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 biorepository 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.

Vascular Remodeling in Moyamoya Angiopathy: From Peripheral Blood Mononuclear Cells to Endothelial Cells

“…Among the original cohort of 132 patients of GEN-O-MA study [ 27 ], 47 subjects in whom it was possible to collect whole blood samples were included in the present study ( Supplementary Table S1 ). The full study methodology has been already reported elsewhere [ 27 ]. The selected subjects displayed a mean age of 38.85 ± 17.72 years, with a prevalence of female patients (78.72%).…”

“…This was an observational study conducted on MA patients, diagnosed following the literature criteria [ 80 ], belonging to the GEN-O-MA study. The full methodology of the study is reported elsewhere [ 27 ]. From the original population of 132 patients consecutively enrolled at the Neurology IX Unit of the Fondazione IRCCS Istituto Neurologico “C.…”

“…For all patients, demographic and clinical features were collected applying a standardized form [ 27 ].…”

Characteristics of Moyamoya Disease in the Older Population: Is It Possible to Define a Typical Presentation and Optimal Therapeutical Management?

“…In Japan, the estimated prevalence and incidence rates are 3.16 and 0.35 per 100,000 persons, with a female predominance. In Europe, the prevalence is probably 10 times lower than in Asia [ 6 , 7 , 8 ], whereas it is increasingly diagnosed in ischemic or hemorrhagic stroke, or headache patients undergoing neuroradiological examinations.…”

A rare triad of morning glory disc anomaly, moyamoya vasculopathy, and transsphenoidal cephalocele: pathophysiological considerations and surgical management

“…In particular, subjects with MGDA may present an increased prevalence of intracranial fetal variants, arterial agenesis, or moyamoya disease [2,4]. Moyamoya vasculopathy is characterized by steno-occlusive changes at the terminal portion of the internal carotid arteries with formation of an abnormal vascular network at the base of the brain [5][6][7][8][9]. Recently, Brodsky et al suggested that there may be a common denominator between MGDA and moyamoya vasculopathy, since the absence of central retinal vasculature in MGDA gives rise to compensatory collateralization of chorioretinal anastomoses acting as a "moyamoya" bypass system within the distal optic nerve [10].…”