Deciphering the Genetic Architecture of Autoimmune Diseases

NCT06948110 | Recruiting

• 2 other identifiers: 10002412002412-HG
• Study Type: observational
• Target: 300
• Locations: 2 countries
• Sites: 2

Brief Summary

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.

Conditions

Autoimmune Diseases

Keywords

Systemic Lupus Erythematosus

Outcome Measures

Primary Outcomes (1)

• 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.

  Ongoing

Study Arms (1)

Affected

Person with an autoimmune disease

Eligibility Criteria

• Age: 18 Years - 115 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

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.

You may qualify if:

• 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

You may not qualify if:

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

Sponsors & Collaborators

• National Human Genome Research Institute (NHGRI): lead

Study Sites (2)

National Human Genome Research Institute (NHGRI)

Bethesda, Maryland, 20892, United States

COMPLETED

Amazon Rainforest

Lima, Peru

RECRUITING

MeSH Terms

Conditions

Autoimmune Diseases; Lupus Erythematosus, Systemic

Condition Hierarchy (Ancestors)

Immune System Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases

Study Officials

• Cristina M Lanata, M.D.

  National Human Genome Research Institute (NHGRI)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Cristina M Lanata, M.D.

CONTACT

(301) 451-2302; cristina.lanata@nih.gov

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: NIH
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: April 25, 2025
• First Posted: April 29, 2025
• Study Start (Estimated): June 17, 2026
• Primary Completion (Estimated): April 22, 2030
• Study Completion (Estimated): April 22, 2030
• Last Updated: June 12, 2026

Record last verified: 2026-05-26

Data Sharing

• IPD Sharing: Will not share

Locations

PE (1); US (1)