StrokeÁRTEMIS-BrasilNCT07186517
Genetic Variants in Stroke
An observational study of Stroke and Genetic Association Studies, run by Hospital Moinhos de Vento at 11 sites in Brazil.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Stroke, Genetic Association Studies
- How many people
- 1,000 participants
- Where
- 11 sitesBrazil
- Study dates
- 1 Oct 2025to 31 Dec 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: 500 ischemic stroke patients and 500 controls with no family or personal history of stroke.
Who may be able to join
- 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.
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- 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.
Who cannot join
- 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.
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- 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.
Trial locations and contacts
11 sites in 1 country. Contact the study team or a site near you to ask about taking part.
11 sites in 1 country
Brazil11 sites
Hospital Ophir Loyola
Belém
Antonio de Matos
Hospital Metropolitano Dr. Célio de Castro
Belo Horizonte
Fidel Meira
Hospital Geral de Roraima
Boa Vista
Livia Martins
Hospital Universitário Maria Aparecida Pedrossian
Campo Grande
Gabriel Braga
Hospital Geral de Fortaleza
Fortaleza
Fabrício Oliveira Lima, PhD
Clínica Neurológica
Joinville
Carla Moro, PhD
Hospital Geral de Palmas
Palmas
Priscila Leite
Hospital de Clínicas de Porto Alegre
Porto Alegre, Rio Grande do Sul
Sheila C Martins, PhD
Hospital da Restauração Governador Paulo Guerra
Recife
Ana do Nascimento, PhD
Hospital Universitário Edgar Santos
Salvador
Jamary Oliveira-Filho, PhD
Hospital São Paulo
São Paulo
Gisele Sampaio, PhD
About this study
Official title: 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).
Read the detailed description
Study Overview: ÁRTEMIS-Brazil is a multicenter, case-control study that will recruit 1,000 participants (500 stroke patients and 500 controls) across 10 hospitals in Brazil. All participants will be extensively phenotyped, including demographic, clinical, lifestyle, neuroimaging, and laboratory data, in order to create a comprehensive dataset that links genomic information with health outcomes. Peripheral blood samples will be collected and processed under strict biobanking standards. DNA will undergo whole genome sequencing (WGS), enabling high-resolution investigation of genetic variation in an admixed population.
- Genomic and Bioinformatics Methodology: The analytical workflow has been designed to ensure high-quality, reproducible results and includes the following components: Pre-processing Removal of adapters, low-quality bases, and contaminant sequences. Filtering of reads based on Phred quality scores to retain only high-confidence sequences.
Alignment and Assembly Mapping of cleaned reads to the human reference genome (GRCh38). Evaluation of coverage, depth, and mapping accuracy. Quality metrics will be benchmarked against international standards.
Variant Analysis Identification and annotation of genetic variants, including single nucleotide polymorphisms (SNPs) and insertions/deletions (indels).
Annotation pipelines (e.g., GATK, ANNOVAR, VEP) will classify variants by predicted functional effect, population frequency, and pathogenicity.
Integration with reference databases such as gnomAD, ClinVar, PharmGKB, and dbSNP to contextualize findings.
Ancestry Analysis Estimation of genetic ancestry proportions using population-specific markers. Adjustment for population stratification in association analyses. Exploration of ancestry contributions to stroke susceptibility and clinical outcomes in Brazil's admixed population.
Pharmacogenetic Analysis Evaluation of variants in genes related to drug metabolism, efficacy, and toxicity (e.g., CYP450 family, platelet receptor pathways, anticoagulant metabolism).
Analysis of implications for treatment of acute ischemic stroke and secondary prevention, with emphasis on tailoring therapy to genetic profiles.
- Scientific and Clinical Impact: By combining genomic data with detailed phenotypic information, ARTEMIS-Brazil is uniquely positioned to: Identify novel genetic variants associated with stroke in an underrepresented population; Validate known variants in the context of Brazilian admixture; Characterize the contribution of ancestry to stroke risk and outcomes; Generate pharmacogenetic evidence to support personalized stroke care.
The project will advance global understanding of stroke genetics and contribute to the implementation of precision medicine strategies within the Brazilian Unified Health System (SUS). By ensuring representation of admixed populations in genomic research, ÁRTEMIS-Brazil will fill a major gap in current knowledge and create a foundation for more equitable healthcare.
- Conditions
- Stroke, Genetic Association Studies
- Medical subject headings
- Stroke
What is being measured
The primary outcome is the main question the study is designed to answer.
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 (%).
Measured: 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 (%).
Measured: 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 (%).
Measured: 60 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Sep 2025
- Study start1 Oct 2025 (estimated)
- Primary completion1 Dec 2030 (estimated)
- Study completion31 Dec 2030 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for StrokeStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 1,000 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Hospital Moinhos de Vento
- Sponsor type
- University, hospital or other
- Collaborators
- Ministry of Health, Brazil
- Responsible party
- Sponsor
- Investigators
- Ana C de Souza, PhD, Principal investigator, Hospital Moinhos de Vento
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07186517
- Sponsor's protocol ID
- 86795025.0.1001.5330
- Acronym
- ÁRTEMIS-Brasil
- Status last verified
- Sep 2025
- First submitted
- 9 Sep 2025
- Last updated
- 22 Sep 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 22 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Assessment of Key Genetic vaRianTs and thEir iMpacts In Stroke
- ClinicalTrials.gov ID
- NCT07186517
- Acronym / sponsor ID
- ÁRTEMIS-Brasil / 86795025.0.1001.5330
- Conditions
- Stroke, Genetic Association Studies
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 1,000 participants (estimated)
- Lead sponsor
- Hospital Moinhos de VentoUniversity, hospital or other
- Collaborators
- Ministry of Health, Brazil
- Study start
- 1 Oct 2025 (estimated)
- Primary completion
- 1 Dec 2030 (estimated)
- Study completion
- 31 Dec 2030 (estimated)
- First posted
- 22 Sep 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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).
Detailed description
Study Overview: ÁRTEMIS-Brazil is a multicenter, case-control study that will recruit 1,000 participants (500 stroke patients and 500 controls) across 10 hospitals in Brazil. All participants will be extensively phenotyped, including demographic, clinical, lifestyle, neuroimaging, and laboratory data, in order to create a comprehensive dataset that links genomic information with health outcomes. Peripheral blood samples will be collected and processed under strict biobanking standards. DNA will undergo whole genome sequencing (WGS), enabling high-resolution investigation of genetic variation in an admixed population.
- Genomic and Bioinformatics Methodology: The analytical workflow has been designed to ensure high-quality, reproducible results and includes the following components: Pre-processing Removal of adapters, low-quality bases, and contaminant sequences. Filtering of reads based on Phred quality scores to retain only high-confidence sequences.
Alignment and Assembly Mapping of cleaned reads to the human reference genome (GRCh38). Evaluation of coverage, depth, and mapping accuracy. Quality metrics will be benchmarked against international standards.
Variant Analysis Identification and annotation of genetic variants, including single nucleotide polymorphisms (SNPs) and insertions/deletions (indels).
Annotation pipelines (e.g., GATK, ANNOVAR, VEP) will classify variants by predicted functional effect, population frequency, and pathogenicity.
Integration with reference databases such as gnomAD, ClinVar, PharmGKB, and dbSNP to contextualize findings.
Ancestry Analysis Estimation of genetic ancestry proportions using population-specific markers. Adjustment for population stratification in association analyses. Exploration of ancestry contributions to stroke susceptibility and clinical outcomes in Brazil's admixed population.
Pharmacogenetic Analysis Evaluation of variants in genes related to drug metabolism, efficacy, and toxicity (e.g., CYP450 family, platelet receptor pathways, anticoagulant metabolism).
Analysis of implications for treatment of acute ischemic stroke and secondary prevention, with emphasis on tailoring therapy to genetic profiles.
- Scientific and Clinical Impact: By combining genomic data with detailed phenotypic information, ARTEMIS-Brazil is uniquely positioned to: Identify novel genetic variants associated with stroke in an underrepresented population; Validate known variants in the context of Brazilian admixture; Characterize the contribution of ancestry to stroke risk and outcomes; Generate pharmacogenetic evidence to support personalized stroke care.
The project will advance global understanding of stroke genetics and contribute to the implementation of precision medicine strategies within the Brazilian Unified Health System (SUS). By ensuring representation of admixed populations in genomic research, ÁRTEMIS-Brazil will fill a major gap in current knowledge and create a foundation for more equitable healthcare.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- 500 ischemic stroke patients and 500 controls with no family or personal history of stroke.
Key inclusion criteria (11 listed)
- 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;
Key exclusion criteria (14 listed)
- 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);
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Prevalence of stroke-related genetic polymorphisms measured by whole genome sequencing (WGS)
Time frame: 60 months
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 (%).
Genetic ancestry composition assessed by whole genome sequencing (WGS)
Time frame: 60 months
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 (%).
Pharmacogenetic variants associated with drug metabolism identified by whole genome sequencing (WGS)
Time frame: 60 months
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 (%).
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Sep 2025.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Ana C de Souza, PhD principal investigator
Hospital Moinhos de Vento
11 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Stroke and Genetic Association Studies, run by Hospital Moinhos de Vento at 11 sites in Brazil.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 14 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: opening soon, as of the sponsor's last update on 22 Sep 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 11 sites in Brazil. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Ana C de Souza, PhD (+55 51 33143434, neuroana87@gmail.com), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Prevalence of stroke-related genetic polymorphisms measured by whole genome sequencing (WGS) (time frame: 60 months). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Sep 2025; AzTrials last refreshed its copy on 2 Nov 2026.