Genotype, Clinical Features and Imaging of Neuroradiological Abnormalities in CADASIL
NCT ID: NCT06938100
Last Updated: 2025-04-22
Study Results
The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.
Basic Information
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RECRUITING
100 participants
OBSERVATIONAL
2023-11-21
2027-10-31
Brief Summary
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\- Stratifying patients according to their disease risk, this could contribute to the discovery of personalized therapeutic targets.
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Detailed Description
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Conditions
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Study Design
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COHORT
PROSPECTIVE
Eligibility Criteria
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Inclusion Criteria
* finding of a pathogenic mutation on genetic analysis of NOTCH3;
* in the absence of unambiguous mutation, presence of characteristic deposits (GOM) within small vessels at skin biopsy
Exclusion Criteria
* are unable to give consent for the study due to aphasic or cognitive impairment or because they are deceased at the time of enrollment and their next of kin refuse to give consent for study participation.
18 Years
ALL
Yes
Sponsors
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Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
OTHER
Responsible Party
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Locations
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Fondazione IRCCS Istituto Neurologico Carlo Besta
Milan, , Italy
Hospital Universitario de la Princesa, Madrid
Madrid, , Spain
Countries
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Central Contacts
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Facility Contacts
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References
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Rutten JW, Van Eijsden BJ, Duering M, Jouvent E, Opherk C, Pantoni L, Federico A, Dichgans M, Markus HS, Chabriat H, Lesnik Oberstein SAJ. The effect of NOTCH3 pathogenic variant position on CADASIL disease severity: NOTCH3 EGFr 1-6 pathogenic variant are associated with a more severe phenotype and lower survival compared with EGFr 7-34 pathogenic variant. Genet Med. 2019 Mar;21(3):676-682. doi: 10.1038/s41436-018-0088-3. Epub 2018 Jul 22.
Ruchoux MM, Maurage CA. CADASIL: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy. J Neuropathol Exp Neurol. 1997 Sep;56(9):947-64.
Chabriat H, Joutel A, Dichgans M, Tournier-Lasserve E, Bousser MG. Cadasil. Lancet Neurol. 2009 Jul;8(7):643-53. doi: 10.1016/S1474-4422(09)70127-9.
Opherk C, Peters N, Herzog J, Luedtke R, Dichgans M. Long-term prognosis and causes of death in CADASIL: a retrospective study in 411 patients. Brain. 2004 Nov;127(Pt 11):2533-9. doi: 10.1093/brain/awh282. Epub 2004 Sep 13.
Other Identifiers
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GENICa
Identifier Type: -
Identifier Source: org_study_id
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