RAre, But Not aLone: a Large Italian Network to Empower the Impervious diaGNostic Pathway of Rare cerEbrovascular Diseases (ALIGNED)

Recruiting now

Conditions studied: CADASIL, CADASIL (Diagnosis), Moya Moya Disease, Moyamoya, Moyamoya Syndrome, Sneddon Syndrome, Fabry Disease, COL4A1\2

In brief

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.

Key facts

Study ID

NCT06935578

Run by

Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta

People needed

500

Starts

2023-05-01

Expected to finish

2026-05-19

Last updated by the study team

2026-02-24

Who can join

Age: 18 and older. Sex: any. Healthy volunteers: not accepted.

You may qualify if…

• 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;

You may not qualify if…

• na

Where it is running

• Stroke Unit Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano — Milan, Italy (enrolling)
• IRCCS Policlinico San Matteo, Pavia — Pavia, Italy (enrolling)
• Neurologia d'Urgenza e Stroke Unit dell'Ospedale di Pescara — Pescara, Italy (enrolling)
• Neurologia dell'Ospedale Sandro Pertini - ASL Roma2 — Roma, Italy (enrolling)
• Policlinico Tor Vergata, UOSD Stroke Unit — Roma, Italy (enrolling)
• Neurologia PO Levante Asl 2 Savonese — Savona, Italy (enrolling)
• Ospedale Regionale Generale "F. Miulli", Acquaviva delle Fonti — Acquaviva delle Fonti, BA, Italy (enrolling)
• ASST Melegnano Martesana — Melegnano, MI, Italy (enrolling)
• Neurologia Stroke Unit dell'Asst Rhodense — Rho, Mi, Italy (enrolling)
• Fondazione Istituto G. Giglio, Cefalù — Cefalù, PA, Italy (enrolling)
• UO Neurologia degli Ospedali di Cesena e Forlì, Ospedale Bufalini Cesena ed Ospedale Morgagni-Pierantoni (Ausl della Romagna) — Cesena, Italy (enrolling)
• ASST di Cremona — Cremona, Italy (enrolling)
• Ospedale "Spaziani" di Frosinone — Frosinone, Italy (enrolling)
• U.O. Neurologia, Ospedale Sant'Andrea, La Spezia — La Spezia, Italy (enrolling)
• ASST Grande Ospedale Metropolitano Niguarda — Milan, Italy (enrolling)
• Fondazione IRCCS Istituto Neurologico Carlo Besta — Milan, Italy (enrolling)
• Ospedale Luigi Sacco, ASST Fatebenefratelli Sacco — Milan, Italy (enrolling)

Full record on ClinicalTrials.gov

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