CADASIL, CADASIL (Diagnosis), COL4A1\2, Fabry Disease, Moyamoya, Moya Moya Disease, Moyamoya Syndrome, Sneddon Syndrome
Conditions
Keywords
Rare Cerebrovascular Diseases, italian network, CADASIL, COL4A1 syndrome, Fabry Disease, Sneddon Syndrome, Moyamoya arteriopathy, COL4A1/2
Brief summary
Cerebrovascular diseases (CVDs) are one leading cause of morbidity and mortality worldwide. Despite intensive investigations, more than 30% of strokes remain of undetermined origin. Rare Cerebrovascular Diseases (rCVDs), including heritable (i.e., CADASIL, COL4A1 syndrome, Fabry disease) and acquired conditions (i.e., Sneddon syndrome, Moyamoya arteriopathy) account for a proportion of these strokes. However, rCVDs are often misdiagnosed since clinicians are not able to recognize them. Although rare, the identification of these stroke causes is important to establish appropriate management measures, including genetic counselling, and, if available, therapy. The lack of data on phenotype and clinical course of rCVDs, given the paucity of published series, makes the diagnosis and the development of therapies challenging. Furthermore, the molecular characterization of rCVDs is still lacking, despite progresses achieved in common stroke by applying high throughput approaches as multi-omics. Since the diagnosis and care of rCVDs require adequate expertise and instrumental tools, clinical and research activities are usually reserved to few specialized centers, mostly located in the North of Italy, leading patients to expensive trips for consultations. Therefore, the creation of a clinical and research network aimed at improving the diagnostic pathways of rCVDs is highly needed to improve the number of patients with rCVDs to better define the clinical phenotype and to transfer the knowledge on rCVDs in other centers overall Italy filling the geographical gap affecting Southern Italy.
Interventions
None listed
Sponsors
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* patients with a clinical, genetic and/or neuroradiological diagnosis of rCVD (CADASIL, Fabry's disease, COL4A1, Sneddon's syndrome or Moyamoya arteriopathy), who have had at least one brain MRI study;
Exclusion criteria
* na
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Describe the phenotypic characteristics of rCVD patients | 0-12 months | To describe the phenotypic characteristics of rCVD patients. All patients will complete a standardized neurological assessment consisting of anamnestic data collection (family history of neurological pathology, and in particular of rCVD, cardiovascular risk factors, medications taken, comorbidities, recent or previous head injuries) and a complete physical examination. |
| Assess the natural history of disease | 0-12 months | To develop a new, unique, and large registry on rCVDs recruiting a large number of patients (500) , patients will be recruited by all the participating clinical centers |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Identify the molecular mechanisms | 12-30 months | Identify the molecular mechanisms underlying rCVD, targeted/quantitative approaches will validate the emerged key molecular features (e.g by transcriptomic, proteomic, metabolomic, and lipidomic approaches). |
| Identify biomarkers | 12-30 months | Identify reliable and usable circulating biomarkers for the diagnosis of rCVD by applying mass spectrometry-based cutting-edge technologies for an unbiased identification of differentially abundant candidates (e.g. proteins or metabolites), and for their validation and simultaneous assessment in multi-marker panels |
| Provide the best clinical and therapeutic management | 12-30 months | Implement the virtual multi-specialty and multicenter rCVD case-sharing model in order to provide the best clinical and therapeutic management of the patients taken in. A team of specialists with expertise in each rCVD, comprising neurologists, neurosurgeons, neuro-radiologists, interventional radiologists, neuropsychiatrists, geneticists, neurophysiologists and/or psychologists, will schedule virtual monthly meetings to discuss the diagnosis and provide individual patients with the best diagnostic and management paths. A specific platform for second opinion consultations will be created by using the existing telemedicine platform. |
Countries
Italy
Outcome results
None listed