GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease—study protocol and preliminary results

on behalf of GEN-O-MA study group

Research output: Contribution to journalArticle

2 Citations (Scopus)

Abstract

Background: GENetics of mOyaMoyA (GEN-O-MA) project is a multicenter observational study implemented in Italy aimed at creating a network of centers involved in moyamoya angiopathy (MA) care and research and at collecting a large series and bio-repository of MA patients, finally aimed at describing the disease phenotype and clinical course as well as at identifying biological or cellular markers for disease progression. The present paper resumes the most important study methodological issues and preliminary results. Methods: Nineteen centers are participating to the study. Patients with both bilateral and unilateral radiologically defined MA are included in the study. For each patient, detailed demographic and clinical as well as neuroimaging data are being collected. When available, biological samples (blood, DNA, CSF, middle cerebral artery samples) are being also collected for biological and cellular studies. Results: Ninety-eight patients (age of onset mean ± SD 35.5 ± 19.6 years; 68.4% females) have been collected so far. 65.3% of patients presented ischemic (50%) and haemorrhagic (15.3%) stroke. A higher female predominance concomitantly with a similar age of onset and clinical features to what was reported in previous studies on Western patients has been confirmed. Conclusion: An accurate and detailed clinical and neuroimaging classification represents the best strategy to provide the characterization of the disease phenotype and clinical course. The collection of a large number of biological samples will permit the identification of biological markers and genetic factors associated with the disease susceptibility in Italy.

Original languageEnglish
JournalNeurological Sciences
DOIs
Publication statusAccepted/In press - Jan 1 2019

Fingerprint

Age of Onset
Neuroimaging
Italy
Phenotype
Disease Susceptibility
Middle Cerebral Artery
Multicenter Studies
Observational Studies
Disease Progression
Biomarkers
Stroke
Demography
DNA
Research
Genetic Background

Keywords

  • Endothelial progenitor cells
  • Genetics
  • Markers
  • Moyamoya disease
  • Network

ASJC Scopus subject areas

  • Dermatology
  • Clinical Neurology
  • Psychiatry and Mental health

Cite this

@article{643308121345472aba275236bcc915a1,
title = "GEN-O-MA project: an Italian network studying clinical course and pathogenic pathways of moyamoya disease—study protocol and preliminary results",
abstract = "Background: GENetics of mOyaMoyA (GEN-O-MA) project is a multicenter observational study implemented in Italy aimed at creating a network of centers involved in moyamoya angiopathy (MA) care and research and at collecting a large series and bio-repository of MA patients, finally aimed at describing the disease phenotype and clinical course as well as at identifying biological or cellular markers for disease progression. The present paper resumes the most important study methodological issues and preliminary results. Methods: Nineteen centers are participating to the study. Patients with both bilateral and unilateral radiologically defined MA are included in the study. For each patient, detailed demographic and clinical as well as neuroimaging data are being collected. When available, biological samples (blood, DNA, CSF, middle cerebral artery samples) are being also collected for biological and cellular studies. Results: Ninety-eight patients (age of onset mean ± SD 35.5 ± 19.6 years; 68.4{\%} females) have been collected so far. 65.3{\%} of patients presented ischemic (50{\%}) and haemorrhagic (15.3{\%}) stroke. A higher female predominance concomitantly with a similar age of onset and clinical features to what was reported in previous studies on Western patients has been confirmed. Conclusion: An accurate and detailed clinical and neuroimaging classification represents the best strategy to provide the characterization of the disease phenotype and clinical course. The collection of a large number of biological samples will permit the identification of biological markers and genetic factors associated with the disease susceptibility in Italy.",
keywords = "Endothelial progenitor cells, Genetics, Markers, Moyamoya disease, Network",
author = "{on behalf of GEN-O-MA study group} and Anna Bersano and Gloria Bedini and Sara Nava and Francesco Acerbi and Sebastiano, {Davide Rossi} and Simona Binelli and Silvana Franceschetti and Giuseppe Farag{\`o} and Marina Grisoli and Andrea Gioppo and Paolo Ferroli and Bruzzone, {Maria Grazia} and Daria Riva and Elisa Ciceri and Chiara Pantaleoni and Veronica Saletti and Silvia Esposito and Nardo Nardocci and Federica Zibordi and Luigi Caputi and Marzoli, {Stefania Bianchi} and Zedde, {Maria Luisa} and Marco Pavanello and Alessandro Raso and Valeria Capra and Leonardo Pantoni and Cristina Sarti and Alessandro Pezzini and Filomena Caria and {Dell’ Acqua}, {Maria Luisa} and Andrea Zini and Claudio Baracchini and Filippo Farina and Sandro Sanguigni and {De Lodovici}, {Maria Luisa} and Giorgio Bono and Fioravanti Capone and {Di Lazzaro}, Vincenzo and Silvia Lanfranconi and Massimiliano Toscano and {Di Piero}, Vittorio and Simona Sacco and Antonio Carolei and Danilo Toni and Maurizio Paciaroni and Valeria Caso and Patrizia Perrone and Calloni, {Maria Vittoria} and Emilio Ciusani and Parati, {Eugenio Agostino}",
year = "2019",
month = "1",
day = "1",
doi = "10.1007/s10072-018-3664-z",
language = "English",
journal = "Neurological Sciences",
issn = "1590-1874",
publisher = "Springer-Verlag Italia s.r.l.",

}

TY - JOUR

T1 - GEN-O-MA project

T2 - an Italian network studying clinical course and pathogenic pathways of moyamoya disease—study protocol and preliminary results

AU - on behalf of GEN-O-MA study group

AU - Bersano, Anna

AU - Bedini, Gloria

AU - Nava, Sara

AU - Acerbi, Francesco

AU - Sebastiano, Davide Rossi

AU - Binelli, Simona

AU - Franceschetti, Silvana

AU - Faragò, Giuseppe

AU - Grisoli, Marina

AU - Gioppo, Andrea

AU - Ferroli, Paolo

AU - Bruzzone, Maria Grazia

AU - Riva, Daria

AU - Ciceri, Elisa

AU - Pantaleoni, Chiara

AU - Saletti, Veronica

AU - Esposito, Silvia

AU - Nardocci, Nardo

AU - Zibordi, Federica

AU - Caputi, Luigi

AU - Marzoli, Stefania Bianchi

AU - Zedde, Maria Luisa

AU - Pavanello, Marco

AU - Raso, Alessandro

AU - Capra, Valeria

AU - Pantoni, Leonardo

AU - Sarti, Cristina

AU - Pezzini, Alessandro

AU - Caria, Filomena

AU - Dell’ Acqua, Maria Luisa

AU - Zini, Andrea

AU - Baracchini, Claudio

AU - Farina, Filippo

AU - Sanguigni, Sandro

AU - De Lodovici, Maria Luisa

AU - Bono, Giorgio

AU - Capone, Fioravanti

AU - Di Lazzaro, Vincenzo

AU - Lanfranconi, Silvia

AU - Toscano, Massimiliano

AU - Di Piero, Vittorio

AU - Sacco, Simona

AU - Carolei, Antonio

AU - Toni, Danilo

AU - Paciaroni, Maurizio

AU - Caso, Valeria

AU - Perrone, Patrizia

AU - Calloni, Maria Vittoria

AU - Ciusani, Emilio

AU - Parati, Eugenio Agostino

PY - 2019/1/1

Y1 - 2019/1/1

N2 - Background: GENetics of mOyaMoyA (GEN-O-MA) project is a multicenter observational study implemented in Italy aimed at creating a network of centers involved in moyamoya angiopathy (MA) care and research and at collecting a large series and bio-repository of MA patients, finally aimed at describing the disease phenotype and clinical course as well as at identifying biological or cellular markers for disease progression. The present paper resumes the most important study methodological issues and preliminary results. Methods: Nineteen centers are participating to the study. Patients with both bilateral and unilateral radiologically defined MA are included in the study. For each patient, detailed demographic and clinical as well as neuroimaging data are being collected. When available, biological samples (blood, DNA, CSF, middle cerebral artery samples) are being also collected for biological and cellular studies. Results: Ninety-eight patients (age of onset mean ± SD 35.5 ± 19.6 years; 68.4% females) have been collected so far. 65.3% of patients presented ischemic (50%) and haemorrhagic (15.3%) stroke. A higher female predominance concomitantly with a similar age of onset and clinical features to what was reported in previous studies on Western patients has been confirmed. Conclusion: An accurate and detailed clinical and neuroimaging classification represents the best strategy to provide the characterization of the disease phenotype and clinical course. The collection of a large number of biological samples will permit the identification of biological markers and genetic factors associated with the disease susceptibility in Italy.

AB - Background: GENetics of mOyaMoyA (GEN-O-MA) project is a multicenter observational study implemented in Italy aimed at creating a network of centers involved in moyamoya angiopathy (MA) care and research and at collecting a large series and bio-repository of MA patients, finally aimed at describing the disease phenotype and clinical course as well as at identifying biological or cellular markers for disease progression. The present paper resumes the most important study methodological issues and preliminary results. Methods: Nineteen centers are participating to the study. Patients with both bilateral and unilateral radiologically defined MA are included in the study. For each patient, detailed demographic and clinical as well as neuroimaging data are being collected. When available, biological samples (blood, DNA, CSF, middle cerebral artery samples) are being also collected for biological and cellular studies. Results: Ninety-eight patients (age of onset mean ± SD 35.5 ± 19.6 years; 68.4% females) have been collected so far. 65.3% of patients presented ischemic (50%) and haemorrhagic (15.3%) stroke. A higher female predominance concomitantly with a similar age of onset and clinical features to what was reported in previous studies on Western patients has been confirmed. Conclusion: An accurate and detailed clinical and neuroimaging classification represents the best strategy to provide the characterization of the disease phenotype and clinical course. The collection of a large number of biological samples will permit the identification of biological markers and genetic factors associated with the disease susceptibility in Italy.

KW - Endothelial progenitor cells

KW - Genetics

KW - Markers

KW - Moyamoya disease

KW - Network

UR - http://www.scopus.com/inward/record.url?scp=85059550243&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85059550243&partnerID=8YFLogxK

U2 - 10.1007/s10072-018-3664-z

DO - 10.1007/s10072-018-3664-z

M3 - Article

AN - SCOPUS:85059550243

JO - Neurological Sciences

JF - Neurological Sciences

SN - 1590-1874

ER -