Understanding the causes and effects of systemic juvenile idiopathic arthritis and adult-onset Still's disease

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

This study is trying to understand what causes systemic juvenile idiopathic arthritis and adult-onset Still's disease by looking at the health history and genetics of children and adults with these conditions.

Quick facts

• Study type: Observational
• Enrollment: 2000 (estimated)
• Ages: 1 Day to 100 Years
• Sex: All
• Sponsor: National Institutes of Health Clinical Center (CC) (nih)
• Locations: 1 site (Bethesda, Maryland)
• Trial ID: NCT03510442 on ClinicalTrials.gov

What this trial studies

This observational study aims to investigate the natural history, genetics, and pathophysiology of systemic juvenile idiopathic arthritis (sJIA) and adult-onset Still's disease (AOSD). Participants, including children and adults with known or suspected cases of these conditions, will undergo a comprehensive evaluation that includes medical history, physical exams, and various tests. The study seeks to identify genetic changes and environmental factors that contribute to these inflammatory diseases, which are often misdiagnosed or delayed in diagnosis due to their complex nature. By gathering detailed health information over time, researchers hope to improve understanding and management of these conditions.

Who should consider this trial

Good fit: Ideal candidates include individuals with known or suspected systemic juvenile idiopathic arthritis, adult-onset Still's disease, or related inflammatory conditions.

Not a fit: Patients without signs or symptoms of sJIA or AOSD, or those who do not meet the inclusion criteria, may not benefit from this study.

Why it matters

Potential benefit: If successful, this study could lead to better diagnostic methods and treatment strategies for patients with sJIA and AOSD.

How similar studies have performed: While the study's approach is novel in its comprehensive evaluation of these specific conditions, similar studies have shown promise in understanding other inflammatory diseases.

Eligibility criteria

* INCLUSION CRITERIA:

Subjects with known or suspected sJIA, AOSD or a similar inflammatory phenotype will provide informed consent and then be evaluated either in the outpatient or inpatient unit of the NIH Clinical Center. To be eligible for follow-up visits patients must meet the Inclusion Criteria, but not the Exclusion Criteria. Subjects determined to not have known or suspected sJIA or AOSD, or a related

inflammatory phenotype, will not be followed.

Patients with signs and symptoms of sJIA will be classified as outlined in #1, #2 and #3 below:

1. Patients less than 16 years of age will be considered to have sJIA if they meet the ILAR criteria for sJIA.
2. Patients 16 years of age and older will be considered to have sJIA if they have previously met ILAR criteria for sJIA.
3. Family members of individuals included under items 1 and 2.
4. 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:

1. 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).
2. 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.
3. Family members of individuals included under items 1 and 2.
4. 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.

EXCLUSION CRITERIA:

1. 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.
2. Presence of any medical condition that would, in the opinion of the investigators, confuse the interpretation of the study.
3. Unavailability, or inability to adhere with the schedule for follow-up visits.
4. Pregnancy

Where this trial is running

Bethesda, Maryland

• National Institutes of Health Clinical Center — Bethesda, Maryland, United States (RECRUITING)

Study contacts

• Principal investigator: Michael J Ombrello, M.D. — National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
• Study coordinator: Michelle R Millwood

Conditions: Still's Disease, Adult-Onset, Systemic Inflammation, Arthritis, Autoinflammatory Syndrome, Inflammation, Fever, Sequencing, Natural History