J 1V1
    Canada

    Active - Recruiting

  • McGill University

    Montreal, Quebec H3A 2B4
    Canada

    Active - Recruiting

  • Rigshospitalet, Hukommelsesklinikken

    København Ø, 2100
    Denmark

    Active - Recruiting

  • Charité - Universitätsmed. Berlin, Klinik für Psychiatrie und Psychotherapie

    Berlin, 10117
    Germany

    Active - Recruiting

  • St. Josef-Hospital, Neurologische Klinik der Ruhr-Uni

    Bochum, 44791
    Germany

    Completed

  • Universitätsklinikum Erlangen, Abteilung Molekulare Neurologie

    Erlangen, 91054
    Germany

    Active - Recruiting

  • Universitätsklinikum Ulm

    Ulm, 89081
    Germany

    Active - Recruiting

  • Universitätsklinikum Ulm; Klinik für Neurologie

    Ulm, 89081
    Germany

    Active - Recruiting

  • Fondazione IRCCS Istituto Neurologico Carlo Besta

    Milan, Lombardy 20133
    Italy

    Active - Recruiting

  • Universita Degli Studi Di Firenze

    Florence, Tuscany 50134
    Italy

    Active - Recruiting

  • Auckland DHB - Neurlogy Department

    Auckland,
    New Zealand

    Active - Recruiting

  • Auckland DHB - Neurlogy Department

    Auckland 2193733,
    New Zealand

    Active - Recruiting

  • New Zealand Brain Research Institute

    Christchurch, 8011
    New Zealand

    Completed

  • Wellington Hospital

    Wellington, 6021
    New Zealand

    Active - Recruiting

  • Szpital Sw. Wojciecha

    Gda?sk, 80-462
    Poland

    Active - Recruiting

  • Wojskowy Instytut Medycyny Lotniczej

    Warsaw, 01-755
    Poland

    Active - Recruiting

  • Unidade Local de Saude de Santa Maria, E.P.E. - Hospital de Santa Maria

    Lisbon, 1649-035
    Portugal

    Active - Recruiting

  • CNS - Campus Neurológico

    Torres Vedras, 2560-280
    Portugal

    Completed

  • Hospital Universitario de Badajoz

    Badajoz, 06080
    Spain

    Active - Recruiting

  • Hospital de la Santa Creu i Sant Pau

    Barcelona, 08041
    Spain

    Active - Recruiting

  • Hospital Universitario de Burgos. Servicio de Neurología

    Burgos, 09006
    Spain

    Active - Recruiting

  • Hospital Ramon y Cajal

    Madrid, 28034
    Spain

    Active - Recruiting

  • Birmingham and Solihull Mental Health Foundation NHS Trust

    Birmingham, B16 8PF
    United Kingdom

    Active - Recruiting

  • Addenbrookes Hospital

    Cambridge, CB2 0QQ
    United Kingdom

    Active - Recruiting

  • National Hospital For Neurology and Neurosurgery

    London, WC1N 3BG
    United Kingdom

    Active - Recruiting

  • John Radcliffe Hospital

    Oxford, OX3 9DU
    United Kingdom

    Active - Recruiting

  • Uab Medicine

    Birmingham, Alabama 35294
    United States

    Completed

  • Barrow Neurological Institute

    Phoenix, Arizona 85013
    United States

    Completed

  • University of California San Diego

    La Jolla, California 92037-1337
    United States

    Completed

  • University of California Davis Medical System

    Sacramento, California 95817
    United States

    Completed

  • CenExel Rocky Mountain Clinical Research, LLC

    Englewood, Colorado 80113
    United States

    Completed

  • University of South Florida

    Tampa, Florida 33612
    United States

    Active - Recruiting

  • Northwestern University

    Chicago, Illinois 60611
    United States

    Completed

  • University of Iowa Hospitals and Clinics

    Iowa City, Iowa 52242
    United States

    Completed

  • John Hopkins University School of Medicine

    Baltimore, Maryland 21287
    United States

    Completed

  • Beth Israel Deaconess Medical Center

    Boston, Massachusetts 02215
    United States

    Completed

  • University of Pittsburgh

    Pittsburgh, Pennsylvania 15213
    United States

    Active - Recruiting

  • Vanderbilt University Medical Center

    Nashville, Tennessee 37212
    United States

    Active - Recruiting

  • EvergreenHealth Investigational Drug Services

    Kirkland, Washington 98034
    United States

    Active - Recruiting

Map preview placeholder

Not the study for you?

Let us help you find the best match. Sign up as a volunteer and receive email notifications when clinical trials are posted in the medical category of interest to you.