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

NCT06667414 | Completed

• 1 other identifier: WE45491
• Study Type: observational
• Target: 574
• Locations: 12 countries
• Sites: 45

Brief 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.

Conditions

Huntington Disease

Outcome Measures

Primary Outcomes (1)

• Frequencies of Selected Single Nucleotide Polymorphism (SNP) Alleles in Phase With the mHTT and wtHTT Alleles

  Day 1

Secondary Outcomes (3)

• Number of Participants With Selected SNPs According to Their Medical History

  Day 1

• Number of Participants With Selected SNPs According to Their Medication History

  Day 1

• Number of Participants With Selected SNPs According to Their Demographic Characteristics (Age, Sex, Ethnicity, and Race)

  Day 1

Study Arms (1)

Participants Who Are Huntington Disease Gene Expansion Carriers

Eligibility Criteria

• Age: 25 Years - 60 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64)
• 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.

You may qualify if:

• 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

You may not qualify if:

• None

Sponsors & Collaborators

• Hoffmann-La Roche: lead

Study Sites (45)

Uab Medicine

Birmingham, Alabama, 35294, United States

Location

Barrow Neurological Institute

Phoenix, Arizona, 85013, United States

Location

University of California San Diego

La Jolla, California, 92037-1337, United States

Location

University of California Davis Medical System

Sacramento, California, 95817, United States

Location

CenExel Rocky Mountain Clinical Research, LLC

Englewood, Colorado, 80113, United States

Location

University of South Florida

Tampa, Florida, 33612, United States

Location

Northwestern University

Chicago, Illinois, 60611, United States

Location

University of Iowa Hospitals and Clinics

Iowa City, Iowa, 52242, United States

Location

John Hopkins University School of Medicine

Baltimore, Maryland, 21287, United States

Location

Beth Israel Deaconess Medical Center

Boston, Massachusetts, 02215, United States

Location

University of Pittsburgh

Pittsburgh, Pennsylvania, 15213, United States

Location

Vanderbilt University Medical Center

Nashville, Tennessee, 37212, United States

Location

EvergreenHealth Investigational Drug Services

Kirkland, Washington, 98034, United States

Location

Hospital Britanico de Buenos Aires

Ciudad Autonoma Buenos Aires, C1284AEB, Argentina

Location

Calvary Health Care Bethlehem

Caulfield South, New South Wales, 3162, Australia

Location

Westmead Hospital

Westmead, New South Wales, 2145, Australia

Location

Royal Melbourne Hospital

Parkville, Victoria, 3050, Australia

Location

Graylands Hospital

Mount Claremont, Western Australia, 6010, Australia

Location

University of Alberta

Edmonton, Alberta, T6G 2G3, Canada

Location

University of British Columbia Hospital

Vancouver, British Columbia, V6T 2B5, Canada

Location

Centricity Research

Halifax, Nova Scotia, B3S 1N2, Canada

Location

North York General Hospital

Toronto, Ontario, M2J 1V1, Canada

Location

McGill University

Montreal, Quebec, H3A 2B4, Canada

Location

Rigshospitalet, Hukommelsesklinikken

København Ø, 2100, Denmark

Location

Charité - Universitätsmed. Berlin, Klinik für Psychiatrie und Psychotherapie

Berlin, 10117, Germany

Location

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

Bochum, 44791, Germany

Location

Universitätsklinikum Erlangen, Abteilung Molekulare Neurologie

Erlangen, 91054, Germany

Location

Universitätsklinikum Ulm

Ulm, 89081, Germany

Location

Fondazione IRCCS Istituto Neurologico Carlo Besta

Milan, Lombardy, 20133, Italy

Location

Universita Degli Studi Di Firenze

Florence, Tuscany, 50134, Italy

Location

Auckland DHB - Neurlogy Department

Auckland, New Zealand

Location

New Zealand Brain Research Institute

Christchurch, 8011, New Zealand

Location

Wellington Hospital

Wellington, 6021, New Zealand

Location

Szpital Sw. Wojciecha

Gda?sk, 80-462, Poland

Location

Wojskowy Instytut Medycyny Lotniczej

Warsaw, 01-755, Poland

Location

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

Lisbon, 1649-035, Portugal

Location

CNS - Campus Neurológico

Torres Vedras, 2560-280, Portugal

Location

Hospital Universitario de Badajoz

Badajoz, 06080, Spain

Location

Hospital de la Santa Creu i Sant Pau

Barcelona, 08041, Spain

Location

Hospital Universitario de Burgos. Servicio de Neurología

Burgos, 09006, Spain

Location

Hospital Ramon y Cajal

Madrid, 28034, Spain

Location

Birmingham and Solihull Mental Health Foundation NHS Trust

Birmingham, B16 8PF, United Kingdom

Location

Addenbrookes Hospital

Cambridge, CB2 0QQ, United Kingdom

Location

National Hospital For Neurology and Neurosurgery

London, WC1N 3BG, United Kingdom

Location

John Radcliffe Hospital

Oxford, OX3 9DU, United Kingdom

Location

Related Links

• Please use this form to submit your questions for a faster response: https://www.gene.com/contact-us/submit-medical-inquiry. Do not include or attach any medical records when emailing or completing the form. A nurse will respond within 24 business hours.

Biospecimen

Retention: SAMPLES WITH DNA

Blood sample

MeSH Terms

Conditions

Huntington Disease

Condition Hierarchy (Ancestors)

Basal Ganglia Diseases; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Dementia; Chorea; Dyskinesias; Movement Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cognition Disorders; Neurocognitive Disorders; Mental Disorders

Study Officials

• Clinical Trials

  Hoffmann-La Roche

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: OTHER
• Time Perspective: OTHER
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: October 30, 2024
• First Posted: October 31, 2024
• Study Start: September 2, 2024
• Primary Completion: July 3, 2026
• Study Completion: July 3, 2026
• Last Updated: July 28, 2026

Record last verified: 2026-07

Data Sharing

• IPD Sharing: Will not share

Locations

DE (4); AR (1); NZ (3); AU (4); IT (2); ES (4); CA (5); PL (2); DK (1); GB (4); PT (2); US (13)