NCT00059748 Studies of the Natural History, Pathogenesis, and Outcome of Autoinflammatory Diseases Including Juvenile Dermatomyositis
| NCT ID | NCT00059748 |
| Status | Recruiting |
| Phase | — |
| Sponsor | National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) |
| Condition | Autoinflammatory Disease |
| Study Type | OBSERVATIONAL |
| Enrollment | 5,000 participants |
| Start Date | 2003-05-09 |
| Primary Completion | — |
Eligibility & Interventions
Eligibility Fast-Check
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What to Expect as a Participant
This is an observational study. You will not receive an experimental treatment; researchers will collect data based on your existing condition or standard treatment.
This trial targets 5,000 participants in total. It began in 2003-05-09.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
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: * 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. ...
Eligibility Criteria
* INCLUSION CRITERIA: * Patients with CANDLE, SAVI, and JDM who are mutation positive for the disease or fulfill clinical criteria of the disease. * Patients who fulfill criteria for definite or probable JDM * Patients with other suspected autoinflammatory diseases * There is: * 2 years old or older * 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 to the protocol whenever possible. 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. 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: * Active malignancy or any medical condition that in the opinion of the investigator would warrant exclusion * Inability to return for follow up visits * Pregnancy * Adults without the capacity to consent
Contact & Investigator
Hanna Kim, M.D.
PRINCIPAL INVESTIGATOR
National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
Frequently Asked Questions
Who can join the NCT00059748 clinical trial?
This trial is open to participants of all sexes, aged 2 Years or older, up to 100 Years, studying Autoinflammatory Disease. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
Is NCT00059748 currently recruiting?
Yes, NCT00059748 is actively recruiting participants. Contact the research team at kimh11@mail.nih.gov for enrollment information.
Where is the NCT00059748 trial being conducted?
This trial is being conducted at Bethesda, United States.
Who is sponsoring the NCT00059748 clinical trial?
NCT00059748 is sponsored by National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). The principal investigator is Hanna Kim, M.D. at National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS). The trial plans to enroll 5,000 participants.