Follow-up study of amyloid detection in HCHWA-D patients, a monogenetic variant of cerebral amyloid angiopathy

Follow-up study of amyloid detection in HCHWA-D patients, a monogenetic variant of cerebral amyloid angiopathy - Follow-up of amyloid in HCHWA-D

Status

Active, not recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON45250

Enrollment

Registered

2017-03-16

Start date

2017-04-20

Completion date

Unknown

Last updated

2024-02-28

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Hereditary Cerebral Hemorrhage With Amyloidosis-Dutch type Katwijk disease

Interventions

amyloid

Cerebral Amyloid Angiopathy (CAA)

Hereditary Cerebral Hemorrhage with Amyloidosis- Dutch type (HCHWA-D)

Eligibility

Age

18 Years to 64 Years

Inclusion criteria

Inclusion criteria: Participant in the previous study.;- HCHWA-D mutation carriers * Ability and willingness to provide written informed consent (see appendix). * Age *18 years old.;- Control subjects * Age *18 years old.

Exclusion criteria

Exclusion criteria: - Other definite cause of hemorrhage. Exclusion causes are excessive anticoagulation (INR >3.0), antecedent head trauma or ischemic stroke, CNS tumor, vascular malformation, vasculitis, and blood dyscrasia. - Contra-indication to MRI scanning: * Claustrophobia * Pacemakers and defibrillators * Nerve stimulators * Intracranial clips * Intraorbital or intraocular metallic fragments * Cochlear implants * Ferromagnetic implants * Hydrocephalus pump * Intra-utrine device * An iron wire behind the teeth * Permanent make-up * Tattoos above the shoulders - Specific contraindications to fMRI * History of ischemic stroke, transient ischemic attack, carotid/intracranial artery stenosis. * Seizure within prior year. * Noncorrectable visual impairment. - Severe physical restrictions (completely wheelchair dependent) - Contraindications for a lumbar puncture, including any tumour, compressio medullae, signs and symptoms of increased intracranial pressure, local infections of the skin, and a coagulopathy including use of anti-coagulant drugs or platelet-inhibitors.

Design outcomes

Primary

Measure	Time frame
1) 7T: The quantitative measure of phase shifts, visual score of cortical microinfarcts and striped cortex 2) 3T: WMH and DPVS volume and measurement of vascular reactivity, 3) CSF concentrations of Aß40 and Aß42, 4) Estimation of clinical severity and disease progression of HCHWA-D by using neurological and neuropsychological standardized tests.	—

Countries

The Netherlands

Outcome results

None listed

Source: NL-OMON (via WHO ICTRP)