Severe Congenital Hemostatic Defects, Cerebral MIcrobleeds and COGnition

NCT ID: NCT06090201

Last Updated: 2023-10-19

Basic Information

• Recruitment Status: NOT_YET_RECRUITING
• Total Enrollment: 200 participants
• Study Classification: OBSERVATIONAL
• Study Start Date: 2023-11-30
• Study Completion Date: 2026-08-31

Brief Summary

Cerebral microbleeds (CMBs) are haemosiderin deposits, resulting from the leakage of erythrocytes from small cerebral vessels, which can be detected noninvasively using susceptibility-sensitive magnetic resonance imaging (MRI) techniques. CMBs are commonly observed in daily practice: their prevalence range from five percent in healthy individuals over 65 years old to 50% in patients with a history of stroke. CMBs are associated with intracerebral hemorrhage (ICH) and also cognitive impairment and dementia.

The pathophysiology of CMBs is thought to primarily involve damage to brain microvasculature but the exact underlying cascade of events, including a potential role for haemostasis, has yet to be elucidated. Haemostatic defects (congenital or acquired) may contribute to an increased number and importance of CMBs. Congenital bleeding disorders such as haemophilia or von Willebrand disease (vWD), populations at high risk of ICH, are unique conditions that may give us further insights into a potential role of haemostatic defects in the pathophysiology of CMBs. CMBs might be the missing link between severe haemostatic defects, ICH risk and cognitive function.

We hypothesized that severe congenital haemostatic defects could contribute to an increased prevalence and number of CMBs, with an impact on cognition in adulthood.

Conditions

Cerebral Microbleeds, Congenital Haemophilia, Congenital Von Willebrand Disease

Study Design

• Observational Model Type: COHORT
• Study Time Perspective: CROSS_SECTIONAL

Interventions

3-Tesla brain MRI and a comprehensive neuropsychological assessment

Patients with a moderate to severe form of congenital haemophilia A or B or a severe form of von Willebrand disease will be consecutively recruited in the study during a routine follow-up visit at the Haemostasis and Transfusion Department of the Lille University Hospital.

Intervention Type: OTHER

Eligibility Criteria

Inclusion Criteria

• Male or female, older than 18 years old, no upper age limit
• Adult patients with a severe congenital haemostatic defect

• Severe or moderate congenital haemophilia A (or B) defined as <5 IU/dL (<5%) endogenous FVIII (FIX) activity at screening
• Severe von Willebrand disease defined as VWF: Act ≤15IU/dL (<15%) at screening
• Ability of the participant to provide signed and dated informed consent

Exclusion Criteria

• Contraindication for brain MRI
• HIV infection to avoid a bias towards severe multifactorial neurological complications
• Other known coagulation disorder(s) in addition to haemophilia or von Willebrand disease
• Lack of informed consent

• Minimum Eligible Age: 18 Years
• Eligible Sex: ALL
• Accepts Healthy Volunteers: No

Sponsors

University Hospital, Lille

OTHER

Sponsor Role: lead

Responsible Party

Responsibility Role: SPONSOR

Other Identifiers

2022_0601

Identifier Type: -

Identifier Source: org_study_id