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

Description

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.

Conditions

Huntington Disease

Study Overview

Study Details

Study overview

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.

Frequency of Selected Single Nucleotide Polymorphisms in Phase With the Mutant and Wild-Type HTT Alleles in Huntington Disease Gene Expansion Carriers

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

Condition
Huntington Disease
Intervention / Treatment

-

Contacts and Locations

Englewood

CenExel Rocky Mountain Clinical Research, LLC, Englewood, Colorado, United States, 80113

Iowa City

University of Iowa Hospitals and Clinics, Iowa City, Iowa, United States, 52242

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility 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
  • * None

Ages Eligible for Study

25 Years to 60 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

No

Collaborators and Investigators

Hoffmann-La Roche,

Clinical Trials, STUDY_DIRECTOR, Hoffmann-La Roche

Study Record Dates

2028-09-15