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Protocol Details

Studies of Natural History, Pathogenesis, and Outcomes in Autoimmune and Inflammatory Diseases Including Juvenile Dermatomyositis

This study is currently recruiting participants.

Summary | Eligibility | Citations | Contacts

Summary

Number

03-AR-0173

Sponsoring Institute

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

Recruitment Detail

Type: Participants currently recruited/enrolled
Gender: Male & Female
Min Age: 2 Years
Max Age: N/A

Referral Letter Required

Yes

Population Exclusion(s)

None

Keywords

Myositis;
JDM;
Immune Dysregulation;
Skin Rash;
Inflammation;
Natural History

Recruitment Keyword(s)

None

Condition(s)

Autoinflammatory Disease;
Juvenile Dermatomyositis

Investigational Drug(s)

None

Investigational Device(s)

None

Intervention(s)

None

Supporting Site

National Institute of Arthritis and Musculoskeletal and Skin Diseases

Purpose:

The purpose of this protocol is 1. To comprehensively evaluate patients with autoinflammatory diseases clinically, genetically and immunologically at the autoinflammatory disease clinic at the NIH. 2. To follow patients with autoinflammatory Diseases that are genetically defined including Neonatal-Onset Multisystem Inflammatory Disease (NOMID), the most severe clinical phenotype of Cryopyrin-Associated Periodic Syndromes (CAPS), Deficiency of IL-1 Receptor Antagonist (DIRA), Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated temperatures (CANDLE), and STING-Associated Vasculopathy with onset in Infancy (SAVI), and those with genetically undefined autoinflammatory disorders to determine long-term disease outcomes. 3. To develop biomarkers that help us assess disease activity and response to treatment. 4. To assess the eligibility of affected patients for inclusion in ongoing and planned treatment protocols.

Goal: The goals of our studies are to understand the underlying immune dysregulation, to identify the genetic cause and to translate our findings into novel treatments that improve patients disease outcome.

Eligibility:

- Patients with known NOMID/CAPS, DIRA, CANDLE, SAVI, CRMO, Still's Disease, and with other yet undifferentiated autoinflammatory diseases.

- Healthy adult and pediatric relatives.

- Volunteers

Design:

Participants will be evaluated at the NIH for 2-5 days. All participants will have a detailed medical history, physical exam, blood tests and other evaluations depending on the extend of their autoinflammatory disease.

Participants may also expect the following assessments:

1. Clinical test that help assess organ damage and functional impact such as hearing vision, memory and learning tests.

2. Imaging studies to characterize the organ involvement of the inflammatory disease including: X-rays, CT scans, special MRIs, bone scans.

3. Laboratory evaluations including clinical markers of disease activity, research samples for genetic studies, and blood samples for cytokine/biomarker assessment, and gene expression profiling.<TAB>

4. Completion of questionnaires to assess disease activity and quality of life.

5. If indicated, other procedures may be administered that include: a lumbar puncture if CNS inflammation is suspected and a skin biopsy if skin inflammation is present. other gastrointestinal procedures as they are clinically indicated.

6. Patients my have a research skin biopsy taken.

Participants may return for a single follow-up visits or for long term-follow up depending on their disease and willingness to be followed long-term.

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Eligibility

INCLUSION CRITERIA:

- Patients with CANDLE, SAVI, and JDM who are mutation positive for the disease or fulfill clinical criteria of the disease.

- Patients who fulfill criteria for definite or probable JDM

- Patients with other suspected autoinflammatory diseases

-There is:

-- 2 years old or older

-- Patients or their legal guardians need to be able and willing to give informed consent and a pediatric patient needs to be willing to assent to the protocol whenever possible.

Relatives of patients with autoinflammatory diseases or healthy volunteers may be included for genetic testing. The genetic evaluations will be conducted in collaboration with Dr. Fleisher s laboratory at the Clinical Center laboratory and other groups. See genetics consent form. We may also collect blood for serum and RNA analyses to establish a cohort of healthy controls that is matched in age, gender and ethnicity to the study patients. Skin biopsies for research may be requested from patients, patient relatives and healthy volunteers

EXCLUSION CRITERIA:

-Active malignancy or any medical condition that in the opinion of the investigator would warrant exclusion

-Inability to return for follow up visits

- Pregnancy

- Adults without the capacity to consent


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Citations:

Not Provided

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Contacts:

Principal Investigator

Referral Contact

For more information:

Hanna Kim, M.D.
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
NIHBC 10 - CLINICAL CENTER BG RM 12N248B
10 CENTER DR
BETHESDA MD 20892
(301) 594-6196
kimh11@mail.nih.gov

Hanna Kim, M.D.
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
NIHBC 10 - CLINICAL CENTER BG RM 12N248B
10 CENTER DR
BETHESDA MD 20892
(301) 594-6196
kimh11@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:

NCT00059748

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