What is this study trying to find out about Huntington Disease?

This study is examining the frequency of specific genetic variations called single nucleotide polymorphisms in people carrying the Huntington Disease gene expansion. Researchers aim to understand how these variations occur on both the mutant and normal forms of the gene. The study is sponsored by Hoffmann-La Roche and helps improve knowledge of genetic factors in Huntington Disease.

Who may be eligible for this Huntington Disease clinical trial?

Adults aged 25 to 60 years who have confirmed Huntington Disease gene expansion status may be eligible. Participants need to have certain clinical scores related to their disease status and be able to tolerate blood draws. Both men and women can join. Please review eligibility criteria for more details.

Is there any cost to participate in this Huntington Disease clinical trial?

Study-related care, including the blood draw and all trial activities during the single visit, is provided at no cost. However, personal travel expenses to the study site may vary and are not guaranteed to be covered.

Actively Recruiting

Age: 25Years - 60Years

All Genders

ID06667414

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

Led by Hoffmann-La Roche · Updated on 2026-05-29

600

Participants Needed

Research Sites

N/A

Total Duration

AI-Summary

What this Trial Is About

Researchers are investigating the frequency of specific single nucleotide polymorphisms SNPs in individuals who carry the Huntington Disease gene expansion. The study aims to understand how these genetic variations appear on both the mutant and wild-type Huntington alleles. Participants will be recruited from Huntington Disease clinics to provide insights into genetic differences related to this condition. Participants will attend a single-day visit at the study site where they will answer questions about their demographics, medical history, and medication use. At the end of the visit, a blood sample will be collected for testing using a sequencing assay designed to detect SNPs specifically phased on the mutant and wild-type Huntington alleles. This study does not involve any treatment or intervention. During the visit, researchers will gather detailed information through questionnaires and a blood draw. The primary outcome is the frequency of selected SNP alleles associated with the Huntington Disease gene expansion. Secondary outcomes include the number of participants with these SNPs according to their medical history, medication use, and demographic factors such as age, sex, ethnicity, and race. Participation involves only this one visit, with no long-term follow-up required.

CONDITIONS

Brief Title

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

Who Can Participate

Age: 25Years - 60Years

All Genders

Eligibility Criteria

You may qualify if you...

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) 69 and Total Motor Score (TMS) >6 within 12 months prior to signing the ICF
Ability to tolerate blood draws

You will not qualify if you...

None

Research Team

Reference Study ID Number: WE45491 https://forpatients.roche.com/

Fastest response: use the inquiry form. No email attachments. https://www.gene.com/contact-us/submit-medical-inquiry

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