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

Description

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

Study Overview

Study Details

Study overview

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.

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

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

Condition
Still's Disease, Adult-Onset
Intervention / Treatment

-

Contacts and Locations

Bethesda

National Institutes of Health Clinical Center, Bethesda, Maryland, United States, 20892

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • 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.
  • 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.
  • 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

Ages Eligible for Study

1 Day to 100 Years

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

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

Michael J Ombrello, M.D., PRINCIPAL_INVESTIGATOR, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)

Study Record Dates

2050-01-01