Studies Genetic Variants and Their Effects in Stroke Patients in Brazil

Trial details

Who runs it

Hospital Moinhos de Vento

Trial code

NCT07186517

Record updated

22 September 2025

Original description

Stroke is the leading cause of death and disability in Brazil and worldwide, with a significant socioeconomic impact. Despite advances in prevention and treatment, the role of genetic variants in ischemic stroke remains underexplored, especially in genetically diverse populations like Brazil's. International studies such as MEGASTROKE and GIGASTROKE have identified risk loci for stroke, but with low representation of the Latin American population. This study aims to fill that gap by evaluating the prevalence and clinical impact of genetic polymorphisms previously described in Brazilians, thereby laying the groundwork for precision medicine within Brazil's Unified Health System (SUS).Read full original descriptionShow less

Assessment of Key Genetic vaRianTs and thEir iMpacts In Stroke

Stroke is the leading cause of death and disability in Brazil and worldwide, with a significant socioeconomic impact. Despite advances in prevention and treatment, the role of genetic variants in ischemic stroke remains underexplored, especially in genetically diverse populations like Brazil's. International studies such as MEGASTROKE and GIGASTROKE have identified risk loci for stroke, but with low representation of the Latin American population. This study aims to fill that gap by evaluating the prevalence and clinical impact of genetic polymorphisms previously described in Brazilians, thereby laying the groundwork for precision medicine within Brazil's Unified Health System (SUS).

Inclusion: Cases; Age ≥18 years; Confirmed diagnosis by neuroimaging (CT or MRI) of a first episode of ischemic stroke in the last 12 months; TOAST classification of stroke available: cardioembolic, lacunar, atherosclerotic, or undetermined due to the presence of multiple sources (cardioembolic/atherosclerotic); Modified Rankin Scale (mRS) ≤4 at the time of inclusion; Ability and willingness to provide consent and participate in follow-up assessments; Controls; Age ≥18 years; Reside in the same household or, if not, in the same neighborhood as the case group participant; Not be a blood relative of the case group participant; Ability and willingness to provide consent and participate in follow-up assessments.

Exclusion: Inability to undergo magnetic resonance imaging (due to metal artifacts, MRI-incompatible implants, claustrophobia); Inability to undergo magnetic resonance imaging (due to metal artifacts, incompatible implants, claustrophobia); Ischemic stroke with a distinct etiology based on TOAST criteria (e.g., infectious, autoimmune, endocarditis, reversible cerebral vasoconstriction syndrome, drug-related causes); Diagnosis of monogenic or mitochondrial disorders, such as CADASIL, Fabry disease, homocystinuria, MELAS, sickle cell disease, among others; Clinical conditions that reduce life expectancy to less than one year (e.g., neoplasia); Other conditions that, at the investigator's discretion, prevent participation or compromise follow-up; Controls; Personal history of stroke, transient ischemic attack (TIA), coronary, or peripheral artery disease; Clinical conditions that reduce life expectancy to less than one year; Inability to provide consent due to cognitive impairment or other factors; Diagnosis of monogenic or mitochondrial disorders, such as CADASIL, Fabry disease, homocystinuria, MELAS, or sickle cell disease; Other conditions that, at the investigator's discretion, prevent participation or compromise follow-up; Cases; Serious comorbidities that may impact participation or confound the results.

ClinicalTrials.gov NCT07186517