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Familial Cerebral Small Vessel Disease

  • Research type

    Research Study

  • Full title

    A UK Familial Cerebral Small Vessel Disease Study



  • Contact name

    Hugh Markus

  • Contact email

  • Sponsor organisation

    Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge

  • Duration of Study in the UK

    20 years, 0 months, 0 days

  • Research summary

    Some cases of apparent hereditary (or familial) stroke are currently not diagnose-able because, in such patients, the screening of all currently known cerebral small vessel disease (SVD) genes is negative for mutations. This means that patients with these conditions are unable to start any therapeutic treatment, and that neither they nor their specialist are aware of what is to be expected with their condition. Although rare, these monogenic forms of SVD are important for the individual patient and their family, and understanding the pathogenesis has important implications for our understanding of sporadic SVD.
    The proposed research project aims to 1) identify these currently unidentifiable conditions, 2) build a robust evidence base and source of information regarding the condition and its prognosis, and 3) work towards developing potential therapeutic interventions for those affected.
    Next generation screening technology offers the opportunity to identify the underlying genes in such patients/families. We would recruit patients with known monogenic forms of cerebral SVD, patients with suspected familial SVD, asymptomatic participants who are relative to either 1) patients with known monogenic forms of cerebral SVD, or 2) or in a family with suspected familial cerebral SVD.
    We aim to include individuals at all stages of disease - ranging from mutation positive individuals detected on pre-symptomatic testing, through to patients with cognitive impairment. We will recruit all patients who agree to consent. As this is an observational study there are no specific exclusion criteria beyond an unwillingness of the individual to consent.
    Participants will be followed-up at approximately annual intervals, either in person when they attend the clinic for a routine appointment, over the phone, or via their local specialist or GP. During these consultations, participants will provide a blood sample, and may be asked to provide a skin biopsy and undergo an MRI brain scan.

  • REC name

    East of England - Cambridge Central Research Ethics Committee

  • REC reference


  • Date of REC Opinion

    27 May 2016

  • REC opinion

    Further Information Favourable Opinion