Investigating genetic and non-genetic factors in small vessel disease

Deciphering, Construction and Validation of Magnetic Resonance Imaging Maps, Clinical Features and Outcomes in Genetic and Nongenetic Cerebral Small Vessel Diseases

Observational National Taiwan University Hospital · NCT05473637

This study is trying to see how genetic and non-genetic factors affect people with small vessel disease in the brain by looking at their symptoms and MRI results over two years.

Quick facts

Study typeObservational
Enrollment500 (estimated)
Ages18 Years and up
SexAll
SponsorNational Taiwan University Hospital Academic / other
Locations1 site (Taipei)
Trial IDNCT05473637 on ClinicalTrials.gov

What this trial studies

This observational study enrolls patients exhibiting clinical and neuroimaging features of cerebral small vessel disease (CSVD). Participants will undergo next-generation sequencing (NGS) targeting five candidate genes associated with CSVD, allowing researchers to categorize them into genetic or non-genetic groups. The study aims to follow the clinical features and outcomes of these patients for a minimum of two years, utilizing MRI as a key diagnostic tool. By understanding the genetic and non-genetic factors involved, the study seeks to enhance the understanding of CSVD.

Who should consider this trial

Good fit: Ideal candidates include individuals with symptoms such as stroke, cognitive impairment, gait disturbances, or a family history of hereditary CSVD.

Not a fit: Patients with CSVD due to other inflammatory, malignancy, or structural lesions may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to improved diagnosis and management strategies for patients with cerebral small vessel diseases.

How similar studies have performed: While the approach of using genetic sequencing in this context is relatively novel, similar studies have shown promise in understanding genetic contributions to other vascular conditions.

Eligibility criteria

Show full inclusion / exclusion criteria
Inclusion Criteria:

Participants must have at least one of the following symptoms/signs or history

* stroke (especially small vessel occlusion type of ischaemic stroke, spontaneous ICH or young stroke)
* cognitive impairment or dementia
* gait disturbance
* parkinsonism (especially vascular parkinsonism features)
* headache (especially migraine)
* positive family history of hereditary CSVD
* MRI evidence of CSVD (MRI may be done for other reasons), including mild to moderate white matter hyper intensity, any lacune, or any cerebral microbleed

Exclusion Criteria:

* MRI evidence of CSVD due to other inflammatory, malignancy, or structural lesions
* patients or family members not willing to sign informed consent

Where this trial is running

Taipei

Study contacts

How to participate

  1. Review the eligibility criteria above with your treating physician.
  2. Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
  3. Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.
Conditions Cerebral Small Vessel DiseasesCadasilHTRA1-Related Autosomal Dominant Cerebral AngiopathyCOL4A1-Related Brain Small Vessel Disease With HaemorrhageFabry DiseaseMagnetic Resonance ImagingNext-generation SequencingStroke
Last reviewed 2026-06-13 by the Find a Trial editorial team. Information on this page is for educational purposes and is not medical advice. Always consult qualified healthcare professionals about clinical trial participation.