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NCT Number: NCT06935578

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

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.

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Key information

Conditions

CADASIL Arterial Occlusive Diseases Brain Diseases Brain Diseases, Metabolic Brain Diseases, Metabolic, Inborn Brain Infarction Brain Ischemia CADASIL (Diagnosis) COL4A1\2 Cardiovascular Diseases Carotid Artery Diseases Central Nervous System Diseases Cerebral Arterial Diseases Cerebral Infarction Cerebral Small Vessel Diseases Cerebrovascular Disorders Congenital, Hereditary, and Neonatal Diseases and Abnormalities Dementia Dementia, Vascular Disease Fabry Disease Genetic Diseases, Inborn Genetic Diseases, X-Linked Infarction Intracranial Arterial Diseases Ischemia Lipid Metabolism Disorders Lipid Metabolism, Inborn Errors Lipidoses Lysosomal Storage Diseases Lysosomal Storage Diseases, Nervous System Metabolic Diseases Metabolism, Inborn Errors Moya Moya Disease Moyamoya Moyamoya Disease Moyamoya Syndrome Necrosis Nervous System Diseases Nutritional and Metabolic Diseases Pathologic Processes Pathological Conditions, Signs and Symptoms Skin Diseases Skin Diseases, Vascular Skin and Connective Tissue Diseases Sneddon Syndrome Sphingolipidoses Stroke Vascular Diseases

Age range

18 year and older

Sex eligibility

All sexes

Study type

Observational

Primary location

Ospedale Regionale Generale "F. Miulli", Acquaviva delle Fonti, Acquaviva delle Fonti, BA, Italy

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Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. Describe the phenotypic characteristics of rCVD patients

    Time frame: 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.

  2. Assess the natural history of disease

    Time frame: 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 outcomes

  1. Identify the molecular mechanisms

    Time frame: 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).

  2. Identify biomarkers

    Time frame: 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

  3. Provide the best clinical and therapeutic management

    Time frame: 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.

Study contacts

Contact information is provided by the study sponsor or research team.

Anna Bersano, MD

CONTACT

[email protected]

+ 39 02.2394

Sponsors and collaborators

Lead sponsor

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

Other

Registry information

Acronym: ALIGNED

Important dates

Study start
2023
Primary completion
2026
Study completion
2026
First posted
Apr 20, 2025
Registry last updated
Feb 24, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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