Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases Including Juvenile Dermatomyositis
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ClinicalTrials.gov Identifier: NCT00059748 |
Recruitment Status :
Recruiting
First Posted : May 6, 2003
Last Update Posted : May 8, 2024
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Tracking Information | |||||
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First Submitted Date | May 5, 2003 | ||||
First Posted Date | May 6, 2003 | ||||
Last Update Posted Date | May 8, 2024 | ||||
Actual Study Start Date | May 9, 2003 | ||||
Primary Completion Date | Not Provided | ||||
Current Primary Outcome Measures |
Identification of disease pathogenesis [ Time Frame: each visit ] Clinical, immunological, genetic and endocrinological characteristics of the disease
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Original Primary Outcome Measures | Not Provided | ||||
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Current Secondary Outcome Measures |
To develop long term clinical and laboratory outcome parameters of multiorgan involvement in patients and evaluation of blood, body fluid, and tissue biomarkers during disease flares and quiescence. [ Time Frame: each visit ] Subject is determined to be eligible or not eligible for enrollment onto a treatment or intervention protocol.
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Original Secondary Outcome Measures | Not Provided | ||||
Current Other Pre-specified Outcome Measures | Not Provided | ||||
Original Other Pre-specified Outcome Measures | Not Provided | ||||
Descriptive Information | |||||
Brief Title | Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases Including Juvenile Dermatomyositis | ||||
Official Title | Studies of Natural History, Pathogenesis, and Outcomes in Autoimmune and Inflammatory Diseases Including Juvenile Dermatomyositis | ||||
Brief Summary | 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:
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:
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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Detailed Description | Autoinflammatory multisystem diseases are a group of diseases that are characterized by recurrent episodes of systemic inflammation as well as organ specific inflammation that can involve the skin, eyes, joints, bones, serosal surfaces, inner ear, and brain. The prominent role of IL-1 in the pathogenesis of these disorders has first become evident through the discovery of mutations in CIAS1 causing the cryopyrin-associated periodic syndromes (CAPS) including the most severe presentation Neonatal Onset Multisystem Inflammatory Disease (NOMID). Over the years we identified additional autoinflammatory diseases including DIRA (Deficiency of IL-1 Receptor Antagonist), a disease that is caused by mutations in IL1RN. Therapy with anakinra, the IL-1 receptor antagonist, can be life-saving. We also study additional rare diseases not IL-1 mediated including CANDLE (chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperatures) caused by mutations in proteasome components, and recently SAVI (STING associated vasculopathy with onset in infancy) caused by mutations in TMEM173, and juvenile dematomyositis (JDM) which shares some phenotypic features as well as an interferon (IFN) signature with SAVI and CANDLE. Many additional autoinflammatory phenotypes have no genetic causes, including autoinflammatory disorders that are not even clinically defined. Clinical conditions including the spectrum CRMO (Chronic Recurrent Multifocal Osteomyelitis), Still s disease, and Beh(SqrRoot)(Beta)et s disease (BD) with possible involvement of IL-1 dysregulation are also of interest.. In this research protocol we seek to comprehensively evaluate affected patients clinically, genetically, immunologically, and endocrinologically. In addition we intend to evaluate longterm outcomes and biomarkers over the time of observations. Eligibility for ongoing and planned treatment protocols will be determined by screening patients in this protocol. We plan to evaluate patients on a consultative basis for other autoinflammatory diseases for possible enrollment into this study. | ||||
Study Type | Observational | ||||
Study Design | Observational Model: Cohort Time Perspective: Prospective |
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Target Follow-Up Duration | Not Provided | ||||
Biospecimen | Not Provided | ||||
Sampling Method | Non-Probability Sample | ||||
Study Population | Patients with auto inflammatory diseases | ||||
Condition |
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Intervention | Not Provided | ||||
Study Groups/Cohorts | 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.
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Publications * |
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* Includes publications given by the data provider as well as publications identified by ClinicalTrials.gov Identifier (NCT Number) in Medline. |
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Recruitment Information | |||||
Recruitment Status | Recruiting | ||||
Estimated Enrollment |
5000 | ||||
Original Enrollment |
9999 | ||||
Study Completion Date | Not Provided | ||||
Primary Completion Date | Not Provided | ||||
Eligibility Criteria |
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:
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Sex/Gender |
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Ages | 2 Years and older (Child, Adult, Older Adult) | ||||
Accepts Healthy Volunteers | No | ||||
Contacts |
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Listed Location Countries | United States | ||||
Removed Location Countries | |||||
Administrative Information | |||||
NCT Number | NCT00059748 | ||||
Other Study ID Numbers | 030173 03-AR-0173 |
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Has Data Monitoring Committee | Not Provided | ||||
U.S. FDA-regulated Product |
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IPD Sharing Statement | Not Provided | ||||
Current Responsible Party | National Institutes of Health Clinical Center (CC) ( National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) ) | ||||
Original Responsible Party | Not Provided | ||||
Current Study Sponsor | National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) | ||||
Original Study Sponsor | Same as current | ||||
Collaborators | Not Provided | ||||
Investigators |
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PRS Account | National Institutes of Health Clinical Center (CC) | ||||
Verification Date | December 19, 2023 |