Clinical Trials in Italy / NCT06938100
Recruiting
Observational
Genotype, Clinical Features and Imaging of Neuroradiological Abnormalities in CADASIL
NCT06938100 · tracked via the Priya Life Science Italy tracker
Condition(s) studied
CADASILCADASIL (Diagnosis)
Study summary
The project aims to retrospectively and prospectively analyze a population of CADASIL patients in order to study the natural history of the disease by correlating the symptom spectrum with genetic risk and specific neuroradiological and biological markers
\- Stratifying patients according to their disease risk, this could contribute to the discovery of personalized therapeutic targets.
Eligibility
Inclusion criteria:
* patients of either sex older than 18 years of age;
* 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:
* do not meet the diagnostic criteria of CADASIL;
* 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.
Primary outcome measure(s)
- Deepen the knowledge of the clinical phenotype CADASIL patient — T0- T1 (24 months)
Each patient with CADASIL will undergo to neuroimaging, correlating it with genotype (NOTCH3 gene mutation search outcome), clinical (e.g., the index event, cerebrovascular risk factors, associated manifestations) and instrumental (radiological) characterization. - Identify potentially reversible risk factors for disease progression — 0-24 months
At baseline, each patient will undergo collection of demographic and clinical data (e.g., the index event, cerebrovascular risk factors, associated manifestations). Disability will be assessed with the modified Rankin Scale (mRS). Neuropsychological assessment will include administration of the Montreal Cognitive Assesment (MoCA) as a screening test. Some components of executive functions will be assessed by Frontal Assesment Battery (F.A.B) scale as a screening test of executive functions, Trail Making Test (TMT) A and B to assess visual search, psychomotor speed and selective attention (TMT test A) and in addition divided and alternating attention and cognitive flexibility by TMT test B, Attentional Matrices to assess sustained attention and visual search and Modified Five Point Test to assess spatial fluency. Finally by means of the Forward Word Span and Backward Digit Span, Verbal Short-Term Memory and Working Memory will be assessed. Alongside the neuropsychological assessment of
Trial sites (2)
| Facility | City | Region | Status |
|---|---|---|---|
| Fondazione IRCCS Istituto Neurologico Carlo Besta | Milan | Italy | Recruiting |
| Hospital Universitario de la Princesa, Madrid | Madrid | Spain | Not Yet Recruiting |
More Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta trials in Italy
Official registry record
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
View NCT06938100 on ClinicalTrials.gov ↗ ← All trials in Italy