Huntington DiseaseNCT06667414
Frequency of Selected Single Nucleotide Polymorphisms in Huntington Disease Gene Expansion Carriers
An observational study of Huntington Disease, run by Hoffmann-La Roche at 45 sites in 12 countries.
Trial 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. Read more about this study
- Who is it for?
- Ages 25 to 60 years
- Conditions the study is for
- Huntington Disease
- How many people
- 574 participants
- Where
- 45 sitesin 12 countries
- Study dates
- 2 Sep 2024to 3 Jul 2026
- 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 25 to 60 years
- All sexes
- No healthy volunteers
- Adult
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.
Who may be able to join
- 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
Who cannot join
- None
Trial locations and contacts
45 sites in 12 countries.
45 sites in 12 countries
United States13 sites
John Hopkins University School of Medicine
Baltimore, Maryland, 21287
Uab Medicine
Birmingham, Alabama, 35294
Beth Israel Deaconess Medical Center
Boston, Massachusetts, 02215
Northwestern University
Chicago, Illinois, 60611
CenExel Rocky Mountain Clinical Research, LLC
Englewood, Colorado, 80113
University of Iowa Hospitals and Clinics
Iowa City, Iowa, 52242
EvergreenHealth Investigational Drug Services
Kirkland, Washington, 98034
University of California San Diego
La Jolla, California, 92037-1337
Vanderbilt University Medical Center
Nashville, Tennessee, 37212
Barrow Neurological Institute
Phoenix, Arizona, 85013
University of Pittsburgh
Pittsburgh, Pennsylvania, 15213
University of California Davis Medical System
Sacramento, California, 95817
University of South Florida
Tampa, Florida, 33612
Canada5 sites
University of Alberta
Edmonton, Alberta, T6G 2G3
Centricity Research
Halifax, Nova Scotia, B3S 1N2
McGill University
Montreal, Quebec, H3A 2B4
North York General Hospital
Toronto, Ontario, M2J 1V1
University of British Columbia Hospital
Vancouver, British Columbia, V6T 2B5
Australia4 sites
Calvary Health Care Bethlehem
Caulfield South, New South Wales, 3162
Graylands Hospital
Mount Claremont, Western Australia, 6010
Royal Melbourne Hospital
Parkville, Victoria, 3050
Westmead Hospital
Westmead, New South Wales, 2145
Germany4 sites
Charité - Universitätsmed. Berlin, Klinik für Psychiatrie und Psychotherapie
Berlin, 10117
St. Josef-Hospital, Neurologische Klinik der Ruhr-Uni
Bochum, 44791
Universitätsklinikum Erlangen, Abteilung Molekulare Neurologie
Erlangen, 91054
Universitätsklinikum Ulm
Ulm, 89081
Spain4 sites
Hospital Universitario de Badajoz
Badajoz, 06080
Hospital de la Santa Creu i Sant Pau
Barcelona, 08041
Hospital Universitario de Burgos. Servicio de Neurología
Burgos, 09006
Hospital Ramon y Cajal
Madrid, 28034
United Kingdom4 sites
Birmingham and Solihull Mental Health Foundation NHS Trust
Birmingham, B16 8PF
Addenbrookes Hospital
Cambridge, CB2 0QQ
National Hospital For Neurology and Neurosurgery
London, WC1N 3BG
John Radcliffe Hospital
Oxford, OX3 9DU
New Zealand3 sites
Auckland DHB - Neurlogy Department
Auckland
New Zealand Brain Research Institute
Christchurch, 8011
Wellington Hospital
Wellington, 6021
Italy2 sites
Universita Degli Studi Di Firenze
Florence, Tuscany, 50134
Fondazione IRCCS Istituto Neurologico Carlo Besta
Milan, Lombardy, 20133
Poland2 sites
Szpital Sw. Wojciecha
Gda?sk, 80-462
Wojskowy Instytut Medycyny Lotniczej
Warsaw, 01-755
Portugal2 sites
Unidade Local de Saude de Santa Maria, E.P.E. - Hospital de Santa Maria
Lisbon, 1649-035
CNS - Campus Neurológico
Torres Vedras, 2560-280
Argentina1 site
Hospital Britanico de Buenos Aires
Ciudad Autonoma Buenos Aires, C1284AEB
About this study
Official title: 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.
- Conditions
- Huntington Disease
- Medical subject headings
- Huntington Disease
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Participants Who Are Huntington Disease Gene Expansion Carriers | Not described |
What is being measured
The primary outcome is the main question the study is designed to answer.
Frequencies of Selected Single Nucleotide Polymorphism (SNP) Alleles in Phase With the mHTT and wtHTT Alleles
Measured: Day 1
Secondary outcomes (3)
Number of Participants With Selected SNPs According to Their Medical History
Measured: Day 1
Number of Participants With Selected SNPs According to Their Medication History
Measured: Day 1
Number of Participants With Selected SNPs According to Their Demographic Characteristics (Age, Sex, Ethnicity, and Race)
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted31 Oct 2024
- Study start2 Sep 2024
- Primary completion3 Jul 2026
- Study completion3 Jul 2026
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 Hoffmann-La RocheThe 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
- Other
- Time perspective
- Other
- Enrolment
- 574 participants (actual)
Sponsor and investigators
- Lead sponsor
- Hoffmann-La Roche
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Clinical Trials, Study director, Hoffmann-La Roche
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06667414
- Sponsor's protocol ID
- WE45491
- Status last verified
- Jul 2026
- First submitted
- 30 Oct 2024
- Last updated
- 28 Jul 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 28 Jul 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Frequency of Selected Single Nucleotide Polymorphisms in Phase With the Mutant and Wild-Type HTT Alleles in Huntington Disease Gene Expansion Carriers
- ClinicalTrials.gov ID
- NCT06667414
- Acronym / sponsor ID
- WE45491
- Conditions
- Huntington Disease
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 574 participants (actual)
- Lead sponsor
- Hoffmann-La RocheIndustry (pharma, biotech, devices)
- Study start
- 2 Sep 2024 (actual)
- Primary completion
- 3 Jul 2026 (actual)
- Study completion
- 3 Jul 2026 (actual)
- First posted
- 31 Oct 2024 (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.
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 design
- Observational model
- Other
- Time perspective
- Other
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Participants Who Are Huntington Disease Gene Expansion Carriers | – | – |
Who may qualify
- Ages
- 25 to 60 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult
- 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.
Key inclusion criteria (5 listed)
- 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
Key exclusion criteria (1 listed)
- None
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Frequencies of Selected Single Nucleotide Polymorphism (SNP) Alleles in Phase With the mHTT and wtHTT Alleles
Time frame: Day 1
3 secondary outcomes
Number of Participants With Selected SNPs According to Their Medical History
Time frame: Day 1
Number of Participants With Selected SNPs According to Their Medication History
Time frame: Day 1
Number of Participants With Selected SNPs According to Their Demographic Characteristics (Age, Sex, Ethnicity, and Race)
Time frame: Day 1
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 28 Jul 2026.
- 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.Link provided by the sponsor.
- Individual participant dataSharing planned: No
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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.
Clinical Trials study director
Hoffmann-La Roche
45 sites in 12 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Huntington Disease, run by Hoffmann-La Roche at 45 sites in 12 countries.
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 5 inclusion and 1 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 28 Jul 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 45 sites in United States, Canada, Australia, Germany, Spain and 7 more countries. 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?
Frequencies of Selected Single Nucleotide Polymorphism (SNP) Alleles in Phase With the mHTT and wtHTT Alleles (time frame: Day 1). 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 28 Jul 2026.