NCT00059748

Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases Including Juvenile Dermatomyositis

Recruiting now Last updated 6 April 2026

What this trial tests

trial in Autoinflammatory Disease in 5,000 participants. Currently enrolling.

Timeline

9 May 2003

Quick facts

Lead sponsor	National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Status	Recruiting now
Study type	OBSERVATIONAL
Enrollment	5,000
Start date	9 May 2003
Sites	1 location across United States

Conditions studied

• Autoinflammatory Disease — all drugs for Autoinflammatory Disease →
• Juvenile Dermatomyositis — all drugs for Juvenile Dermatomyositis →

Sponsor

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

Who can join

Adults 2 to 100, any sex, with Autoinflammatory Disease or Juvenile Dermatomyositis. Patients with the condition only — healthy volunteers not accepted.

Sponsor's own description

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.

...

Publications & conference data

8 peer-reviewed publications reference this trial (live from Europe PMC):

1. Activated STING in a vascular and pulmonary syndrome.
   Liu Y, Jesus AA, Marrero B, Yang D, et al · · 2014 · cited 1086× · PMID 25029335 · DOI 10.1056/nejmoa1312625
2. An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist.
   Aksentijevich I, Masters SL, Ferguson PJ, Dancey P, et al · · 2009 · cited 660× · PMID 19494218 · DOI 10.1056/nejmoa0807865
3. An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome.
   Canna SW, de Jesus AA, Gouni S, Brooks SR, et al · · 2014 · cited 545× · PMID 25217959 · DOI 10.1038/ng.3089
4. Elevated basal serum tryptase identifies a multisystem disorder associated with increased TPSAB1 copy number.
   Lyons JJ, Yu X, Hughes JD, Le QT, et al · · 2016 · cited 294× · PMID 27749843 · DOI 10.1038/ng.3696
5. Anakinra use during pregnancy in patients with cryopyrin-associated periodic syndromes (CAPS).
   Chang Z, Spong CY, Jesus AA, Davis MA, et al · · 2014 · cited 62× · PMID 25223501 · DOI 10.1002/art.38811
6. A 24-month open-label study of canakinumab in neonatal-onset multisystem inflammatory disease.
   Sibley CH, Chioato A, Felix S, Colin L, et al · · 2015 · cited 47× · PMID 24906637 · DOI 10.1136/annrheumdis-2013-204877
7. Cerebrospinal Fluid Cytokines Correlate With Aseptic Meningitis and Blood-Brain Barrier Function in Neonatal-Onset Multisystem Inflammatory Disease: Central Nervous System Biomarkers in Neonatal-Onset Multisystem Inflammatory Disease Correlate With Central Nervous System Inflamma
   Rodriguez-Smith J, Lin YC, Tsai WL, Kim H, et al · · 2017 · cited 37× · PMID 28118536 · DOI 10.1002/art.40055
8. Behçet syndrome manifestations and activity in the United States versus Turkey -- a cross-sectional cohort comparison.
   Sibley C, Yazici Y, Tascilar K, Khan N, et al · · 2014 · cited 35× · PMID 24931953 · DOI 10.3899/jrheum.131227