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

Roche

Status: Enrolling

Conditions: Huntington Disease

Study type: Observational

Funder types: Industry

Identifiers

NCT06667414

WE45491

Details and patient eligibility

About

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.

Enrollment: 600 estimated patients

Sex: All

Ages: 25 to 60 years old

Volunteers: No Healthy Volunteers

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

Trial design

600 participants in 1 patient group

Participants Who Are Huntington Disease Gene Expansion Carriers