Study protocol of the HD-MED study aiming to personalize drug treatment in Huntington's disease: a longitudinal, observational study to assess medication use and efficacy in relation to pharmacogenetics.

ABSTRACT:

Background

Huntington's disease (HD) is a hereditary, neurodegenerative disorder characterized by motor, cognitive, and psychiatric symptoms. Currently, HD can only be managed symptomatically, including a large variety of prescribed drugs. Many HD patients experience negative medication effects (e.g. side effects or non-response). Pharmacogenetic (PGx) studies show how genetic variation affects both medication efficacy and toxicity and holds the potential to improve these outcomes of drug treatment.

Primary objective

To classify the effect of the PGx profile of CYP2C19 and CYP2D6 in HD gene expansion carriers on negative medication effects of HD-related medication.

Design

Multicenter, observational study with 1-year follow-up. Adult HD gene expansion carriers who use

SUBMITTER: Feleus S 

PROVIDER: S-EPMC10634258 | biostudies-literature | 2023 Jan-Dec

REPOSITORIES: biostudies-literature