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Introduction <p>Cerebrovascular diseases are a major cause of morbidity/mortality worldwide, yet more than 30% of strokes remain of undetermined origin. Rare cerebrovascular diseases (rCVDs) contribute to this burden but are often underdiagnosed due to limited awareness, clinical heterogeneity, and fragmented diagnostic access. The ALIGNED project was established to address these gaps through a nationwide multidisciplinary network.</p> Methods <p>ALIGNED was aimed to improve clinical/molecular characterization of rCVDs through standardized data collection, assess level of care of rCVDs by an online/on-site survey and reduce the geographical gap across Italy, by a virtual model of rCVDs care. In the first phase we conducted a survey to evaluate the availability of diagnostic/therapeutic pathways. Preliminary molecular profiling (i.e., transcriptomic/proteomic analyses) has been carried out on middle-cerebral artery and plasma samples from Moyamoya angiopathy (MMA) patients.</p> Results <p>Fourty-nine centers adhered to the project. Initially, we collected a cohort of 308 subjects with rCVDs: CADASIL (162), COL4A1/A2-related disease (9), Sneddon syndrome (25), Fabry disease (32), and MMA (80). Web-based survey and site visits provided a representative overview of national capabilities in rCVD diagnosis and care. Transcriptomic analysis showed a peculiar expression profile of angiogenesis growth factors/inhibitors in MMA cerebral vessels. Plasma proteomic profiles of MMA patients highlighted circulating proteins expressed in dysfunctional angiogenesis.</p> Discussion <p>Preliminary data suggested a substantial variability in the quality of rCVDs management and in the availability of diagnostic tools across Italy. Thus, mapping Italian expertise and facilities emerged as a crucial target for pinpointing gaps, improving resource allocation, standardizing rCVD care to guarantee equitable access for patients.</p>

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ALIGNED Network for rare cerebrovascular diseases: methodology and preliminary results

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年6月22日

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  • Carolina De Toma,
  • Antonella Potenza,
  • Nicola Rifino,
  • Camilla Strazzabosco,
  • Benedetta Storti,
  • Giulia Marinoni,
  • Tatiana Carrozzini,
  • Gemma Gorla,
  • Giuliana Pollaci,
  • Elisabetta Pasella,
  • Alice Mallia,
  • Isabella Canavero,
  • Giorgio Battista Boncoraglio,
  • Irene Scala,
  • Esteban Zacarias,
  • Giulia Fusi,
  • Francesca De Giorgi,
  • Matteo Foschi,
  • Simona Sacco,
  • Massimo Caulo,
  • Cristina Banfi,
  • Laura Gatti,
  • Anna Bersano

摘要

Introduction

Cerebrovascular diseases are a major cause of morbidity/mortality worldwide, yet more than 30% of strokes remain of undetermined origin. Rare cerebrovascular diseases (rCVDs) contribute to this burden but are often underdiagnosed due to limited awareness, clinical heterogeneity, and fragmented diagnostic access. The ALIGNED project was established to address these gaps through a nationwide multidisciplinary network.

Methods

ALIGNED was aimed to improve clinical/molecular characterization of rCVDs through standardized data collection, assess level of care of rCVDs by an online/on-site survey and reduce the geographical gap across Italy, by a virtual model of rCVDs care. In the first phase we conducted a survey to evaluate the availability of diagnostic/therapeutic pathways. Preliminary molecular profiling (i.e., transcriptomic/proteomic analyses) has been carried out on middle-cerebral artery and plasma samples from Moyamoya angiopathy (MMA) patients.

Results

Fourty-nine centers adhered to the project. Initially, we collected a cohort of 308 subjects with rCVDs: CADASIL (162), COL4A1/A2-related disease (9), Sneddon syndrome (25), Fabry disease (32), and MMA (80). Web-based survey and site visits provided a representative overview of national capabilities in rCVD diagnosis and care. Transcriptomic analysis showed a peculiar expression profile of angiogenesis growth factors/inhibitors in MMA cerebral vessels. Plasma proteomic profiles of MMA patients highlighted circulating proteins expressed in dysfunctional angiogenesis.

Discussion

Preliminary data suggested a substantial variability in the quality of rCVDs management and in the availability of diagnostic tools across Italy. Thus, mapping Italian expertise and facilities emerged as a crucial target for pinpointing gaps, improving resource allocation, standardizing rCVD care to guarantee equitable access for patients.