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
NameTimeMethod
Frequencies of Selected Single Nucleotide Polymorphism (SNP) Alleles in Phase With the mHTT and wtHTT AllelesDay 1
Secondary Outcome Measures
NameTimeMethod
Number of Participants With Selected SNPs According to Their Medical HistoryDay 1
Number of Participants With Selected SNPs According to Their Medication HistoryDay 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

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