Huntington Disease
Conditions
Brief 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.
Interventions
None listed
Sponsors
Hoffmann-La Roche
Study design
Observational model
OTHER
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
25 Years to 60 Years
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
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Frequencies of Selected Single Nucleotide Polymorphism (SNP) Alleles in Phase With the mHTT and wtHTT Alleles | Day 1 |
Secondary
| Measure | Time frame |
|---|---|
| Number of Participants With Selected SNPs According to Their Medical History | Day 1 |
| Number of Participants With Selected SNPs According to Their Medication History | Day 1 |
| Number of Participants With Selected SNPs According to Their Demographic Characteristics (Age, Sex, Ethnicity, and Race) | Day 1 |
Countries
Argentina, Australia, Canada, Denmark, Germany, Italy, New Zealand, Poland, Portugal, Spain, United Kingdom, United States
Contacts
STUDY_DIRECTORClinical Trials
Hoffmann-La Roche
Outcome results
None listed