Evaluation of autoinflammatory diseases including juvenile dermatomyositis
Studies of Natural History, Pathogenesis, and Outcomes in Autoimmune and Inflammatory Diseases Including Juvenile Dermatomyositis
This study is testing how different autoinflammatory diseases, like juvenile dermatomyositis, affect patients over time and aims to find better ways to track their progress and response to treatment.
Quick facts
| Study type | Observational |
|---|---|
| Enrollment | 5000 (estimated) |
| Ages | 2 Years to 100 Years |
| Sex | All |
| Sponsor | National Institutes of Health Clinical Center (CC) NIH |
| Locations | 1 site (Bethesda, Maryland) |
| Trial ID | NCT00059748 on ClinicalTrials.gov |
What this trial studies
This study aims to comprehensively evaluate patients with autoinflammatory diseases, focusing on conditions like juvenile dermatomyositis, CANDLE, and SAVI. It involves clinical, genetic, and immunological assessments to understand disease progression and outcomes. The study also seeks to develop biomarkers for assessing disease activity and treatment response, while determining eligibility for ongoing treatment protocols. Patients will be followed over time to gather long-term data on their conditions.
Who should consider this trial
Good fit: Ideal candidates include patients aged 2 years and older with genetically defined autoinflammatory diseases or those fulfilling clinical criteria for juvenile dermatomyositis.
Not a fit: Patients with unrelated conditions or those who do not meet the specific criteria for autoinflammatory diseases may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved understanding and management of autoinflammatory diseases, potentially enhancing patient outcomes.
How similar studies have performed: While there have been studies on autoinflammatory diseases, this comprehensive approach focusing on multiple rare conditions is relatively novel.
Eligibility criteria
Show full inclusion / exclusion 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
Where this trial is running
Bethesda, Maryland
- National Institutes of Health Clinical Center — Bethesda, Maryland, United States (Recruiting)
Study contacts
- Principal investigator: Hanna Kim, M.D. — National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
- Study coordinator: Hanna Kim, M.D.
- Email: kimh11@mail.nih.gov
- Phone: (301) 594-6196
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.