Huntington Disease
Conditions
Keywords
PET, MRI, SV2A, synaptic density, 18F-SynVesT-1
Brief summary
AIM: to compare the sensitivity of SV2A PET and volumetric MRI to detect longitudinal striatal changes in premanifest HD. DESIGN: The investigators will include late premanifest HD mutations carriers and matched healthy controls. All subjects will undergo a clinical examination, with comprehensive assessment of motor and non-motor symptoms, and imaging evaluation consisting of 18F-SynVesT-1 PET and volumetric MRI at baseline and after 2 years.
Interventions
DIAGNOSTIC_TESTDiagnostic Test: 18F-SynVesT-1 PET
Positron Emission Tomography (PET) of synaptic vesicle protein 2A (SV2A) using the radioligand 18F-SynVesT-1.
DIAGNOSTIC_TESTVolumetric MRI
Magnetic resonance imaging of brain volume.
Sponsors
Universitaire Ziekenhuizen KU Leuven
Study design
Allocation
NON_RANDOMIZED
Intervention model
SINGLE_GROUP
Primary purpose
DIAGNOSTIC
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
20 Years to 75 Years
Healthy volunteers
Yes
Inclusion criteria
* Age 20-75 years inclusive. * Capacity to understand the informed consent form. * HD mutation carriers: * HTT (CAG)n ≥ 40 * HD-ISS \< 2 * CAP100 score \> 70
Exclusion criteria
* neuropsychiatric diseases (other than HD for HD mutation carriers) * major internal medical diseases * white matter lesion load on FLAIR Fazekas score 2 or higher or other relevant MRI abnormalities * history of alcohol abuse or current alcohol abuse (chronic use of more than 15 units per week) or drug abuse * contraindications for MR * pregnancy * previous participation in other research studies involving ionizing radiation with more than 1 mSv in the previous 12 months.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Baseline differences in synaptic density. | Data analysis will be done when all subjects have undergone the baseline evaluation. | Baseline differences in (regional) synaptic density between premanifest HD and controls. |
| Baseline differences in brain volume. | Data analysis will be done when all subjects have undergone the baseline evaluation. | Baseline differences in (regional) brain volume between premanifest HD and controls. |
| Differences in the rate of decline of synaptic density. | Data analysis will be done when all subjects have undergone the 2-year follow-up evaluation. | Differences in the rate of decline of (regional) synaptic density between patients and controls; Sensitivity to change for synaptic density. |
| Differences in the rate of decline of volumetric MRI. | Data analysis will be done when all subjects have undergone the 2-year follow-up evaluation. | Differences in the rate of decline of (regional) brain volumes between patients and controls; Sensitivity to change for (regional) brain volumes. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Baseline correlations between clinical scores and regional synaptic density or brain volume. | Data analysis will be done when all subjects have undergone the baseline evaluation. | Correlations between clinical scores and regional synaptic density or regional volume loss in the patient group at baseline. |
| Correlations between progression of the clinical scores and decline of synaptic density or brain volume. | Data analysis will be done when all subjects have undergone the 2-year follow-up evaluation. | Correlations between progression of the clinical scores and decline of synaptic density or regional volume loss in the patient group, after longitudinal follow up of 2 years. |
Countries
Belgium
Outcome results
None listed