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Recruiting NCT06090201

Severe Congenital Hemostatic Defects, Cerebral MIcrobleeds and COGnition

— Observational Cerebral Microbleeds, Congenital Haemophilia, Congenital Von Willebrand Disease

For patients and families

In plain language

An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.

What is being studied
The protocol lists: 3-Tesla brain MRI and a comprehensive neuropsychological assessment.
Who it may be relevant to
Registry conditions: Cerebral Microbleeds, Congenital Haemophilia, Congenital Von Willebrand Disease. Basic parameters: from 18 years · All.
What needs checking
Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
Where it takes place
France
Next step
Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →

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Official title

Cerebral Microbleeds in Severe Congenital Hemostatic Defects: Prevalence and Impact on Cognition

Overview

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.

Interventions

  • Other 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.

Primary outcome measures

  • The rate of patients with at least one CMB on 3-Tesla brain MRI (using specific sequences dedicated to the detection of CMBs). [Time frame: Within 3 Months after inclusion]
Secondary outcome measures (10)
  • Number and anatomical location (deep/lobar) of CMBs on 3-Tesla brain MRI [Time frame: Within 3 Months after inclusion]
  • Multi-domain cognitive performances assessed by standardized scales as follows [Time frame: Within 3 Months after inclusion]
  • Multi-domain cognitive performances assessed by standardized scales as follows [Time frame: Within 3 Months after inclusion]
  • Multi-domain cognitive performances assessed by standardized scales as follows [Time frame: Within 3 Months after inclusion]
  • Multi-domain cognitive performances assessed by standardized scales as follows [Time frame: Within 3 Months after inclusion]
  • Multi-domain cognitive performances assessed by standardized scales as follows [Time frame: Within 3 Months after inclusion]
  • Multi-domain cognitive performances assessed by standardized scales as follows [Time frame: Within 3 Months after inclusion]
  • Multi-domain cognitive performances assessed by standardized scales as follows [Time frame: Within 3 Months after inclusion]
  • Multi-domain cognitive performances assessed by standardized scales as follows [Time frame: Within 3 Months after inclusion]
  • Multi-domain cognitive performances assessed by standardized scales as follows [Time frame: Within 3 Months after inclusion]

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

Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.

Healthy volunteers: No

Study design

Observational model
Cohort

Study locations

France · 1 center
  • chu de Lille — Lille

Identifiers

NCT: NCT06090201 · 2022_0601

Primary sources (government registries)

View this study on ClinicalTrials.gov ↗