Frequency of Selected Single Nucleotide Polymorphisms in Huntington Disease Gene Expansion Carriers
Purpose
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.
Condition
- Huntington Disease
Eligibility
- Eligible Ages
- Between 25 Years and 60 Years
- Eligible Genders
- All
- Accepts Healthy Volunteers
- No
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 Design
- Phase
- Study Type
- Observational
- Observational Model
- Other
- Time Perspective
- Other
Arm Groups
| Arm | Description | Assigned Intervention |
|---|---|---|
| Participants Who Are Huntington Disease Gene Expansion Carriers |
Recruiting Locations
Uab Medicine
Birmingham, Alabama 35294
Birmingham, Alabama 35294
More Details
- Status
- Recruiting
- Sponsor
- Hoffmann-La Roche
Study Contact
Reference Study ID Number: WE45491 https://forpatients.roche.com/888-662-6728 (U.S. Only)
global-roche-genentech-trials@gene.com