Clinical trial NCT05015244: Impact of Von Willebrand Factor-platelet Aggregates in Patients With Type 2B Disease
Official title: Impact of Von Willebrand Factor-platelet Aggregates in Patients With Type 2B Disease
Study type: INTERVENTIONAL
Overall status: UNKNOWN
Phase: NA
Conditions: Von Willebrand Disease, Type 2B
Keywords: VWF
Type 2B von willebrand disease
Lead sponsor: University Hospital, Caen
Sponsor class: OTHER
First posted: 2021-08-20
Enrollment: 5
Sex: ALL
Minimum age (years): 18
Maximum age (years): 70
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Allocation: NA
Intervention model: SINGLE_GROUP
Primary purpose: BASIC_SCIENCE

Brief summary: 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: 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.

Eligibility criteria: Inclusion Criteria:

* patients with type 2B disease
* neurological signs
* signature of inform consent

Exclusion Criteria:

* contraindication for MRI
* Pregnant women
* other hemorrhagic disease

Primary outcomes:
measure: Rate of cerebral lesions in patients with type 2B disease
timeFrame: at the inclusion
Secondary outcomes:
measure: Global cognitive function evaluation
timeFrame: at the inclusion
measure: Verbal memory function evaluation
timeFrame: at the inclusion
measure: Visuospatial memory evaluation
timeFrame: at the inclusion
measure: Speed of mental processes evaluation
timeFrame: at the inclusion
measure: Attention evaluation
timeFrame: at the inclusion
measure: Subjective cognitive failures evaluation
timeFrame: at the inclusion
Other outcomes:
Locations:
city: Caen
country: France
facility: University Hospital
state: Calvados
Study officials:
References: