NIH Clinical Center logo     America's Clinical Research Hospital File folder iconExplore the NIH
Clinical Center
Search the Studies - NIH Clinical Research Studies

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




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


Population Exclusion(s)


Special Instructions

Currently Not Provided


Central Nervous System Abnormalities;

Recruitment Keyword(s)

Neonatal Onset Multisystem Imflammatory;


Nervous System Anomalies

Investigational Drug(s)


Investigational Device(s)




Supporting Site

National Institute of Arthritis and Musculoskeletal and Skin Diseases


- Autoinflammatory diseases can cause fevers, rashes, joint and nerve problems, ulcers, and many other problems. Researchers want to study people with these diseases and their relatives to learn more about the diseases.


- To study the signs and symptoms of autoinflammatory diseases and find out why they cause inflammation.

To find things in blood, body fluids, and genes that cause these diseases. To collect information about people with these diseases.


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

- Healthy relatives.


- Participants will stay at or near the clinic for 3 5 days or more.

- All participants will have medical history, physical exam, and blood tests.

- Participants may have:

- Questions about their quality of life.

- Fluid taken by needle from a swollen joint.

- Tests of eyes, hearing, memory, and learning.

- Urine test.

- Questions about their symptoms.

- Small samples of skin taken.

- X-rays, CT scans, or MRI. For MRI, participants will lie still on a table in a metal cylinder for 45 minutes. The scanner makes loud knocking sounds. Participants will get earplugs. Some participants will have a contrast agent injected.

- Bone density scan. They will lie still for 5 minutes while pictures are taken.

- Coordination test.

- Fluid taken by needle from the spine.

- Pictures taken in a bathing suit or underwear.

- Gastrointestinal tests. Participants will drink a special solution. Then a tiny camera will go inside the body on a tube, or taken in a pill.

- Participants may return for follow-up visits.

--Back to Top--



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.


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

--Back to Top--


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.

--Back to Top--


Principal Investigator

Referral Contact

For more information:

Raphaela T. Goldbach-Mansky, M.D.
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
BG 10 RM 6D47B
(301) 435-6243

Michelle O'Brien, R.N.
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) 496-2237

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

Clinical Trials Number:


--Back to Top--


Contact the Patient Recruitment and Public Liaison Office for:

  • Details on how to participate in a study
  • Details on how to refer a patient to a study

NIH Clinical Studies Information Request

Contact the Office of Communications for:

  • General information about the NIH Clinical Center

Contact the Department Clinical Research Informatics, (DCRI) for:

  • Technical questions about Adobe Acrobat and the PDF format
  • Technical questions about this web server