Tokyo, April 3 -- UMIN Clinical Trials Registry (UMIN-CTR) received information related to the study (UMIN000061138) titled 'Comprehensive immunogenetic characterization of juvenile dermatomyositis using a large-scale functional genomics database' on April 3.

Study Type: Observational

Primary Sponsor: Institute - Chiba University

Condition: Condition - juvenile dermatomyositis Classification by malignancy - Others Genomic information - YES

Objective: Narrative objectives1 - The objective of this study is to elucidate the immunological and immunogenetic characteristics of juvenile dermatomyositis (JDM) by integrating single-cell RNA sequencing of peripheral blood mononuclear cells with whole-genome analysis. Specifically, we aim to characterize cell type-specific gene expression profiles and to evaluate the effects of genetic variants on gene expression (expression quantitative trait loci, eQTLs) across immune cell subsets. In addition, we seek to identify immunological and immunogenetic features associated with myositis-specific autoantibodies (MSAs) and clinical phenotypes, thereby improving our understanding of disease pathogenesis. Ultimately, this study aims to contribute to disease stratification, early diagnosis, and the development of personalized therapeutic strategies in JDM. Basic objectives2 - Others

Eligibility: Age-lower limit - 3 years-old = 3 years at the time of consent 2. Newly diagnosed cases classified as definite or probable idiopathic inflammatory myopathy (IIM) according to the 2017 EULAR/ACR classification criteria, and meeting all of the following conditions: a) Age at disease onset = 7.5 (definite) or >= 5.5 (probable) without muscle biopsy, and >= 8.7 (definite) or >= 6.7 (probable) with muscle biopsy In addition, the Japanese diagnostic guideline for the Specified Chronic Pediatric Diseases Program is also reviewed as a reference 3. No prior treatment with the following: a) Systemic glucocorticoids b) Immunosuppressive agents (e.g., methotrexate, mycophenolate mofetil, azathioprine, tacrolimus, cyclosporine) c) Targeted therapies (e.g., rituximab, abatacept, belimumab, anifrolumab, tocilizumab, anti-TNF agents, JAK inhibitors) 4. Written informed consent obtained from a parent or legal guardian

[Controls] Participants must meet all of the following criteria: 1. Age >= 3 years at the time of consent 2. No history of immune mediated or chronic inflammatory diseases and not receiving long term immunosuppressive therapy (e.g., patients with food allergy) 3. Written informed consent obtained from a parent or legal guardian Key exclusion criteria - Individuals deemed inappropriate for participation in this study by the principal investigator Target Size - 20

Recruitment Status: Recruitment status - Enrolling by invitation Date of protocol fixation - 2026 Year 03 Month 04 Day Date of IRB - 2026 Year 03 Month 09 Day Anticipated trial start date - 2026 Year 04 Month 03 Day Last follow-up date - 2029 Year 03 Month 31 Day

To know more, visit https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000069959

Disclaimer: Curated by HT Syndication.