NCT06859658 · NOT YET RECRUITING
Development and Validation of a Functional MRI Biomarker of Cerebral Small Vessel Dysfunction in CADASIL
This study is testing whether a specific type of brain MRI scan can reliably detect early blood vessel dysfunction in people with CADASIL, a rare inherited disease that damages small blood vessels in the brain. Researchers want to know if the scan is accurate, repeatable, and sensitive enough to track disease progression over time. The phase is unspecified, meaning this is primarily a biomarker development and validation effort, not a drug trial.
Eligibility criteria
Inclusion criteria : For CADASIL patients * Age between 18 and 80 at the time of inclusion * Diagnosis confirmed by detection of a pathogenic mutation in the NOTCH3 gene characteristic of CADASIL. * Beneficiaries of a health insurance. * Written consent. For controls: * Age between 18 and 80 at the time of inclusion * Beneficiary of a health insurance. * Written consent Exclusion criteria : For patients * Contraindication to MRI examination * Disability: Rankin score ≥ 4 * Moderate to severe dementia according to DSM 5 criteria or MMSE score ≤ 19 * Person covered by articles L. 1121-5 to L. 1121-8 and L. 1122-12 of the French Public Health Code, defined by : * Pregnant, parturient or breast-feeding woman * Person deprived of liberty by judicial or administrative decision. * Persons hospitalized without consent and not under legal protection, and persons admitted to a health or social establishment for purposes other than research. * Minor * Person of full age subject to a legal protection measure (guardianship, curatorship or safeguard of justice), person of full age unable to give consent and not subject to a protection measure. * Person subject to a period of exclusion for another research project For controls : * Contraindication to MRI examination * Known cognitive complaint or deficit * Presence of significant disability (mRS >1) * Focal neurological motor, sensory or visual deficit on clinical examination that may impair visual or motor stimulation tests * History of neurological or psychiatric disease * History of migraine attacks with aura * Vascular history (known disease of peripheral arteries, heart or brain) * Known or treated diabetes * Known or treated hypercholesterolemia * Known or treated hypertension * Active smoking or smoking cessation within the last year * Regular alcohol consumption corresponding to > 2 glasses/day for men and 1 glass/day for women in wine equivalent * Treatment likely to interfere with neurovascular coupling (in particular any treatment with non-steroidal anti-inflammatory drugs, psychotropic drug(s), antihypertensive drug(s) or statins) * Person covered by articles L. 1121-5 to L. 1121-8 and L. 1122-12 of the French Public Health Code, defined by : * Pregnant, parturient or breast-feeding woman * Person deprived of liberty by judicial or administrative decision * Persons hospitalized without consent and not under legal protection, and persons admitted to a health or social institution for purposes other than research. * Minor * Person of full age subject to a legal protection measure (guardianship, curatorship or safeguard of justice), person of full age unable to give consent and not subject to a protection measure. * Person subject to a period of exclusion for another research project
The sponsor's own eligibility wording, lightly reformatted. The study team makes the final eligibility decision — worth discussing with your doctor.
Eligibility criteria as of 2025-03-05