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Observational Study of Autoimmune Disease Genetics in Peru

This study aims to understand how genetic changes contribute to autoimmune diseases like lupus, Sjogren's disease, and rheumatoid arthritis, especially in people native to North and South America. Researchers know that these diseases can behave differently in people with non-European backgrounds, and they want to learn more about the specific genetic factors involved. The study will focus on individuals in Peru to investigate these genetic differences. You may be able to join if you are 18 years or older and have been diagnosed with an autoimmune disease such as systemic lupus erythematosus (SLE), Sjogren's disease, scleroderma, rheumatoid arthritis, seronegative spondyloarthropathies, or systemic vasculitis. The main goal is to identify genetic changes through whole-genome sequencing to better understand these conditions.

Study design
This is an observational study, meaning no specific interventions are being tested. It plans to enroll 300 participants aged 18 to 115 years, of all genders.
What's involved
The primary activity for participants is whole-genome sequencing, which is measured at an ongoing time point.
Compensation
Not stated in the trial record.
Follow-up
Not specified.

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NCT06948110

Deciphering the Genetic Architecture of Autoimmune Diseases

Recruiting
Not specifiedAges 18+Observational
National Human Genome Research Institute (NHGRI)
~300 participants
Updated 2026-08-28 on ClinicalTrials.gov

At a glance

Recruiting sites
1 of 2 listed sites are recruiting right now
RecruitingSuspended, closed, or not yet open
What they're measuring
whole-genome sequencing
Measured over Ongoing

Conditions

Autoimmune Diseases

Explore related trials

Autoimmune DiseaseRheumatoid ArthritisSclerodermaSeronegative SpondyloarthropathiesSjogren SyndromeSystemic Lupus ErythematosusSystemic vasculitis

Where it's being run

2 sites across 2 states
Maryland1
Peru1

Study leadership

  • Cristina M Lanata, M.D. · PRINCIPAL_INVESTIGATOR · National Human Genome Research Institute (NHGRI)

Who to contact

Cristina M Lanata, M.D.
[email protected]
(301) 451-2302
Email the study team

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Do you actually qualify for this trial?

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Eligibility criteria

Inclusion

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
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

People diagnosed with a chronic viral disease: HIV, hepatitis C or HTLV-1.

What this trial measures

  • whole-genome sequencingOngoing

    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.