Study protocol for the iMarkHD study in individuals with Huntington's disease
Daniel J van Wamelen1,2,3, Naomi H Martin1, Orsolya Makos1
1Institute of Psychiatry, Psychology & Neuroscience, Department of Neuroimaging, King's College London, London, UK.
Journal of Huntington'S Disease
|February 20, 2025
Summary
The iMarkHD study uses advanced PET scans and MRI to track Huntington's disease (HD) progression. This research aims to find new biomarkers for better treatment targets and clinical trials.
Area of Science:
- Neuroscience
- Radiology
- Genetics
Background:
- Huntington's disease (HD) is characterized by motor symptoms linked to CAG repeat expansion in the huntingtin gene.
- Mechanisms of HD symptom development, progression, and subtypes remain poorly understood.
Purpose of the Study:
- To investigate molecular positron emission tomography (PET) tracers and magnetic resonance imaging (MRI) markers in the iMarkHD study.
- To identify biomarkers for disease and symptom progression in Huntington's disease.
Main Methods:
- Recruiting 108 participants (72 with HD, 36 controls), with potential expansion.
- Utilizing multimodal MRI and four PET tracers (cannabinoid 1, histamine 3, serotonin 2A, phosphodiesterase 10A) over 10 visits.
- Assessing cerebral blood flow, functional connectivity, and brain iron via MRI.
Main Results:
- Participant recruitment is ongoing, initiated in September 2022.
Conclusions:
- Combining PET and multimodal MRI offers a comprehensive view of HD progression.
- This study will establish a foundation for identifying novel therapeutic targets and outcome measures for HD clinical trials.
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