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AIM: To assess synaptic density and to investigate the potential relationship of regional synaptic loss with motor and non-motor symptoms and with disease progression in the human brain in vivo in patients with HD.
DESIGN: The investigators will include 20 HD mutations carriers and 15 healthy controls. All subjects will undergo a clinical examination, with comprehensive assessment of motor and non-motor symptoms, and imaging evaluation consisting of 11C-UCB-J PET-CT and 18F-FDG PET-MR at baseline and after 2 years.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| HD patients | Experimental | At baseline and 2-year follow-up |
|
| Healthy controls | Active Comparator | At baseline and 2-year follow-up |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| 11C-UCB-J PET-CT | Diagnostic Test | Positron Emission Tomography (PET) of synaptic vesicle protein 2A (SV2A) using the radioligand 11C-UCB-J. |
|
| Measure | Description | Time Frame |
|---|---|---|
| Baseline differences in synaptic density. | Baseline differences (%) in (regional) synaptic density between patients and controls. | Data analysis wel be done when all subjects have undergone the baseline evaluation. |
| Baseline correlations between clinical scores and regional synaptic density. | Correlations between clinical scores and regional synaptic density in the patient group at baseline. | Data analysis wel be done when all subjects have undergone the baseline evaluation. |
| Differences in the rate of decline of synaptic density. | Differences (%) in the rate of decline of synaptic density between patients and controls. | Data analysis wel 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. | Correlations between progression of the clinical scores and decline of synaptic density in the patient group, after longitudinal follow up of 2 years. | Data analysis wel be done when all subjects have undergone the 2-year follow-up evaluation. |
| Measure | Description | Time Frame |
|---|---|---|
| Baseline differences in cerebral glucose metabolism. | Baseline differences (%) in (regional) glucose metabolism between patients and controls. | Data analysis wel be done when all subjects have undergone the baseline evaluation. |
| Baseline correlations between clinical scores and cerebral glucose metabolism. |
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Inclusion Criteria:
Age 20-75 years.
Capacity to understand the informed consent form.
For HD group: CAG repeat expansion in HTT ≥ 40.
Premanifest HD mutation carriers:
* No clinical diagnostic motor features of HD, defined as Unified Huntington's Disease Rating Scale (UHDRS) Diagnostic Confidence Score < 4.
Early manifest HD patients:
Exclusion Criteria:
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| Name | Affiliation | Role |
|---|---|---|
| Wim Vandenberghe, MD, PhD | UZ Leuven | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| UZ Leuven | Leuven | Vlaams-Brabant | 3000 | Belgium |
Needs to be decided.
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| ID | Term |
|---|---|
| D006816 | Huntington Disease |
| ID | Term |
|---|---|
| D001480 | Basal Ganglia Diseases |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
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Longitudinal study design (2 years follow up) where results of SV2A PET/CT, FDG PET/MR and clinical rating scales are compared between HD patients and healthy controls.
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| 18F-FDG PET-MR | Diagnostic Test | Positron Emission Tomography (PET) of glucose metabolism using the radioligand 18F-FDG, and brain MRI performed simultaneously. |
|
Correlations between clinical scores and cerebral glucose metabolism in the patient group at baseline. |
| Data analysis wel be done when all subjects have undergone the 2-year follow-up evaluation. |
| Differences in the rate of decline of cerebral glucose metabolism. | Differences (%) in the rate of decline in cerebral glucose metabolism between patients and controls. | Data analysis wel be done when all subjects have undergone the 2-year follow-up evaluation. |
| Correlations between progression of the clinical scores and decline of cerebral glucose metabolism in the patient group, after longitudinal follow up of 2 years. | Correlations between progression of the clinical scores and decline of cerebral glucose metabolism in the patient group, after longitudinal follow up of 2 years. | Data analysis wel be done when all subjects have undergone the 2-year follow-up evaluation. |
| D003704 | Dementia |
| D002819 | Chorea |
| D020820 | Dyskinesias |
| D009069 | Movement Disorders |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D003072 | Cognition Disorders |
| D019965 | Neurocognitive Disorders |
| D001523 | Mental Disorders |