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NCT Number: NCT04310098

CADASIL Registry Study

The aim of this study is to determine the clinical spectrum and natural progression of Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) and related disorders in a prospective multicenter study, to assess the clinical, genetic and epigenetic features of patients with CADASIL , to optimize clinical management.

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Key information

Conditions

CADASIL Brain Diseases Brain Infarction Brain Ischemia Cardiovascular Diseases Central Nervous System Diseases Cerebral Arterial Diseases Cerebral Infarction Cerebral Small Vessel Diseases Cerebrovascular Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dementia Dementia, Vascular Genetic Diseases, Inborn Infarction Intracranial Arterial Diseases Ischemia Necrosis Nervous System Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Stroke Vascular Diseases

Age range

18 year–85 year

Sex eligibility

All sexes

Study type

Observational

Primary location

Department of Neurology , First Affiliated Hospital Fujian Medical University

Fuzhou, Fujian, 350004, China

Location status: Recruiting

Location contact

Cai Bin, PhD

CONTACT

[email protected]

13338413842 ext. 86

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Sign informed consent.
  • Age>18
  • Clinical diagnosis of patients with CADASIL,and confirmed by genetic test or skin biopsy
  • Asymptomatic NOTCH3 mutation carriers
  • Relatives of CADASIL patients or carriers
  • Unrelated healthy controls

Exclusion criteria

  • Unable to cooperate with inspectors
  • Serious systemic illness, such as heart, liver, kidney disease or major mental illness
  • Contraindications for imaging examination

Treatment and study plan

Primary outcomes

  1. Overall outcomes in CADASIL patients

    Time frame: From date of enrollment until the date of death from any cause, assessed up to 20years

    record the occurrence of stroke and use modified Rankin Scale (mRS) to measure the degree of disability or dependence in the daily activities of people who have suffered a stroke or other causes of neurological disability.

Secondary outcomes

  1. The correlation of genotype and phenotype

    Time frame: From date of enrollment until the date of death from any cause, assessed up to 20years

    Genotype is defined by NOTCH3 pathogenic variant position and phenotype is defined by clinical types and characteristics.

Study contacts

Contact information is provided by the study sponsor or research team.

Cai Bin, PhD

CONTACT

[email protected]

13338413842

Lin Yi, PhD

CONTACT

[email protected]

13615039153 ext. 86

Sponsors and collaborators

Lead sponsor

Bin Cai

Other

Registry information

Official study title

Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy Registry Study

Important dates

Study start
2020
Primary completion
2039
Study completion
2049
First posted
Mar 17, 2020
Registry last updated
Sep 28, 2023

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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