A network to improve diagnosis of rare cerebrovascular diseases in Italy
RAre, But Not aLone: a Large Italian Network to Empower the Impervious diaGNostic Pathway of Rare cerEbrovascular Diseases (ALIGNED)
This study is trying to create a network in Italy to help doctors better diagnose and manage rare brain blood vessel diseases like CADASIL and Moyamoya by collecting information from patients who have been diagnosed with these conditions.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 500 (estimated) |
| Ages | 18 Years and up |
| Sex | All |
| Sponsor | Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta Academic / other |
| Locations | 17 sites (Acquaviva delle Fonti, BA and 16 other locations) |
| Trial ID | NCT06935578 on ClinicalTrials.gov |
What this trial studies
This observational study aims to enhance the diagnostic pathway for rare cerebrovascular diseases (rCVDs) such as CADASIL and Moyamoya disease by creating a large Italian network. It focuses on patients who have been clinically, genetically, or neuroradiologically diagnosed with rCVDs and have undergone at least one brain MRI. The study seeks to gather data on the clinical course and phenotype of these diseases to improve recognition and management, including genetic counseling and potential therapies. By addressing the challenges of misdiagnosis and lack of data, the study aims to empower clinicians in identifying these rare conditions.
Who should consider this trial
Good fit: Ideal candidates for this study are patients diagnosed with rare cerebrovascular diseases such as CADASIL, Fabry's disease, COL4A1 syndrome, Sneddon's syndrome, or Moyamoya arteriopathy.
Not a fit: Patients without a clinical, genetic, or neuroradiological diagnosis of rare cerebrovascular diseases will not benefit from this study.
Why it matters
Potential benefit: If successful, this initiative could lead to more accurate diagnoses and better management strategies for patients with rare cerebrovascular diseases.
How similar studies have performed: While the approach of creating a network for rare disease diagnosis is not widely tested, similar initiatives in other rare disease contexts have shown promise in improving diagnostic accuracy.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Acquaviva delle Fonti, BA and 16 other locations
- Ospedale Regionale Generale "F. Miulli", Acquaviva delle Fonti — Acquaviva delle Fonti, Ba, Italy (Recruiting)
- ASST Melegnano Martesana — Melegnano, Mi, Italy (Recruiting)
- Neurologia Stroke Unit dell'Asst Rhodense — Rho, Mi, Italy (Recruiting)
- Fondazione Istituto G. Giglio, Cefalù — Cefalù, PA, Italy (Recruiting)
- UO Neurologia degli Ospedali di Cesena e Forlì, Ospedale Bufalini Cesena ed Ospedale Morgagni-Pierantoni (Ausl della Romagna) — Cesena, Italy (Recruiting)
- ASST di Cremona — Cremona, Italy (Recruiting)
- Ospedale "Spaziani" di Frosinone — Frosinone, Italy (Recruiting)
- U.O. Neurologia, Ospedale Sant'Andrea, La Spezia — La Spezia, Italy (Recruiting)
- ASST Grande Ospedale Metropolitano Niguarda — Milan, Italy (Recruiting)
- Fondazione IRCCS Istituto Neurologico Carlo Besta — Milan, Italy (Recruiting)
- Ospedale Luigi Sacco, ASST Fatebenefratelli Sacco — Milan, Italy (Recruiting)
- Stroke Unit Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano — Milan, Italy (Recruiting)
- IRCCS Policlinico San Matteo, Pavia — Pavia, Italy (Recruiting)
- Neurologia d'Urgenza e Stroke Unit dell'Ospedale di Pescara — Pescara, Italy (Recruiting)
- Neurologia dell'Ospedale Sandro Pertini - ASL Roma2 — Roma, Italy (Recruiting)
- Policlinico Tor Vergata, UOSD Stroke Unit — Roma, Italy (Recruiting)
- Neurologia PO Levante Asl 2 Savonese — Savona, Italy (Recruiting)
Study contacts
- Study coordinator: Anna Bersano, MD
- Email: anna.bersano@istituto-besta.it
- Phone: + 39 02.2394
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.