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

Completed

Conditions studied: Huntington Disease

In brief

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.

Key facts

Study ID

NCT06667414

Run by

Hoffmann-La Roche

People needed

574

Starts

2024-09-02

Expected to finish

2026-07-03

Last updated by the study team

2026-07-28

Who can join

Age: 25 and older, up to 60. Sex: any. Healthy volunteers: not accepted.

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

Where it is running

• Uab Medicine — Birmingham, Alabama, United States
• Barrow Neurological Institute — Phoenix, Arizona, United States
• University of California San Diego — La Jolla, California, United States
• University of California Davis Medical System — Sacramento, California, United States
• CenExel Rocky Mountain Clinical Research, LLC — Englewood, Colorado, United States
• University of South Florida — Tampa, Florida, United States
• Northwestern University — Chicago, Illinois, United States
• University of Iowa Hospitals and Clinics — Iowa City, Iowa, United States
• John Hopkins University School of Medicine — Baltimore, Maryland, United States
• Beth Israel Deaconess Medical Center — Boston, Massachusetts, United States
• University of Pittsburgh — Pittsburgh, Pennsylvania, United States
• Vanderbilt University Medical Center — Nashville, Tennessee, United States
• EvergreenHealth Investigational Drug Services — Kirkland, Washington, United States
• Hospital Britanico de Buenos Aires — Ciudad Autonoma Buenos Aires, Argentina
• Calvary Health Care Bethlehem — Caulfield South, New South Wales, Australia
• Westmead Hospital — Westmead, New South Wales, Australia
• Royal Melbourne Hospital — Parkville, Victoria, Australia
• Graylands Hospital — Mount Claremont, Western Australia, Australia
• University of Alberta — Edmonton, Alberta, Canada
• University of British Columbia Hospital — Vancouver, British Columbia, Canada
• Centricity Research — Halifax, Nova Scotia, Canada
• North York General Hospital — Toronto, Ontario, Canada
• McGill University — Montreal, Quebec, Canada
• Rigshospitalet, Hukommelsesklinikken — København Ø, Denmark
• Charité - Universitätsmed. Berlin, Klinik für Psychiatrie und Psychotherapie — Berlin, Germany

Full record on ClinicalTrials.gov

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