BIO-MH-Early Biomarkers in Premanifest Huntington's Disease Gene Carriers
Recruiting
The primary objective of this study is to investigate the function of SC in response to visual stimulation using a funcional MRI(fMRI) in premanifest HD gene carriers (PMGC) compared to healthy subjects (HS). Our main hypothesis is the dysfunction of the SC at the pre-symptomatic stage of the disease (role of SC as an early biomarker of the disease). The superior colliculus (SC) is a midbrain structure involved in the integration of visual stimuli, in the generation of oriented eye movements and attention tasks.
Secondary objectives will be:
- To study gait parameters using 3D virtual reality equipment in PMGC compared to HC, to demonstrate that they are abnormal at the pre-symptomatic stage of the disease.
- To investigate the cognitive/emotional behavior in PMGC compared to HC, to demonstrate that it is abnormal at the pre-symptomatic stage of the disease.
- To study the correlation between gait, neuroimaging, cognitive/emotional data and various clinical and neuropsychological variables.
- To investigate potential pre-symptomatic subtypes profiles in HD carriers, based on neuroimaging, clinical, cognitive/emotional assessments correlation analysis.
Ages Eligible
for Study:
18 Years to 70 Years (Adult, Older Adult )
Sexes Eligible
for Study:
All
Accepts Healthy Volunteers:
Yes
- 1. For presymptomatic genetic carriers of Huntington(PMGC): HD diagnosis confirmed by genetic testing (CAG triplets ≥36 in HTT gene); Unified Huntington Disease Rating Scale19 Total Motor Score (UHDRS-TMS) ≤ 5; age 18-70 years old. 2.
- For Healthy Controls(HC): normal neurological examination; age 18-70 years old.
- Main exclusion criteria for both PMGC and HC will be: major ophthalmologic and psychiatric active diseases; cognitive impairment (Montreal Cognitive Assessment, MoCA score < 25/30); gait issues related to non-neurological conditions; contraindications to brain MRI.
LOCATIONS
FRANCE
TRIAL SITE:
Grenoble University Hospital
Address: Grenoble, France
CONTACT:Sara Meoni, MD, PhD
Email: smeoni@chu-grenoble.fr