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Protocol Details

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 currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

18-AR-0081

Sponsoring Institute

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

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 1 days
Max Age: 100 Years

Referral Letter Required

No

Population Exclusion(s)

Pregnant Women

Keywords

Inflammation;
Fever;
Arthritis;
Sequencing;
Natural History

Recruitment Keyword(s)

None

Condition(s)

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

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute of Arthritis and Musculoskeletal and Skin Diseases

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.

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Eligibility

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


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Citations:

Not Provided

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Contacts:

Principal Investigator

Referral Contact

For more information:

Michael J. Ombrello, M.D.
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
NIHBC 10 - CLINICAL CENTER BG RM 13C103A
10 CENTER DR
BETHESDA MD 20892
(301) 435-4037
ombrellomj@mail.nih.gov

Michelle R. Millwood
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
National Institutes of Health
Building 10
Room 6N226
10 Center Drive
Bethesda, Maryland 20892
(301) 827-1849
millwoodmr@mail.nih.gov

Office of Patient Recruitment
National Institutes of Health Clinical Center (CC)
Building 61, 10 Cloister Court
Bethesda, Maryland 20892
Toll Free: 1-800-411-1222
Local Phone: 301-451-4383
TTY: TTY Users Dial 7-1-1
ccopr@nih.gov

Clinical Trials Number:

NCT03510442

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