Genetic Variants in Stroke
Trial statusNot yet recruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18+
SponsorHospital Moinhos de Vento
About this trial
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).
Eligibility criteria
This trial accepts healthy volunteersQualifiers
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;
Disqualifiers
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);
Inability to undergo magnetic resonance imaging (due to metal artifacts, MRI-incompatible implants, claustrophobia);
Trial population
500 ischemic stroke patients and 500 controls with no family or personal history of stroke.
Trial design
Design model
Case-control
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
No trial groups listed
Trial outcomes
Primary outcomes
1
Prevalence of stroke-related genetic polymorphisms measured by whole genome sequencing (WGS)
Frequency and distribution of single nucleotide polymorphisms (SNPs) and small insertions/deletions (indels) previously associated with stroke, identified from whole genome sequencing data. Frequencies will be compared with international genomic databases to evaluate similarities and differences in an admixed Brazilian population. Unit of Measure: Percentage of participants carrying the variant; allele frequency (%).
Time frame
60 months2
Genetic ancestry composition assessed by whole genome sequencing (WGS)
Proportion of ancestry components (e.g., European, African, Indigenous American) estimated from population-specific genetic markers using WGS. Comparison between stroke cases and controls will be performed to explore associations with stroke risk. Unit of Measure: Proportion of ancestry components (%).
Time frame
60 months3
Pharmacogenetic variants associated with drug metabolism identified by whole genome sequencing (WGS)
Prevalence of variants in pharmacogenes (e.g., CYP450 genes, platelet receptor genes, anticoagulant metabolism pathways) assessed through WGS. Results will be compared with reference databases and analyzed in stroke cases and controls. Unit of Measure: Percentage of participants carrying pharmacogenetically relevant variants; allele frequency (%).
Time frame
60 monthsSponsors and contacts
Click on the lead sponsor to view all of their trials.
Hospital Moinhos de Vento
Lead sponsor
Ministry of Health, Brazil
Collaborator
Source ClinicalTrials.gov
This trial is not recruiting at the moment. You can still explore other options: