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

Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age25-60
SponsorHoffmann-La Roche

About this trial

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 criteria

Qualifiers

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

Disqualifiers

None

Trial design

Treatments tested in this trial

  • Not listed

Trial groups

600 Participants
are grouped into 1 trial group

Locations

45
Argentina
Hospital Britanico de Buenos AiresC1284AEB, Ciudad Autonoma Buenos Aires Argentina
Australia
Calvary Health Care Bethlehem3162, Caulfield SouthNew South Wales, Australia
Westmead Hospital2145, WestmeadNew South Wales, Australia
Royal Melbourne Hospital3050, ParkvilleVictoria, Australia

Sponsors and collaborators

Hoffmann-La Roche

Lead sponsor