An observational study in Cadasil and Blood Brain Barrier Defect, sponsored by Peking University First Hospital. Recruiting at 1 site in China. Open to participants aged 20 Years to 70 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2023-06-13.
Sponsored by Peking University First Hospital · Observational
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.
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.
33 studies on the registry are indexed under CADASIL; 18 are open to participants now.
This study's planned enrollment of 100 is below the median of 168 across 22 observational studies indexed under CADASIL.
Browse CADASIL studies →Peking University First Hospital is the lead sponsor of 390 studies on the registry; 186 are open to participants now.
Counted across the registry records on this site, refreshed daily.
All CADASIL patients and controls who met the criteria described below and who agreed to participate in this study were enrolled. All CADASIL patients included in this study have been visited at Peking University First Hospital, and the included controls were recruited from the community.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Biopsy and archival tissue
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Contraindication
A reason a treatment, test or procedure should not be given to a particular person, such as an allergy, another illness or a medicine they take.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
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.
Other: MRI
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.
All participants underwent an MR examination on a 3T whole-body Prisma MRI system (Siemens, Erlangen, Germany) with a 64-channel head coil, and a 7T whole-body MAGNETOM MR system (Siemens, Erlangen, Germany) using a 32-channel receive/birdcage transmit head coil (NOVA medical). DP-pCASL, Multi-delay pCASL (MD-pCASL) was acquired to evaluate BBB function and cerebral perfusion. T1-weighted magnetization-prepared rapid gradient echo (T1w-MPRAGE) was scanned at both 3T and 7T for registration in the post-processing workflow. T2-weighted fluid-attenuated inversion recovery (T2w-FLAIR) and T2\*-weighted gradient echo (T2\*w-GRE) were acquired at 7T for high-resolution structural images and evaluation of lesions.
Also known as: Cognitive Scale and Clinical Scale Evaluation
kw
Post-processing of DP-pCASL data was performed offline using LOFT BBB Toolbox. Head motion was corrected using SPM12 and the temporal fluctuations were minimized by using principal component analysis. DP-pCASL data with the b value of 50 s/mm2 were used to obtain the ASL signal from the tissue and capillary compartments respectively, and kw was quantified by using a single-pass approximation model with total generalized variation regularization.
Time frame: 30 Minutes
CBF
Post-processing of MD-pCASL data was performed offline using the BASIL toolkit of FSL. Cerebral blood flow (CBF) were calculated by a custom script using the BASIL toolkit of FSL.
Time frame: 30 Minutes
ATT
Post-processing of MD-pCASL data was performed offline using the BASIL toolkit of FSL. Arterial transit time (ATT) were calculated by a custom script using the BASIL toolkit of FSL.
Time frame: 30 Minutes
QSM
QSM image reconstruction, including phase pre-processing and estimation of susceptibility maps, followed the default QSMbox (https:// gitlab. com/ acostaj/ QSMbox) pipeline for single-echo, coil-combined data.
Time frame: 30 Minutes
Plan to share: No
Started Apr 2021 (actual). Primary completion is estimated for Apr 2025, 48 months after the start.
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