Abstract
Volumetric magnetic resonance imaging (vMRI) has been widely studied in Huntington's disease (HD) and is commonly used to assess treatment effects on brain atrophy in interventional trials. Global and regional trajectories of brain atrophy in HD, with early involvement of striatal regions, are becoming increasingly understood. However, there remains heterogeneity in the methods used and a lack of widely-accessible multisite, longitudinal, normative datasets in HD. Consensus for standardized practices for data acquisition, analysis, sharing, and reporting will strengthen the interpretation of vMRI results and facilitate their adoption as part of a pathobiological disease staging system. The Huntington's Disease Regulatory Science Consortium (HD-RSC) currently comprises 37 member organizations and is dedicated to building a regulatory science strategy to expedite the approval of HD therapeutics. Here, we propose four recommendations to address vMRI standardization in HD research: (1) a checklist of standardized practices for the use of vMRI in clinical research and for reporting results; (2) targeted research projects to evaluate advanced vMRI methodologies in HD; (3) the definition of standard MRI-based anatomical boundaries for key brain structures in HD, plus the creation of a standard reference dataset to benchmark vMRI data analysis methods; and (4) broad access to raw images and derived data from both observational studies and interventional trials, coded to protect participant identity. In concert, these recommendations will enable a better understanding of disease progression and increase confidence in the use of vMRI for drug development.
Highlights
Like other neurodegenerative diseases, Huntington’s disease (HD) is currently diagnosed by its clinical signs, despite its cardinal characteristic of being a fully penetrant monogenic disease [1]
We propose a checklist of recommendations that we encourage all HD research, especially clinical trials, to adopt (Table 1); these cover considerations of particular relevance to participants with HD, Volumetric magnetic resonance imaging (vMRI) data acquisition, image analysis and publication of findings
As image QC failure for a core sequence in a study can mean a re-scan request or result in data being excluded from analysis, the checks performed and the pass/fail criteria need to be carefully considered during study setup which means most clinical trial applications still rely on visual quality control
Summary
Huntington’s disease (HD) is currently diagnosed by its clinical signs, despite its cardinal characteristic of being a fully penetrant monogenic disease [1]. We propose a checklist of recommendations that we encourage all HD research, especially clinical trials, to adopt (Table 1); these cover considerations of particular relevance to participants with HD, vMRI data acquisition, image analysis and publication of findings.
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