Frequency of Selected Single Nucleotide Polymorphisms in Huntington Disease Gene Expansion Carriers
Recruiting
- Conditions
- Registration Number
- NCT06667414
- Lead Sponsor
- Hoffmann-La Roche
- 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 wi...
- Detailed Description
Not available
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 600
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
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Exclusion Criteria
- None
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Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Frequencies of Selected Single Nucleotide Polymorphism (SNP) Alleles in Phase With the mHTT and wtHTT Alleles Day 1
- Secondary Outcome Measures
Name Time Method 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
Trial Locations
- Locations (3)
WESTMEAD HOSPITAL; Deparment of Neurology
🇦🇺Westmead, New South Wales, Australia
Universitätsklinikum Ulm; Klinik für Neurologie
🇩🇪Ulm, Germany
National Hospital For Neurology and Neurosurgery
🇬🇧London, United Kingdom