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

Part of paid clinical trials in Bethesda, Maryland.

Sponsor
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Study ID
NCT00059748
Status
Recruiting
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Conditions

  • Autoinflammatory Disease
  • Juvenile Dermatomyositis

Eligibility Criteria

Sex
ALL
Age
2 Years - 100 Years
Healthy Volunteers
Not accepted

Study Details

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.

Key Dates

Start date
May 9, 2003
Status verified
Nov 2025

Study Design

Enrollment
5,000 participants (estimated)

Arms

  • Arm: Patients affected with autoinflammatory diseases
    Subjects with known or suspected diagnosis of NOMID / CAPS, DIRA, CANDLE, SAVI, CRMO, Still s disease, Behcet s disease, JDM, and other autoinflammatory diseases.

Primary Outcome Measure

Identification of disease pathogenesis [ Time Frame: each visit ]

Central Contacts

Locations (1)

FacilityCityStateZIPSite coordinators
National Institutes of Health Clinical CenterBethesdaMaryland20892-

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