Deciphering the Genetic Architecture of Autoimmune Diseases
Autoimmune Diseases
What this study involves
The registry says this study is recruiting. Individual locations may have different availability.
- Study type
- Observational
- Phase
- Not applicable / not listed
- Age range
- 18 years - 115 years
- Sex eligible
- All sexes
- Healthy volunteers
- Not accepted
- Participants
- 300 Estimated
These are starting points, not an eligibility decision. The research team must review the full requirements.
About the research
Background:
Autoimmune diseases can be caused by genes people inherit from their parents. The gene changes that cause these diseases have been well studied in people with European and Asian ancestors. But some diseases behave differently in people who are native to North and South America. Researchers want to know more about the gene changes and other factors that may cause autoimmune diseases among these people. This project will be based in Peru.
Objective:
To study how gene changes can lead to autoimmune diseases in people native to Peru.
Eligibility:
People aged 18 years and older with an autoimmune disease. These may include systemic lupus erythematosus; Sjogren disease; scleroderma; rheumatoid arthritis; seronegative spondylo-arthropathies; and systemic vasculitis. Family members and healthy volunteers are also needed.
Design:
Participants will have 2 clinic visits; these will be 2 weeks apart. The clinics will be in Lima, Iquitos, and other sites in Peru.
Visit 1: Participants will have a physical exam. They will answer questions about their health risks and habits. They will provide blood and urine samples.
Visit 2: Participants will provide a second blood sample and a stool sample. They will talk about the results of their first clinical exam with researchers.
The cost of travel to and from the clinics will be provided. Participants will get $30 per visit and a snack.
Read the full description
SUMMARY:
The goal of this proposal is to investigate the genomic origins of heterogeneity in both risk and specific phenotype of autoimmune diseases, with a particular emphasis on understanding and addressing the health disparities of these diseases. Autoimmune diseases, especially Systemic Lupus Erythematosus (SLE), manifest at an earlier age and have worse clinical outcomes in individuals of non-European ancestry. Likewise, immunological genetic variants show a differential evolution based on geographical pathogenic pressure; almost 13 percent of loci for SLE, not including human leukocyte antigens (HLA), show signs of natural selection. Therefore, investigating the genomics of autoimmunity globally and in non-European populations is crucial to understanding these observations.
The prevalence of autoimmune diseases in Peru is difficult to estimate, since diagnoses require serologies that are not accessible, but it is estimated that there is a large proportion of undiagnosed or untreated cases in the country. Some studies conducted in Latin America and the United States report that the mestizo population presents SLE at an earlier age, with more systemic involvement than European populations. It is necessary to recognize that there is a significant gap in genomic studies conducted in the field of autoimmune diseases, revealing a serious underrepresentation in the indigenous populations of North and South America. In response to this critical need, collaborations have been established between physicians in different areas of Peru and Latin America to study the genomic architecture of autoimmunity in indigenous people in South America, carrying out cutting-edge genomic studies in this under-explored and high-risk population and evaluating population-specific genetic variants that may contribute to the identification of causal genes. including coding or structural changes. We propose to carry out state-of-the-art genomic studies in populations from different areas of Peru (Amazon, Andes, Coast) to describe the genomic architecture in this previously unstudied population.
General Objective:
The general objective of this project is to use genomic strategies to evaluate the molecular basis of human autoimmune diseases, representative of Peruvian populations. Diversification in genomic studies is necessary to reach personalized medicine and collaboration with community leaders and local researchers will ensure community participation and individual engagement, as well as training and education activities.
Specific Objectives:
Specific objective 1: To identify genetic markers associated with genetic risk of autoimmune diseases in the Indigenous population of Peru.
Specific objective 2: To evaluate the integrative multiomics (genomics, epigenomics and exposome) of the environmental context associated with autoimmunity in Peru.
Specific Objective 3: To characterize the microbiome in patients with autoimmunity in Peru.
Primary Endpoint:
Successful recruitment and whole-genome sequencing of at least 20 multiplex families with high familial autoimmunity burden, enabling identification and preliminary annotation of rare or novel genetic variants potentially linked to autoimmune disease susceptibility.
Who may be able to participate?
The list below is the sponsor’s full registry wording. It can include conditions, prior treatment, test results and other requirements. A match in search does not mean you qualify.
- INCLUSION CRITERIA:
Any person who meets the criteria for inclusion in the study will be considered and must have the patient's signed informed consent for participation.
Autoimmune Disease Diagnosis:
Cases:
- Patients diagnosed with SLE, Sjogren's disease, scleroderma, rheumatoid arthritis, seronegative spondyloarthropathies, and systemic vasculitis, as defined by the American College of Rheumatology classification criteria.
- Over 18 years old
Controls:
- Family members of identified cases, and unrelated individuals. The controls would be from the same community as the patients and families studied, and of the same age and gender. Screening for autoimmune diseases and allergic diseases will be performed.
- Over 18 years old
EXCLUSION CRITERIA:
-People diagnosed with a chronic viral disease: HIV, hepatitis C or HTLV-1.
Study population
1\) patients with suspected monogenic disorders of germinal origin and/or early-onset systemic lupus erythematosus; 2) families with multiple individuals with systemic lupus erythematosus and a history of consanguinity; 3) belonging to an isolated population; and 4) families with high autoimmunity penetrance.
Understand screeningTreatment, groups and participation
The registry may describe treatments and study duration without a complete visit calendar. Ask the study team for the exact schedule, procedures, risks, costs and alternatives. Keep your usual care plan unless your treating clinician tells you otherwise.
- Assignment
- Not reported
- Masking
- Not reported
Affected
Person with an autoimmune disease
What researchers are measuring
Outcome measures describe what is being studied. They are not proof that a treatment works.
Primary measures
whole-genome sequencing
Time frame: Ongoing
Successful recruitment and whole-genome sequencing of at least 20 multiplex families with high familial autoimmunity burden, enabling identification and preliminary annotation of rare or novel genetic variants potentially linked to autoimmune disease susceptibility.
Review the complete result tables and limitations in the official record.
Open official results ↗Research locations (2)
The overall study status and a local site’s status can differ. Confirm that location’s availability before traveling.
2 locations
National Human Genome Research Institute (NHGRI)Bethesda, Maryland, United StatesCompleted
Amazon RainforestLima, PeruRecruiting
Study team and timeline
- Lead sponsor
- National Human Genome Research Institute (NHGRI)
- Study start
- Nov 15, 2026 Estimated
- Primary completion
- Apr 22, 2030 Estimated
- Study completion
- Apr 22, 2030 Estimated
- First posted
- Apr 29, 2025 Actual
- Last updated
- Nov 10, 2026 Actual
Official study contacts
Official study title
Deciphering the Genetic Architecture of Autoimmune Diseases
Ask Wellness Clinical Research
Your message goes to WCR, including when this study is run by another organization. WCR may offer general guidance but may not operate this trial, have access to its team or be able to enroll you.
Source: ClinicalTrials.gov API v2. Information is submitted by sponsors and investigators. NLM does not approve the safety or science of all listed studies. Registry disclaimer.
Retrieved: Nov 12, 2026 · Last registry update: Nov 10, 2026