HCHWA-D hereditary cerebral amyloid angiopathy Hereditary Cerebral Hemorrhage With Amyloidosis Dutch type
Conditions
Interventions
None listed
Sponsors
Leids Universitair Medisch Centrum
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: 1. Age >= 18y 2. Presence of either the APP mutation or an (earlier occurrence of) ICH on CT/MRI suspect for CAA and a family history (first degree relative) of HCHWA-D. 3. Ability and willingness to provide written informed consent Additional criteria for TRACK D-CAA subgroup: 1. Age 25-60 (inclusive) years old 2. Presence of APP mutation at position 693 (100% carrier) or one first-degree relative with the mutation (50% carrier in case participants do not want to know their mutation status) 3. No symptomatic ICH or maximum of 1 symptomatic ICH > 1 year before study entry with ADL independence after the hemorrhage.
Exclusion criteria
Exclusion criteria: 1. Contra-indications for 3T/7T MRI as determined by the 7Tesla safety committee. (exclusion for a subpart of the study) 2. Contraindications for lumbar puncture (exclusion for a subpart of the study) 3. Contraindications for [18F]Florbetaben PET-CT (TRACK D-CAA subgroup only)
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| • Long-term disease course in HCHWA-D Long-term disease course will be determined by the occurrence of presumably HCHWHA-D related symptoms; by cognitive performance (Mini Mental State Examination (MMSE), Frontal Assessment Battery (FAB); Montreal Cognitive Assessment (MoCa); Trail Making Test (TMT)), by use of the modified Rankin Scale (mRS), the National Institutes of Health Stroke Scale (NIHSS) and Barthell Index (BI). Hospital Anxiety and Depression Scale (HADS), Center for Epidemiologic Studies Depression Scale (CES-D), Neuropsychiatric Inventory Questionnaire (NPI-Q), Starkstein Apathy Scale and Prikkelbaarheids schaal (PS) questionnaires will be used for screening for depression, anxiety and psychopathology. Furthermore Headache/Migraine questionnaires will be performed.In the TRACK D-CAA subgroup only the following additional neuropsychological tests will be assessed annually: Controlled Oral Word Association Test (COWAT letters F-A-S), Boston Naming Test (BNT, 30-items), Cogstate computerized battery and Clinical Dementia Rating scale (short version; CDR-s). The following questionnaires will also be assessed annually: the International Physical Activity Questionnaire short form (IPAQ-SF), Verkorte Informant Vragenlijst over Cognitieve Achteruitgang bij Ouderen (IQCODE) and the Frenchay Activities Index (FAI). • Prevalence of biomarkers in CSF Concentrations of Aβ40, Aβ42, t-tau, and p-tau181 in CSF. • Prevalence of MRI markers The presence of microbleeds, microinfarcts,white matter hyperintensity, large perivascular spaces, striped cortex, cortical subarachnoid haemorrhage and/or superficial siderosis on 3 T and 7T MRI White matter tissue integrity will be assessed with quantitative MR measurements. Presence of beta-amyloid deposition derived from [18F]Florbetaben PET-CT with SUVR and centiloids as indicators of amyloid load in the TRACK D-CAA subgroup. | — |
Secondary
| Measure | Time frame |
|---|---|
| • Other study parameters Other parameters of this study will include date of birth, gender, current medical conditions, in women also information on female medical history such as number of pregnancies, menstruation cycle and menopause will be retrieved), daily intake alcohol/drugs/caffeine, smoking, medication, cardiovascular risk factors, neurologic history (including previous ischemic or hemorrhagic stroke), BMI, blood pressure and APOE genotype and, unless already known, the presence of the single base mutation at codon 693 of the amyloid precursor protein gene on chromosome 21. Blood samples will be analyzed for routine laboratory tests such as glucose, cholesterol spectrum, thrombocytes, APTT and PT). CSF samples will be analyzed for routine clinical parameters (cell count, protein, glucose). | — |
Countries
Netherlands
Outcome results
None listed