Genetic Variants in Stroke

NCT07186517 | Not Yet Recruiting

• 1 other identifier: 86795025.0.1001.5330
• Study Type: observational
• Target: 1,000
• Locations: 1 country
• Sites: 11

Brief Summary

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).

Conditions

Stroke; Genetic Association Studies

Outcome Measures

Primary Outcomes (3)

• 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 (%).

  60 months

• 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 (%).

  60 months

• 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 (%).

  60 months

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

500 ischemic stroke patients and 500 controls with no family or personal history of stroke.

You may qualify if:

• 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);
• 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.

You may not qualify if:

• Cases
• 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);
• 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;
• Serious comorbidities that may impact participation or confound the results;
• Clinical conditions that reduce life expectancy to less than one year;
• Inability to provide consent due to cognitive impairment or other factors;
• Inability to undergo magnetic resonance imaging (due to metal artifacts, incompatible implants, claustrophobia);
• 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.

Sponsors & Collaborators

• Hospital Moinhos de Vento: lead
• Ministry of Health, Brazil: collaborator

Study Sites (11)

Hospital de Clínicas de Porto Alegre

Porto Alegre, Rio Grande do Sul, Brazil

Location

Hospital Ophir Loyola

Belém, Brazil

Location

Hospital Metropolitano Dr. Célio de Castro

Belo Horizonte, Brazil

Location

Hospital Geral de Roraima

Boa Vista, Brazil

Location

Hospital Universitário Maria Aparecida Pedrossian

Campo Grande, Brazil

Location

Hospital Geral de Fortaleza

Fortaleza, Brazil

Location

Clínica Neurológica

Joinville, Brazil

Location

Hospital Geral de Palmas

Palmas, Brazil

Location

Hospital da Restauração Governador Paulo Guerra

Recife, Brazil

Location

Hospital Universitário Edgar Santos

Salvador, Brazil

Location

Hospital São Paulo

São Paulo, Brazil

Location

Biospecimen

Retention: SAMPLES WITH DNA

Blood samples.

MeSH Terms

Conditions

Stroke

Condition Hierarchy (Ancestors)

Cerebrovascular Disorders; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Vascular Diseases; Cardiovascular Diseases

Study Officials

• Ana C de Souza, PhD

  Hospital Moinhos de Vento

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Ana C de Souza, PhD

CONTACT

+55 51 33143434; neuroana87@gmail.com

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 9, 2025
• First Posted: September 22, 2025
• Study Start: October 1, 2025
• Primary Completion (Estimated): December 1, 2030
• Study Completion (Estimated): December 31, 2030
• Last Updated: September 22, 2025

Record last verified: 2025-09

Locations

BR (11)