Natural History, Genetics, and Pathophysiology of Systemic Juvenile Idiopathic Arthritis, Adult-Onset Still's Disease, and Related Conditions

NCT03510442 | Recruiting

• 2 other identifiers: 18008118-AR-0081
• Study Type: observational
• Target: 2,000
• Locations: 1 country
• Sites: 1

Brief Summary

Background: Inflammatory conditions can cause symptoms like fevers, arthritis, and rash. Systemic juvenile idiopathic arthritis (sJIA) is one of these conditions. So is adult-onset Still s disease (AOSD). Their causes are unknown. Researchers want to learn more about these conditions. This includes genetic changes and environmental factors. Objective: To study sJIA and AOSD in children and adults over time. Eligibility: People with known or suspected sJIA, AOSD, or similar inflammatory condition Design: Participants will be screened with a phone call. Participants will have 1 visit. It may be outpatient or they may be admitted to the clinic. The visit may last up to 5 days. Participants will have:

• Medical history
• Physical exam
• Musculoskeletal exam
• Questions about overall health and quality of life, disease activity, functional status, and cognitive ability. Participants may also have:
• Pictures taken of their skin, joints, or spine
• Blood, urine, and stool tests
• Scans or X-rays of joints with arthritis
• Chest X-ray
• Heart tests
• Skin biopsy. The skin will be numbed. The top layers of a small area will be scraped off. Participants who have a joint aspiration may provide a fluid sample. The joint will be prepared, then fluid is removed by needle. A corticosteroid may be injected. Participants who have a bone marrow biopsy may provide sample cells. Participants may be seen by NIH specialists. Members of the participant s family and healthy volunteers may give blood or saliva samples for genetic testing. Participants may repeat some study tests every 6 months.

Conditions

Still's Disease, Adult-Onset; Systemic Inflammation; Arthritis; Autoinflammatory Syndrome

Keywords

Inflammation; Fever; Arthritis; Sequencing; Natural History

Outcome Measures

Primary Outcomes (1)

• Genetic sequencing of patients

  sequencing aims to identify variants to help stratify sJIA, Still's and inflammatory disease patients

  Ongoing

Study Arms (5)

adult-onset Still's disease (AOSD)

Composed of patients with known or suspected AOSD as defined by Yamaguchi criteria.

family members

Composed of family members of patients with systemic juvenile idiopathic arthritis, adult-onset Still's disease and related conditions.

healthy volunteers

Composed of healthy adults and children (above the age of 6 years) who volunteer to participate in this protocol.

related inflammatory conditions

Composed of patients with suspected inflammatory disease as indicated by the presence of episodic fever and/ or arthritis.

systemic juvenile idiopathic arthritis (sJIA)

Composed of patients with known or suspected sJIA as defined by the international league of Associations for Rheumatology (ILAR) criteria

Eligibility Criteria

• Age: 1 Day - 100 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

Patients with systemic juvenile idiopathic arthritis (sJIA), adult-onset Still's disease (AOSD) and related inflammatory conditions.

You may not qualify if:

• inflammatory phenotype, will not be followed.
• Patients with signs and symptoms of sJIA will be classified as outlined in #1, #2 and #3 below:
• Patients less than 16 years of age will be considered to have sJIA if they meet the ILAR criteria for sJIA.
• Patients 16 years of age and older will be considered to have sJIA if they have previously met ILAR criteria for sJIA.
• Family members of individuals included under items 1 and 2.
• Controls for clinical, cellular, molecular, and biochemical assays, and genetic evaluation will be enrolled. Individuals who undergo phlebotomy specifically to provide a control specimen will include both pediatric and adult patients and will not be pregnant.
• Patients with signs and symptoms of AOSD will be classified as outlined in #1, #2 and #3 below:
• Patients 16 years of age and older will be considered to have AOSD if they meet the Yamaguchi criteria for AOSD (including a negative ANA and RF).
• Patients may be considered to have a diagnosis of AOSD if they met criteria for diagnosis in the past but do not still have present evidence of disease.
• Family members of individuals included under items 1 and 2.
• Controls for clinical, cellular, molecular, and biochemical assays, and genetic evaluation will be enrolled. Individuals who undergo phlebotomy specifically to provide a control specimen will include both pediatric and adult patients and will not be pregnant.
• Patients with suspected sJIA, AOSD or a related inflammatory condition, as indicated by the presence of episodic fever and/or arthritis, may also be included.
• In adults, inability to provide informed consent and unavailability of a legally authorized representative to provide surrogate consent. In the case of minors, unavailability of a parent or guardian.
• Presence of any medical condition that would, in the opinion of the investigators, confuse the interpretation of the study.
• Unavailability, or inability to adhere with the schedule for follow-up visits.

Sponsors & Collaborators

• National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS): lead

Study Sites (1)

National Institutes of Health Clinical Center

Bethesda, Maryland, 20892, United States

RECRUITING

Related Links

• NIH Clinical Center Detailed Web Page

MeSH Terms

Conditions

Still's Disease, Adult-Onset; Arthritis; Inflammation; Fever

Condition Hierarchy (Ancestors)

Arthritis, Rheumatoid; Joint Diseases; Musculoskeletal Diseases; Rheumatic Diseases; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Autoimmune Diseases; Immune System Diseases; Pathologic Processes; Pathological Conditions, Signs and Symptoms; Body Temperature Changes; Signs and Symptoms

Study Officials

• Michael J Ombrello, M.D.

  National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Michelle R Millwood

CONTACT

(301) 827-1849; millwoodmr@mail.nih.gov

Michael J Ombrello, M.D.

CONTACT

(301) 435-4037; ombrellomj@mail.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 26, 2018
• First Posted: April 27, 2018
• Study Start: May 21, 2018
• Primary Completion (Estimated): January 1, 2050
• Study Completion (Estimated): January 1, 2050
• Last Updated: April 13, 2026

Record last verified: 2026-04-09

Locations

US (1)