Official TitleFrequency of Selected Single Nucleotide Polymorphisms in Phase With the Mutant and Wild-Type HTT Alleles in Huntington Disease Gene Expansion Carriers
Study 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.
Eligibility Criteria
Gender
All
Age
≥25 Years & ≤ 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
This page summarises information from public registry websites, such as ClinicalTrials.gov, EuClinicalTrials.eu, ISRCTN.com, etc. To learn more about this study, see the For Medical Professional tab or visit one of those websites.
The information is taken directly from public registry websites such as ClinicalTrials.gov, EuClinicalTrials.eu, ISRCTN.com, etc., and has not been edited.
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