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Protocol Details

Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases (NOMID/CAPS, DIRA, CANDLE, SAVI, CRMO, Still s Disease, Behcet s Disease, and other Undifferentiated Autoinflammatory Diseases)

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: 3
Max Age: N/A

Referral Letter Required

No

Population Exclusion(s)

None

Special Instructions

Currently Not Provided

Keywords

Central Nervous System Abnormalities;
Arthropathy;
Urticaria;
Papilledema;
Autoinflammation

Recruitment Keyword(s)

Neonatal Onset Multisystem Imflammatory;
Disease;
NOMID

Condition(s)

Urticaria;
Arthropathy;
Lymphadenopathy;
Nervous System Anomalies

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:

Subjects with known or suspected diagnosis of NOMID/CAPS, DIRA, CRMO, Still's disease, Behcet's disease, and other autoinflammatory diseases will be evaluated either at the outpatient or inpatient unit of the Clinical Center as indicated.

- Patients with NOMID/CAPS or DIRA, who are mutation positive for the disease or fulfill clinical criteria of the disease.

- Patients who have non infectious osteolytic bone lesions

- Patients who fulfill criteria for definite or probable Still's disease

- Patients who fulfill criteria for definite or probable Behcet's disease

- Patients with other suspected autoinflammatory diseases

There is:

- No age limit

- 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.

Relatives of patients with autoinflammatory diseases or healthy volunteers may be included for genetic testing in collaboration with Dr. Daniel Kastner's laboratory. 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.

EXCLUSION CRITERIA:

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

Inability to provide consent

Inability to return for follow up visits


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Citations:

Han S, Lin YC, Wu T, Salgado AD, Mexhitaj I, Wuest SC, Romm E, Ohayon J, Goldbach-Mansky R, Vanderver A, Marques A, Toro C, Williamson P, Cortese I, Bielekova B. Comprehensive immunophenotyping of cerebrospinal fluid cells in patients with neuroimmunological diseases. J Immunol. 2014 Mar 15;192(6):2551-63. doi: 10.4049/jimmunol.1302884. Epub 2014 Feb 7.

Sibley C, Yazici Y, Tascilar K, Khan N, Bata Y, Yazici H, Goldbach-Mansky R, Hatemi G. Beh(SqrRoot)(Beta)et Syndrome Manifestations and Activity in the United States versus Turkey - A Cross-sectional Cohort Comparison. J Rheumatol. 2014 Jul;41(7):1379-84. doi: 10.3899/jrheum.131227. Epub 2014 Jun 15.

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Contacts:

Principal Investigator

Referral Contact

For more information:

Robert A. Colbert, M.D.
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
BG 10-CRC RM 1-5142
10 CENTER DR
BETHESDA MD 20814
(301) 443-8935
colbertr@mail.nih.gov

Robert A. Colbert, M.D.
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
BG 10-CRC RM 1-5142
10 CENTER DR
BETHESDA MD 20814
(301) 443-8935
colbertr@mail.nih.gov

Patient Recruitment and Public Liaison Office
Building 61
10 Cloister Court
Bethesda, Maryland 20892-4754
Toll Free: 1-800-411-1222
TTY: 301-594-9774 (local),1-866-411-1010 (toll free)
Fax: 301-480-9793

prpl@mail.cc.nih.gov

Clinical Trials Number:

NCT00059748

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