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Examining genetic variations in Huntington Disease carriers

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

Observational Hoffmann-La Roche · NCT06667414

This study is looking to see how common certain genetic changes are in people who carry the Huntington Disease gene to better understand the condition.

Quick facts

Study typeObservational
Enrollment600 (estimated)
Ages25 Years to 60 Years
SexAll
SponsorHoffmann-La Roche Industry-sponsored
Locations45 sites (Birmingham, Alabama and 44 other locations)
Trial IDNCT06667414 on ClinicalTrials.gov

What this trial studies

This observational study aims to investigate the frequency of specific single nucleotide polymorphisms (SNPs) in individuals who are carriers of the Huntington Disease gene expansion. Participants will be recruited from Huntington Disease clinics and will undergo a one-day visit where they will provide demographic information and medical history. A blood sample will be collected for sequencing assays designed to analyze SNPs on both wild-type and mutant Huntington alleles. The study focuses on understanding genetic factors associated with Huntington Disease.

Who should consider this trial

Good fit: Ideal candidates for this study are individuals aged 25 to 60 who are confirmed carriers of the Huntington Disease gene expansion mutation.

Not a fit: Patients outside the age range of 25 to 60 or those without confirmed Huntington Disease gene expansion mutation carrier status may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could enhance the understanding of genetic variations in Huntington Disease, potentially leading to improved patient management and treatment strategies.

How similar studies have performed: While this study focuses on a specific genetic analysis, similar studies have shown promise in understanding genetic factors in other conditions, suggesting potential for success in this area.

Eligibility criteria

Show full inclusion / exclusion criteria 
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

Where this trial is running

Birmingham, Alabama and 44 other locations

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
View on ClinicalTrials.gov → Find more trials like this →
Conditions Huntington Disease
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.