Evidence map›Paper›PMID 41561324›Full record

ArticleFrontiers in neurology2025

Natural history of familial cerebral cavernous malformations: the CCM_Italia cohort study.

Silvia Lanfranconi, Elisa Scola, Deborah Novelli, Anna Poggesi, Francesca Pescini, Marco Pavanello, Ferruccio Romano, Quintino Giorgio D'Alessandris, Walter Marani, Francesco Signorelli and 25 more

Registry-linked trialAbstract read
In one paragraph

Article in Frontiers in neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06983132 (Natural History of Familial Cerebral Cavernous Malformations), which is not on this map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

NCT06983132 recruitingnot on this map

Natural History of Familial Cerebral Cavernous Malformations: the CCM_Italia Cohort Study

Typeobservational_patient_registrySponsorFondazione IRCCS Ca' Granda, Ospedale Maggiore PoliclinicoRan2024 to 2027Enrolled100ConditionsCCM, Familial Cerebral Cavernous MalformationArmsCerebral imaging (MRI) according to a dedicated protocol with central MRI reading, Determination of circulating biomarkers
3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

35 authors.

Silvia LanfranconiDepartment of Neurology, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
Elisa ScolaDepartment of Neuroradiology, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
Deborah NovelliDepartment of Acute Brain and Cardiovascular Injury, Institute for Pharmacological Research Mario Negri IRCCS, Milan, Italy.
Anna PoggesiNEUROFARBA Department, Neuroscience Section, University of Florence, Florence, Italy.
Francesca PesciniStroke Unit, Careggi University Hospital, Florence, Italy.
Marco PavanelloDepartment of Neurosurgery, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Ferruccio RomanoUnit of Genomics and Clinical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Quintino Giorgio D'AlessandrisDepartment of Neurosurgery, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy.
Walter MaraniDivision of Neurosurgery, Department of Translational Biomedicine and Neurosciences (DiBraiN), University "Aldo Moro" of Bari, Bari, Italy.
Francesco SignorelliDivision of Neurosurgery, Department of Translational Biomedicine and Neurosciences (DiBraiN), University "Aldo Moro" of Bari, Bari, Italy.
Giorgio IaconettaClinica Neurochirurgica, Dipartimento di Medicina, Chirurgia e Odontoiatria, Scuola Medica Salernitana, Università degli Studi di Salerno, Salerno, Italy.
Giovanni TorelliClinica Neurochirurgica, Dipartimento di Medicina, Chirurgia e Odontoiatria, Scuola Medica Salernitana, Università degli Studi di Salerno, Salerno, Italy.
Enrico FainardiNeuroradiology Unit, Department of Experimental and Clinical Biomedical Sciences, University of Florence, Florence, Italy.
Mariasavina SeverinoNeuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Luigi Gianmaria RemoreNeurosurgery, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
Giulio Andrea BertaniNeurosurgery, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
Giorgio ConteDepartment of Neuroradiology, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
Valeria CapraUnit of Genomics and Clinical Genetics, IRCCS Istituto Giannina Gaslini, Genoa, Italy.
Antonella VasamìDepartment of Acute Brain and Cardiovascular Injury, Institute for Pharmacological Research Mario Negri IRCCS, Milan, Italy.
Enrico NicolisDepartment of Acute Brain and Cardiovascular Injury, Institute for Pharmacological Research Mario Negri IRCCS, Milan, Italy.
Giorgia ContinoDepartment of Acute Brain and Cardiovascular Injury, Institute for Pharmacological Research Mario Negri IRCCS, Milan, Italy.
Dario RonchiDepartment of Neurology, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
Maria Chiara PalmieriDepartment of Neurology, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
Alessandra PrevitaliDepartment of Neurology, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
Pier Paolo MattognoDepartment of Neurosurgery, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy.
Carmelo Lucio SturialeDepartment of Neurosurgery, Fondazione Policlinico Universitario A. Gemelli IRCCS, Università Cattolica del Sacro Cuore, Rome, Italy.
Maria Elena SolarinoUOC Radiodagnostica Universitaria Policlinico di Bari, Bari, Italy.
Rita CaliuloClinica Neurochirurgica, Dipartimento di Medicina, Chirurgia e Odontoiatria, Scuola Medica Salernitana, Università degli Studi di Salerno, Salerno, Italy.
Maria Teresa BozziDivision of Neurosurgery, Department of Translational Biomedicine and Neurosciences (DiBraiN), University "Aldo Moro" of Bari, Bari, Italy.
Filippo FratiniNEUROFARBA Department, Neuroscience Section, University of Florence, Florence, Italy.
Elisa R ZanierDepartment of Acute Brain and Cardiovascular Injury, Institute for Pharmacological Research Mario Negri IRCCS, Milan, Italy.
Roberto LatiniDepartment of Acute Brain and Cardiovascular Injury, Institute for Pharmacological Research Mario Negri IRCCS, Milan, Italy.
Jennifer Marie Theresia Anna MeessenDepartment of Acute Brain and Cardiovascular Injury, Institute for Pharmacological Research Mario Negri IRCCS, Milan, Italy.
Marco LocatelliDepartment of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
and the CCM_Italia investigators

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Familial cerebral cavernous malformations (fCCMs) are a rare genetic autosomal dominant cerebrovascular disease characterized by multiple cerebral and spinal angiomas. The condition is caused by mutations in KRIT1 (CCM1), CCM2 (malcavernin), or PDCD10 (CCM3) and may lead to intracerebral hemorrhage (ICH) or non-hemorrhagic focal neurological deficits (FNDs), potentially leading to severe disability and even death. To date, little is known about disease progression, and tools to identify patients at higher risk are lacking. Methods: Pediatric and adult fCCM patients, whether symptomatic or asymptomatic, will be enrolled and followed annually over a 2-year period. Participants will undergo clinical assessments, blood sampling, and 3 T brain MRI scans at baseline, 12 months, and 24 months. The primary outcome is the new occurrence of symptomatic ICH or FNDs attributable to CCMs over 24 months. Patient characteristics will be assessed for the primary and secondary endpoints and illustrated using Kaplan-Meier curves and Cox proportional hazard regressions. This trial is registered with ClinicalTrials.gov, NCT06983132 and is currently recruiting participants. Discussion/conclusion: Despite increasing efforts in basic and clinical research and an improved understanding of the pathogenic mechanisms underlying fCCM, tools to predict disease progression, identify at-risk individuals, and pinpoint effective therapeutic targets are still lacking. This study aims to create the largest Italian cohort of fCCM patients, who will be monitored closely over time to collect data that may help identify risk factors and disease trajectories. The collection of standardized information on clinical and radiological evolution, along with results from circulating biomarkers, will help address the complexities of the disease and may suggest potential reliable markers of disease progression. Clinical trial registration: ClinicalTrials.gov, identifier NCT06983132.

Indexed as

cerebral cavernous malformationfamilial cerebral cavernous malformationfocal neurological deficitintracerebral heamorrhageregistry

Identifiers

PMID41561324
PMCPMC12812676

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Registered trials

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.