MRI Study of Blood-brain Barrier Function in CADASIL

Peking University

Status: Enrolling

Conditions: Blood Brain Barrier Defect; Cadasil

Treatments: Other: MRI

Study type: Observational

Funder types: Other

Identifiers

NCT05902039

2022-715

Details and patient eligibility

About

Diffusion prepared pseudo-continuous ASL (DP-pCASL) is a newly proposed MRI method to noninvasively measure the function of blood-brain barrier (BBB). The investigators aim to investigate whether the water exchange rate across the BBB, estimated with DP-pCASL, is changed in patients with CADASIL, and to analyze the association between BBB water exchange rate and MRI/clinical features in these patients.

Full description

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), caused by NOTCH3 gene mutations, is the most frequent monogenic type of hereditary cerebral small vessel disease (CSVD). The unique pathophysiological mechanisms that small vessel disorders in CADASIL are caused by genetic mutations and that the majority of patients do not combine cerebrovascular disease risk factors make CADASIL an ideal model for studying CSVD, and the imaging findings on CADASIL can be used to diagnose and investigate the etiology of CSVD. While abnormalities in the cerebrovascular structure and hemodynamics have been well demonstrated in CADASIL, the abnormality of the BBB remains controversial. One DCE-MRI study suggested an increase in BBB permeability to gadolinium contrast in CADASIL, whereas no abnormality of BBB was found in subsequent studies in mouse models and patients. The aim of this study was to assess whether BBB function is abnormal in patients with CADASIL using DP-pCASL, which is more sensitive to subtle changes in the BBB compared to DCE-MRI. The investigators hypothesized that the BBB water exchange rate (kw) is reduced in patients with CADASIL compared to controls as assessed by DP-pCASL and that the degree of reduction in BBB water exchange rate correlates with the severity of disease in patients with CADASIL.

Enrollment: 100 estimated patients

Sex: All

Ages: 20 to 70 years old

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

1. Patients with CADASIL confirmed by gene or/and skin biopsy.
2. The age range is 20-70 years old.
3. There is no contraindication to MRI examination, and the informed consent is signed.

Exclusion criteria

1. Combined with definite cerebrovascular disease, or combined with brain tumor, brain trauma and other causes of brain diseases.
2. CADASIL is not confirmed.
3. There are contraindications to examination or refusal to sign the informed consent.

Trial design

100 participants in 2 patient groups

CADASIL patients

Description:

Inclusion Criteria: 1. Patients with CADASIL confirmed by gene or/and skin biopsy. 2. The age range is 20-70 years old. 3. There is no contraindication to MRI examination, and the informed consent is signed. exclusion criteria： 1. Combined with definite cerebrovascular disease, or combined with brain tumor, brain trauma and other causes of brain diseases. 2. CADASIL is not confirmed. 3. There are contraindications to examination or refusal to sign the informed consent.

Treatment:

Other: MRI

Healthy controls

Description:

Inclusion Criteria: 1. The age range is 20-70 years old. 2. There is no contraindication to MRI examination, and the informed consent is signed. exclusion criteria： 1. Combined with definite cerebrovascular disease, or combined with brain tumor, brain trauma and other causes of brain diseases. 2. There are contraindications to examination or refusal to sign the informed consent.