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

Huntington Disease

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.

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Participation Requirements

  • Sex:

    ALL

  • Eligible Ages:

    25 to 60

Participation Criteria

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 Location

North York General Hospital
North York General Hospital
Toronto, Ontario
Canada

Contact Study Team

Centricity Research
Centricity Research
Halifax, Nova Scotia
Canada

Contact Study Team

University of Alberta
University of Alberta
Edmonton, Alberta
Canada

Contact Study Team

Study Sponsored By
Hoffmann-La Roche
Participants Required
More Information
Study ID: NCT06667414