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

Hoffmann-La Roche600 enrolled

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.

Study Type

OBSERVATIONAL

Enrollment

600

Conditions

Huntington Disease

Eligibility

Sex: ALLMin age: 25 YearsMax age: 60 Years

Medical Language ↔ Plain English

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

Locations (45)

Uab Medicine

Birmingham, Alabama, United States

COMPLETED

Barrow Neurological Institute

Phoenix, Arizona, United States

RECRUITING

University of California San Diego

La Jolla, California, United States

COMPLETED

University of California Davis Medical System

Sacramento, California, United States

COMPLETED

CenExel Rocky Mountain Clinical Research, LLC

Englewood, Colorado, United States

COMPLETED

University of South Florida

Tampa, Florida, United States

RECRUITING

Northwestern University

Chicago, Illinois, United States

COMPLETED

University of Iowa Hospitals and Clinics

Iowa City, Iowa, United States

COMPLETED

John Hopkins University School of Medicine

Baltimore, Maryland, United States

COMPLETED

Beth Israel Deaconess Medical Center

Boston, Massachusetts, United States

RECRUITING

...and 35 more locations

Outcomes

Primary Outcomes

Frequencies of Selected Single Nucleotide Polymorphism (SNP) Alleles in Phase With the mHTT and wtHTT Alleles

Time frame: Day 1

Secondary Outcomes

Number of Participants With Selected SNPs According to Their Medical History

Time frame: Day 1

Number of Participants With Selected SNPs According to Their Medication History

Time frame: Day 1

Number of Participants With Selected SNPs According to Their Demographic Characteristics (Age, Sex, Ethnicity, and Race)

Time frame: Day 1

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

Overview

Conditions

Eligibility

Locations (45)

Outcomes

Primary Outcomes

Secondary Outcomes

Central Contacts