Impact of Von Willebrand Factor-platelet Aggregates in Patients With Type 2B Disease

Study Overview
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Brief Summary
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The working hypothesis is that patients with Von Willebrand Disease-type 2B may have neurological symptoms due to the chronic formation of platelets/Von Willebrand Factor aggregates. Interestingly, several patients present nonspecific neurological symptoms (nystagmus, headaches, memory disorder, …) which may be associated with cerebral microangiopathy and chronic microvessel inflammation secondary to Von Willebrand Disease-type 2B due to chronic exposure to Von Willebrand Factor-platelets complexes.

Detailed Description
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Investigator will use an extensive series of neuropsychological tests that cover virtually all cognitive domains. A measurement of global cognitive function will be assessed by the Mini Mental State Examination (MMSE). The verbal memory function will be assessed by the Rey Auditory Verbal Learning Test (RAVLT). Visuospatial memory will be administered by the Rey's Complex Figure Test (RCFT). To evaluate speed of mental processes, Stroop test (three subtasks), the Paper and Pencil Memory Scanning Task (four subtasks), the Symbol-Digit Substitution Task will be used. To evaluate attention, the verbal series attention test (VSAT) will be used. To register subjective cognitive failures investigator will administer the Cognitive failures questionnaire (CFQ). The neurological evaluation will be completed with 3T (Tesla) Magnetic Resonance Imaging (MRI) with different MRI sequences including T1 3D SPACE, FLAIR 3D , 3D SWI (Susceptibility weighted imaging) and 2D EPI (Echo Planar Imaging) to address the presence of cerebral small vessel disease. The presence of each of the four MRI markers for cerebral small vessel disease (white matter hyperintensities, lacunes, cerebral microbleeds and perivascular spaces will be addressed.

Official Title
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Impact of Von Willebrand Factor-platelet Aggregates in Patients With Type 2B Disease

Conditions
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Von Willebrand Disease, Type 2B

Intervention / Treatment
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* Procedure: 3T (Tesla) Magnetic Resonance Imaging (MRI)


Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: patients with type 2B disease neurological signs signature of inform consent Exclusion Criteria: contraindication for MRI Pregnant women other hemorrhagic disease

Ages Eligible for Study
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Minimum Age: 18 Years
Maximum Age: 70 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Basic Science
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Von Willebrand Disease Type 2B patient with neurological symptoms<br>evaluation of patients using 3T (Tesla) Magnetic Resonance Imaging (MRI) and series of neuropsychological tests that cover virtually all cognitive domains. | Procedure: 3T (Tesla) Magnetic Resonance Imaging (MRI)<br>* Neurological evaluation using MRI and neuropsychological tests<br>* Other names: Series of neuropsychological tests that cover virtually all cognitive domains;|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Rate of cerebral lesions in patients with type 2B disease | Analysis of MRI sequences and % of patients with cerebral lesions | at the inclusion | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Global cognitive function evaluation | Mini Mental State Examination (MMSE) will be used | at the inclusion | 
| Verbal memory function evaluation | Rey Auditory Verbal Learning Test (RAVLT) will be used | at the inclusion | 
| Visuospatial memory evaluation | Rey's Complex Figure Test (RCFT) will be used | at the inclusion | 
| Speed of mental processes evaluation | Stroop test will be used | at the inclusion | 
| Attention evaluation | Verbal series attention test (VSAT) will be used | at the inclusion | 
| Subjective cognitive failures evaluation | Cognitive failures questionnaire (CFQ) will be used | at the inclusion | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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VWF, Type 2B von willebrand disease