Frequency of Selected Single Nucleotide Polymorphisms in Phase With the Mutant and Wild-Type HTT Alleles in Huntington Disease Gene Expansion Carriers
Hoffmann-La Roche
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. 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.
Eligibility
- Age range
- 25–60 years
- Sex
- All
- 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
Locations (45)
- Uab MedicineBirmingham, Alabama
- Barrow Neurological InstitutePhoenix, Arizona
- University of California San DiegoLa Jolla, California
- University of California Davis Medical SystemSacramento, California
- CenExel Rocky Mountain Clinical Research, LLCEnglewood, Colorado
- University of South FloridaTampa, Florida