Biomarkers for Huntington's disease.

Area of Science:

• Neuroscience
• Genetics
• Biomarker Research

Background:

• Huntington's disease (HD) is an inherited neurodegenerative disorder with no current human treatments.
• Animal models have demonstrated successful disease modification strategies.
• Current clinical measures are insufficient for human trials, especially in premanifest HD mutation carriers.

Purpose of the Study:

• To review imaging, biofluid, motor, and cognitive measures reflecting HD progression.
• To present a framework for evaluating potential HD biomarkers.
• To emphasize the need for systematic comparison of candidate biomarkers.

Main Methods:

• Literature review of existing imaging, biofluid, motor, and cognitive measures in HD.
• Development of a conceptual framework and pipeline for biomarker evaluation.
• Highlighting the necessity of head-to-head comparisons for candidate markers.

Main Results:

• Identified various imaging, biofluid, quantitative motor, and cognitive measures that correlate with HD progression.
• Proposed a structured approach for assessing the validity and utility of potential HD biomarkers.
• Emphasized the critical need for standardized, comparative studies of biomarkers.

Conclusions:

• Biomarker research is crucial for developing surrogate endpoints to facilitate HD clinical trials.
• A systematic evaluation framework is essential for advancing biomarker discovery in HD.
• Head-to-head comparisons will accelerate the identification of reliable biomarkers for HD.