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

Launched by HOFFMANN-LA ROCHE · Oct 30, 2024

Keywords

ClinConnect Summary

This clinical trial is studying the genetic make-up of individuals who carry a specific mutation associated with Huntington Disease (HD). Researchers want to learn more about certain genetic variants, called single nucleotide polymorphisms (SNPs), that could be related to this condition. If you or a family member are between the ages of 25 and 60 and have been confirmed as a carrier of the HD gene mutation, you may be eligible to participate.

The study involves a single visit to a Huntington Disease clinic, where you will answer questions about your background and health history. At the end of the visit, a small blood sample will be taken for genetic testing. There are no specific health issues that would exclude you from participating, but you must be able to tolerate a blood draw. This study is currently looking for participants, and your involvement could help researchers better understand Huntington Disease and its genetic factors.

Gender

ALL

Eligibility 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