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 Sex
- 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
Barrow Neurological Institute
Phoenix 5308655, Arizona 5551752 85013
Phoenix 5308655, Arizona 5551752 85013
University of South Florida
Tampa 4174757, Florida 4155751 33612
Tampa 4174757, Florida 4155751 33612
Beth Israel Deaconess Medical Center
Boston 4930956, Massachusetts 6254926 02215
Boston 4930956, Massachusetts 6254926 02215
University of Pittsburgh
Pittsburgh 5206379, Pennsylvania 6254927 15213
Pittsburgh 5206379, Pennsylvania 6254927 15213
Vanderbilt University Medical Center
Nashville 4644585, Tennessee 4662168 37212
Nashville 4644585, Tennessee 4662168 37212
EvergreenHealth Investigational Drug Services
Kirkland 5799841, Washington 5815135 98034
Kirkland 5799841, Washington 5815135 98034
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