Clinical trial NCT06935578: RAre, But Not aLone: a Large Italian Network to Empower the Impervious diaGNostic Pathway of Rare cerEbrovascular Diseases (ALIGNED)
Official title: RAre, But Not aLone: a Large Italian Network to Empower the Impervious diaGNostic Pathway of Rare cerEbrovascular Diseases (ALIGNED)
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: CADASIL
CADASIL (Diagnosis)
Moya Moya Disease
Moyamoya
Moyamoya Syndrome
Sneddon Syndrome
Fabry Disease
COL4A1\2
Keywords: Rare Cerebrovascular Diseases
italian network
CADASIL
COL4A1 syndrome
Fabry Disease
Sneddon Syndrome
Moyamoya arteriopathy
COL4A1/2
Lead sponsor: Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Sponsor class: OTHER
First posted: 2025-04-20
Enrollment: 500
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: NON_PROBABILITY_SAMPLE
Study population: Adults, male and female patients affected by a Rare Cerebrovascular Disease (rCVD)

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.


Eligibility criteria: 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

Primary outcomes:
measure: Describe the phenotypic characteristics of rCVD patients
timeFrame: 0-12 months
measure: Assess the natural history of disease
timeFrame: 0-12 months
Secondary outcomes:
measure: Identify the molecular mechanisms
timeFrame: 12-30 months
measure: Identify biomarkers
timeFrame: 12-30 months
measure: Provide the best clinical and therapeutic management
timeFrame: 12-30 months
Other outcomes:
Locations:
city: Acquaviva delle Fonti
country: Italy
facility: Ospedale Regionale Generale "F. Miulli", Acquaviva delle Fonti
state: BA
city: Melegnano
country: Italy
facility: ASST Melegnano Martesana
state: MI
city: Rho
country: Italy
facility: Neurologia Stroke Unit dell'Asst Rhodense
state: Mi
city: Cefalù
country: Italy
facility: Fondazione Istituto G. Giglio, Cefalù
state: PA
city: Cesena
country: Italy
facility: UO Neurologia degli Ospedali di Cesena e Forlì, Ospedale Bufalini Cesena ed Ospedale Morgagni-Pierantoni (Ausl della Romagna)
city: Cremona
country: Italy
facility: ASST di Cremona
city: Frosinone
country: Italy
facility: Ospedale "Spaziani" di Frosinone
city: La Spezia
country: Italy
facility: U.O. Neurologia, Ospedale Sant'Andrea, La Spezia
city: Milano
country: Italy
facility: ASST Grande Ospedale Metropolitano Niguarda
city: Milano
country: Italy
facility: Fondazione IRCCS Istituto Neurologico Carlo Besta
city: Milano
country: Italy
facility: Ospedale Luigi Sacco, ASST Fatebenefratelli Sacco
city: Milano
country: Italy
facility: Stroke Unit Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano
city: Pavia
country: Italy
facility: IRCCS Policlinico San Matteo, Pavia
city: Pescara
country: Italy
facility: Neurologia d'Urgenza e Stroke Unit dell'Ospedale di Pescara
city: Roma
country: Italy
facility: Neurologia dell'Ospedale Sandro Pertini - ASL Roma2
city: Roma
country: Italy
facility: Policlinico Tor Vergata, UOSD Stroke Unit
city: Savona
country: Italy
facility: Neurologia PO Levante Asl 2 Savonese
Study officials:
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