UMIN-CTR Clinical Trial
| Unique ID issued by UMIN | UMIN000061138 |
|---|---|
| Receipt number | R000069959 |
| Scientific Title | Comprehensive immunogenetic characterization of juvenile dermatomyositis using a large-scale functional genomics database |
| Date of disclosure of the study information | 2026/04/03 |
| Last modified on | 2026/04/02 15:36:05 |
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Basic information
Public title
Comprehensive immunogenetic characterization of juvenile dermatomyositis using a large-scale functional genomics database
Acronym
GUIDE-JDM
Scientific Title
Comprehensive immunogenetic characterization of juvenile dermatomyositis using a large-scale functional genomics database
Scientific Title:Acronym
GUIDE-JDM
Region
| Japan |
Condition
Condition
juvenile dermatomyositis
Classification by specialty
| Clinical immunology | Pediatrics | Child |
Classification by malignancy
Others
Genomic information
YES
Objectives
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
Basic objectives -Others
This study exploratorily evaluates the immunological and immunogenetic characteristics of juvenile dermatomyositis (JDM). In particular, it aims to identify features associated with differences in myositis-specific autoantibodies (MSAs) and clinical phenotypes, and to examine pediatric-specific disease mechanisms through comparison with adult-onset dermatomyositis.
Trial characteristics_1
Exploratory
Trial characteristics_2
Explanatory
Developmental phase
Not applicable
Assessment
Primary outcomes
Cell type-specific gene expression profiles and expression quantitative trait loci (eQTL) effects in peripheral blood mononuclear cells in patients with juvenile dermatomyositis (JDM) before treatment initiation and at 1 year after treatment initiation
Key secondary outcomes
1. Identification of immunological and immunogenetic characteristics associated with differences in myositis-specific autoantibodies (MSAs)
2. Identification of immunological and immunogenetic characteristics associated with differences in clinical features (e.g., disease activity and organ involvement)
3. Identification of JDM-specific immunological and immunogenetic characteristics through comparison with adult-onset dermatomyositis
Base
Study type
Observational
Study design
Basic design
Randomization
Randomization unit
Blinding
Control
Stratification
Dynamic allocation
Institution consideration
Blocking
Concealment
Intervention
No. of arms
Purpose of intervention
Type of intervention
Interventions/Control_1
Interventions/Control_2
Interventions/Control_3
Interventions/Control_4
Interventions/Control_5
Interventions/Control_6
Interventions/Control_7
Interventions/Control_8
Interventions/Control_9
Interventions/Control_10
Eligibility
Age-lower limit
| 3 | years-old | <= |
Age-upper limit
| Not applicable |
Gender
Male and Female
Key inclusion criteria
[Juvenile dermatomyositis (JDM) patients]
Participants must meet all of the following criteria:
1. Age >= 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 < 18 years
b) Presence of heliotrope rash, Gottron's papules, or Gottron's sign (not required in anti-NXP2 antibody positive cases)
c) Score thresholds: >= 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 sample size
20
Research contact person
Name of lead principal investigator
| 1st name | Yuzaburo |
| Middle name | |
| Last name | Inoue |
Organization
Chiba University
Division name
Graduate School of Medicine, Department of General Medical Science
Zip code
260-8670
Address
1-8-1 Inohana, Chuo-ku, Chiba, Chiba, Japan
TEL
043-226-2823
yuzaburo@chiba-u.jp
Public contact
Name of contact person
| 1st name | Yuzaburo |
| Middle name | |
| Last name | Inoue |
Organization
Chiba University
Division name
Graduate School of Medicine, Department of General Medical Science
Zip code
260-8670
Address
1-8-1 Inohana, Chuo-ku, Chiba, Chiba, Japan
TEL
043-226-2823
Homepage URL
yuzaburo@chiba-u.jp
Sponsor or person
Institute
Chiba University
Institute
Department
Personal name
Yuzaburo Inoue
Funding Source
Organization
Ministry of Education, Culture, Sports, Science and Technology (MEXT)
Organization
Division
Category of Funding Organization
Japanese Governmental office
Nationality of Funding Organization
Other related organizations
Co-sponsor
Name of secondary funder(s)
IRB Contact (For public release)
Organization
Chiba University Hospital
Address
1-8-1 Inohana, Chuo-ku, Chiba, Chiba, Japan
Tel
043-222-7171
hsp-seimei@chiba-u.jp
Secondary IDs
Secondary IDs
NO
Study ID_1
Org. issuing International ID_1
Study ID_2
Org. issuing International ID_2
IND to MHLW
Institutions
Institutions
東京大学医学部附属病院（東京都）、東京女子医科大学（東京都）、大分大学医学部（大分県）、岡山大学病院（岡山県）、鹿児島大学病院（鹿児島県）、金沢大学附属病院（石川県）、北里大学医学部（神奈川県）、岐阜大学大学院医学系研究科（岐阜県）、九州大学（福岡県）、京都大学医学部附属病院（京都府）、埼玉医科大学病院（埼玉県）、信州大学（長野県）、千葉県こども病院（千葉県）、東京科学大学（東京都）、獨協医科大学病院（栃木県）、長崎大学（長崎県）、新潟大学（新潟県）、日本医科大学千葉北総病院（千葉県）、日本医科大学付属病院（東京都）、浜松医科大学（静岡県）、兵庫県立こども病院（兵庫県）、広島大学病院（広島県）、福井大学医学部附属病院（福井県）、北海道大学病院（北海道）、山梨大学医学部（山梨県）、琉球大学（沖縄県）
Other administrative information
Date of disclosure of the study information
| 2026 | Year | 04 | Month | 03 | Day |
Related information
URL releasing protocol
Publication of results
Unpublished
Result
URL related to results and publications
Number of participants that the trial has enrolled
Results
Results date posted
Results Delayed
Results Delay Reason
Date of the first journal publication of results
Baseline Characteristics
Participant flow
Adverse events
Outcome measures
Plan to share IPD
IPD sharing Plan description
Progress
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 |
Date of closure to data entry
Date trial data considered complete
Date analysis concluded
Other
Other related information
This is a multicenter prospective cohort study involving patients with juvenile dermatomyositis (JDM) and control subjects. Eligible patients diagnosed at participating institutions are consecutively enrolled after obtaining written informed consent. The enrollment period is from April 2026 to March 2029.
Clinical data and blood samples are collected at the time of diagnosis (including before treatment initiation) and at 1 year after diagnosis. Control subjects consist of individuals without systemic immune-mediated or chronic inflammatory diseases, including patients with mild allergic conditions such as food allergy that do not involve systemic immune dysregulation.
Peripheral blood mononuclear cells (PBMCs) are isolated from whole blood at each site, cryopreserved, and transferred to a central laboratory. Additional blood samples are collected for whole-genome analysis. Previously collected PBMC samples may be used when available.
Single-cell RNA sequencing is performed to obtain gene expression profiles across immune cell subsets. These data are integrated with whole-genome sequencing data, and expression quantitative trait loci (eQTL) analysis is conducted using the ImmuNexUT database.
Statistical analyses include differential gene expression analysis, pathway analysis, and single-cell disease relevance score (scDRS) analysis, integrated with clinical data.
Management information
Registered date
| 2026 | Year | 04 | Month | 02 | Day |
Last modified on
| 2026 | Year | 04 | Month | 02 | Day |
Link to view the page
Value
https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000069959
