An observational study in Autoimmune Diseases, sponsored by National Human Genome Research Institute (NHGRI). Recruiting at 2 sites in 2 countries. Open to participants aged 18 Years to 115 Years. Per ClinicalTrials.gov, last updated 2026-11-10.
Sponsored by National Human Genome Research Institute (NHGRI) · Observational
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.
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.
802 studies on the registry are indexed under Autoimmune Diseases; 271 are open to participants now.
This study's planned enrollment of 300 is close to the median of 300 across 229 observational studies indexed under Autoimmune Diseases.
Browse Autoimmune Diseases studies →National Human Genome Research Institute (NHGRI) is the lead sponsor of 203 studies on the registry; 33 are open to participants now.
Counted across the registry records on this site, refreshed daily.
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.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Any person who meets the criteria for inclusion in the study will be considered and must have the patient's signed for participation.
Disease Diagnosis:
Cases:
Controls:
EXCLUSION CRITERIA:
-People diagnosed with a chronic viral disease: , or HTLV-1.
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
A condition in which the immune system attacks the body’s own tissues, such as rheumatoid arthritis, lupus, psoriasis, type 1 diabetes or inflammatory bowel disease.
Immunotherapy studies often leave out active autoimmune disease, and some name exceptions, such as thyroid disease on replacement hormone. Check the exceptions this study lists.
The human immunodeficiency virus, which weakens the immune system.
Many studies now accept people whose HIV is controlled on treatment, judged by the viral load and the CD4 count. Check the limits this study sets.
Hepatitis C is a virus that infects the liver. An HCV antibody test can stay positive after an infection has cleared (and is occasionally positive without one); an HCV RNA test shows whether the virus is there now.
After treatment, hepatitis C counts as cured when HCV RNA is still undetectable 12 weeks or more after the treatment ended. Studies often accept people cured this way.
Informed consent
Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.
You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Autoimmune disease
A condition in which the immune system attacks the body’s own tissues, such as rheumatoid arthritis, lupus, psoriasis, type 1 diabetes or inflammatory bowel disease.
Immunotherapy studies often leave out active autoimmune disease, and some name exceptions, such as thyroid disease on replacement hormone. Check the exceptions this study lists.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
HIV
The human immunodeficiency virus, which weakens the immune system.
Many studies now accept people whose HIV is controlled on treatment, judged by the viral load and the CD4 count. Check the limits this study sets.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Hepatitis C tests
Hepatitis C is a virus that infects the liver. An HCV antibody test can stay positive after an infection has cleared (and is occasionally positive without one); an HCV RNA test shows whether the virus is there now.
After treatment, hepatitis C counts as cured when HCV RNA is still undetectable 12 weeks or more after the treatment ended. Studies often accept people cured this way.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
Person with an autoimmune disease
whole-genome sequencing
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.
Time frame: Ongoing
Not enrolling at this site.
Plan to share: No
No publications or documents are linked to this record.
From the registry record's own update history. This site started tracking changes on Sep 25, 2026; for anything earlier, see the record history on ClinicalTrials.gov ↗
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