An observational study in CADASIL, sponsored by Assistance Publique - Hôpitaux de Paris. Not yet recruiting. Open to participants aged 18 Years to 80 Years, including healthy volunteers. Per ClinicalTrials.gov, last updated 2025-03-05.
Sponsored by Assistance Publique - Hôpitaux de Paris · Observational
Cerebral small vessel diseases (cSVD) are diseases of brain tissue involving vessels (arterioles or capillaries) with a diameter of less than 400 microns. Within this group, CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is the most common familial form. CADASIL is due to mutations in the NOTCH3 gene located on chromosome 19. It is considered a unique model for the study of cSVD. CADASIL begins between the ages of 20 and 40, with the appearance of cerebral white matter hyper-signals visible on MRI. Before the age of 30, patients are usually asymptomatic. To date, there are no available treatments. To test new therapeutic approaches, we need biomarkers that are robust and sensitive enough to assess the effects of these treatments at an early stage of cSVD and over a relatively short period of time.
An ideal monitoring biomarker should be repeatedly and safely usable, easily accessible, accurate, reproducible and sensitive to disease progression or pharmacological intervention.
Alterations in neurovascular coupling (NVC) have been recognized as one of the earliest functional alterations occurring during cSVD. Cerebral functional magnetic resonance imaging (fMRI) is a brain imaging technique that measures the activity of brain areas in vivo by detecting local changes in blood flow. An important advantage of blood oxygen level-dependent functional MRI is that it enables the NVC to be probed in vivo, safely and repeatedly in humans.
Our central hypothesis is that functional MRI can provide such a biomarker for monitoring CNV disease progression in vivo using a dedicated fMRI protocol that can be used on a clinical MRI scanner, is reproducible and varies according to the severity of brain MRI lesions and/or clinical manifestations in CADASIL. A functional imaging study coupled with electroencephalogram has already revealed changes in the hemodynamic response to visual or motor stimuli in patients at the early stage of the disease. This study is exploring new imaging protocols to focus on the purest vascular response.
33 studies on the registry are indexed under CADASIL; 18 are open to participants now.
This study's planned enrollment of 70 is below the median of 168 across 22 observational studies indexed under CADASIL.
Browse CADASIL studies →Assistance Publique - Hôpitaux de Paris is the lead sponsor of 3,592 studies on the registry; 1,033 are open to participants now.
Counted across the registry records on this site, refreshed daily.
Patients with a known mutation in the NOTCH3 gene
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.
For CADASIL patients
For controls:
Exclusion criteria :
For patients
Person covered by articles L. 1121-5 to L. 1121-8 and L. 1122-12 of the French Public Health Code, defined by :
For controls :
Person covered by articles L. 1121-5 to L. 1121-8 and L. 1122-12 of the French Public Health Code, defined by :
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 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.
Short tests of memory and thinking, each scored out of 30. Lower scores suggest more difficulty; criteria give a range, either to include people with memory problems or to leave them out.
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.
MMSE and MoCA
Short tests of memory and thinking, each scored out of 30. Lower scores suggest more difficulty; criteria give a range, either to include people with memory problems or to leave them out.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Radiation: Functional MRI at 3T
Radiation: Functional MRI at 3T
Radiation: Functional MRI at 3T
At inclusion
At inclusion and at 2 years for CADASIL patients without severe disability (mRS\<4)
At inclusion and at 2 years for CADASIL patients without severe disability (mRS\<4)
Variation in BOLD response
Variation in BOLD response on functional MRI during short-duration visual stimuli (area under the curve) and parameters derived from this response curve at the calcarine scissure For all patients and controls
Time frame: At inclusion
Variation in BOLD response
Variation in BOLD response on functional MRI during short-duration visual stimuli (area under the curve) and parameters derived from this response curve at the calcarine scissure For CADASIL patients
Time frame: At 2 years
Correlations between parameters derived from the response curve and age
Time frame: Up to 2 years
Correlations between parameters derived from the response curve and gender
Time frame: Up to 2 years
Correlations between parameters derived from the response curve and cardiovascular risk factors
Time frame: Up to 2 years
Correlations between parameters derived from the response curve and modified Rankin score
Time frame: Up to 2 years
Correlations between parameters derived from the response curve and stroke frequency
Time frame: Up to 2 years
Correlations between parameters derived from the response curve and stroke number
Time frame: Up to 2 years
Correlations between parameters derived from the response curve and total brain volume
Time frame: Up to 2 years
Correlations between parameters derived from the response curve and cerebral parenchymal fraction
Time frame: Up to 2 years
Correlations between parameters derived from the response curve and normalized WMH (White matter hyperintensity)volume
Time frame: Up to 2 years
Correlations between parameters derived from the response curve and number of microbleeds
Time frame: Up to 2 years
Correlations between parameters derived from the response curve and number of lacunae
Time frame: Up to 2 years
No study locations are listed for this record.
Plan to share: Undecided
No publications or documents are linked to this record.
This study is not yet recruiting, as verified in Feb 2025. You cannot join it, but the record below documents what was studied.
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