Ireland
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Active, not recruiting Observational

Hereditary Cerebral Small Vessel Diseases Registry-Trial Ready Cohort

NCT06512376 · tracked via the Priya Life Science China tracker
Phase
Observational
Started
2022-07-19
Last updated
2024-07-22

Condition(s) studied

Cerebral Small Vessel DiseasesHereditary

Study summary

We took hereditary cerebral small vessel disease (hCSVD) patients as our main subjects, aiming to establish a platform for a comprehensive evaluation and long-term follow-up. Deeply explore the pathophysiological mechanism of hCSVD, which may render the theoretical basis for the treatment and management of hCSVD.

Eligibility

Sex
ALL
Min age
—
Max age
—
Healthy volunteers
No
Inclusion Criteria: 1. All ages, male or female 2. Carriers of the pathogenic genes mutation (mutation with unknown clinical significance/ suspected pathogenic mutation/ pathogenic mutation) of hCSVD confirmed by the gene tests, including but not limited to NOTCH3, HTPA1, CTSA, GLA, TREX1, COL4A1/2, or highly-suspected hCSVD2 3. CSVD related abnormalities on brain MRI, any 1 or more of: 1. White matter hyperintensities, Fazekas score3 ≥1 2. ≥1 newly-occurred lacunar infarcts 3. ≥1 old lacunar infarcts 4. ≥3 cerebral microbleeds 4. Informed consent signed Exclusion Criteria: 1. Diagnosis of mental disorders according to DSM-V and unable to be compliant to the research 2. Patients with life expectancy less than one year due to any advanced disease, e.g., malignant tumor 3. Patients unable to return for follow-up visits due to some reasons

Primary outcome measure(s)

  • The epidemiological features — at baseline
    Any epidemiological informations
  • The clinical features — 5 years
    Clinical symptoms and physical examination
  • The radiography features — at baseline
    Neuroimaging markers collected by MRI
  • A novel pathogenic gene for hereditary cerebrovascular disease in the Chinese population — at baseline
    Genetic testing with the blood sample

Trial sites (1)

FacilityCityRegionStatus
Beijing Tiantan Hospital Beijing China
Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT06512376 on ClinicalTrials.gov ↗ ← All trials in China