Deciphering the Genetic Architecture of Autoimmune Diseases
ConditionAutoimmune Diseases
Trial statusRecruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age18-115
SponsorNational Human Genome Research Institute (NHGRI)
About this trial
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.
Eligibility criteria
This trial does not accept healthy volunteersQualifiers
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
Disqualifiers
None
Trial 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.
Trial design
Design model
Cohort
Time perspective
Prospective
Treatments tested in this trial
Not listed
Trial groups
300 Participants
are grouped into 1 trial groupGroup A: Affected
Trial outcomes
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.
Time frame
OngoingSponsors and contacts
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Source ClinicalTrials.gov