UMIN-ICDS Clinical Trial

Public title

Elucidation of Disease Mechanisms and Establishment of a Stratification Platform for Autoimmune and Autoinflammatory Diseases through Cross-Disease Integration of Genomic and Spatial Multi-Omics Data

Acronym

A3UP AIID Omics Study

Scientific Title

Elucidation of Disease Mechanisms and Establishment of a Stratification Platform for Autoimmune and Autoinflammatory Diseases through Cross-Disease Integration of Genomic and Spatial Multi-Omics Data

Scientific Title:Acronym

A3UP AIID Omics Study

Region

Japan

Condition

Systemic lupus erythematosus, rheumatoid arthritis, idiopathic inflammatory myopathies, systemic sclerosis, Sjogrens syndrome, IgG4 related disease, ANCA associated vasculitis, other vasculitis syndromes, Castleman disease, TAFRO syndrome, familial Mediterranean fever, adult onset Stills disease, cryopyrin associated periodic syndrome, Tumor Necrosis Factor Receptor Associated Periodic Syndrome, Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Lymphadenitis Syndrome, VEXAS syndrome, Behcets disease, discoid lupus erythematosus, psoriasis and psoriatic arthritis, psoriasiform dermatosis, atopic dermatitis, pemphigus and pemphigoid like conditions and mucosal pemphigoid like conditions, vitiligo, prurigo, idiopathic acquired generalized anhidrosis, pyoderma gangrenosum, urticaria, cutaneous lymphoma, palmoplantar pustulosis, cutaneous granulomatosis, such as annular granuloma

Classification by specialty

Medicine in general	Endocrinology and Metabolism	Nephrology
Neurology	Clinical immunology	Dermatology
Adult

Classification by malignancy

Others

Genomic information

YES

Narrative objectives1

Elucidation of cross-disease immunopathologies in autoimmune and autoinflammatory diseases
Identification of disease-specific immunological characteristics
Screening for biomarkers to predict treatment response to biologics, molecularly targeted drugs, and other therapies
Identification of markers to aid in the stratification of disease subgroups
Elucidation of the spatial distribution of gene expression, protein expression, and chromatin states in affected organs, as well as intercellular interactions
Characterization of immunometabolic abnormalities in autoimmune and autoinflammatory diseases and elucidation of their relationship with immunological abnormalities and inflammatory pathophysiology
Elucidation of the relationship between serum antibody titers against periodontal disease-associated bacteria and disease activity and immunological markers in patients with autoimmune and autoinflammatory diseases
Exploring the genetic background associated with clinical phenotypes-such as treatment response, adverse events, disease activity, disease progression, and prognosis-in various diseases using methods such as GWAS, and elucidating their associations with gene expression, protein expression, and chromatin status
Among existing study participants, those with autoinflammatory diseases, Castleman disease, SLE, SjD, IIM, SSc, psoriasis, and autoimmune bullous diseases to prospectively evaluate the co-occurrence of ME/CFS and explore clinical, immunological, and genetic characteristics, including comparisons with cases of the same underlying disease without ME/CFS

Basic objectives2

Others

Basic objectives -Others

N/A

Trial characteristics_1

Trial characteristics_2

Developmental phase

Primary outcomes

Characteristics of immunological abnormality clusters (cell populations, protein signatures, autoantibody signatures, and chronic oral inflammation-related signatures) common to multiple diseases, as identified by flow cytometry, proteomics analysis, PhIP-seq analysis, and analysis of antibody titers against periodontal disease-associated bacteria
Disease-specific immunological characteristics (cell subsets, gene expression patterns, protein signatures, autoantibody profiles, and oral inflammation-associated antibody profiles) identified through multi-omics analysis (flow cytometry, proteomics, PhIP-seq, scRNA-seq, periodontal disease-associated bacterial antibody titer analysis, etc.)
Identification of multi-omics biomarkers (Olink, scRNA-seq, PhIP-seq, antibody titers against periodontal disease-associated bacteria, etc.) to predict treatment response to biologics, molecularly targeted drugs, and other therapies
Elucidation of the association between serum antibody titers against periodontal disease-associated bacteria and disease activity in patients with autoimmune and autoinflammatory diseases (target bacteria: Porphyromonas gingivalis, Aggregatibacter actinomycetemcomitans, Fusobacterium nucleatum)
Identification of genetic backgrounds and molecular signatures associated with clinical phenotypes such as treatment response, adverse events, disease activity, disease progression, and prognosis
Disease-associated immunological abnormalities (cell populations, protein signatures, autoantibody signatures) identified through comparison with healthy controls and disease-specific control groups

Key secondary outcomes

Study type

Observational

Basic design

Randomization

Randomization unit

Blinding

Control

Stratification

Dynamic allocation

Institution consideration

Blocking

Concealment

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

Age-lower limit

18

years-old

<=

Age-upper limit

Not applicable

Gender

Male and Female

Key inclusion criteria

Participants must meet all of the following criteria
Adult patients over 18 years old at the time of informed consent diagnosed with one of the following diseases;
Systemic lupus erythematosus, Rheumatoid arthritis, Idiopathic inflammatory myopathies, Hereditary muscle diseases, muscular dystrophy, congenital myopathies, metabolic muscle diseases, etc., Systemic sclerosis, Sjogrens disease, IgG4-related disease, ANCA-associated vasculitis, microscopic polyangiitis, polyangiitis nodosa, eosinophilic polyangiitis, Other vasculitis syndromes, giant cell arteritis, Takayasu arteritis, polyarteritis nodosa, IgA vasculitis, cryoglobulinemic vasculitis, antiglomerular basement membrane disease, Nephritic syndromes, tubulointerstitial nephritis, and metabolic kidney diseases, Castleman disease, TAFRO syndrome, Familial Mediterranean fever, Adult-onset Stills disease, CAPS, TRAPS, PFAPA syndrome, VEXAS syndrome, Psoriasis and psoriatic arthritis, Discoid lupus erythematosus, psoriasiform dermatitis, atopic dermatitis, vitiligo, prurigo, idiopathic acquired generalized anhidrosis, pyoderma gangrenosum, urticaria, angioedema, alopecia areata, hypertrophic dermoperiosteitis, elastic fiber pseudoxanthoma, serpiginous perforating elastic fiberosis, cutaneous lymphoma, Pemphigus, pemphigoid, and mucosal pemphigoid, Palmar-plantar pustulosis, cutaneous granulomatosis.
Disease Control Group
Healthy Controls
Individuals who have received a written explanation of the purpose and content of this study and have provided written informed consent to participate in the study. For study participants for whom only existing samples and information are used, this includes individuals who have followed the appropriate procedures, such as opting out, as specified in the research protocol.

Key exclusion criteria

Healthy control subjects who meet any of the following criteria: have a history of or current comorbidity of a disease listed in Inclusion Criterion 1; are currently taking immunosuppressive medications; have an active infectious disease; or are pregnant
Disease control subjects who do not meet the selection criteria for cases requiring differential diagnosis from the study disease
Any other subjects whom the principal investigator or a co-investigator deems unsuitable for participation in this study

Target sample size

550

Name of lead principal investigator

1st name	Tomohiro
Middle name
Last name	Koga

Organization

Nagasaki University Hospital

Division name

Department of Immunology and Rheumatology

Zip code

852-8501

Address

1-7-1, Sakamoto, Nagasaki, Japan

TEL

095-819-7262

Email

tkoga@nagasaki-u.ac.jp

Name of contact person

1st name	Remi
Middle name
Last name	Sumiyoshi

Organization

Nagasaki University Hospital

Division name

Department of Immunology and Rheumatology

Zip code

852-8501

Address

1-7-1, Sakamoto, Nagasaki, Japan

TEL

095-819-7262

Homepage URL

Email

remis@nagasaki-u.ac.jp

Institute

Nagasaki University

Institute

Department

Personal name

Organization

AMED

Organization

Division

Category of Funding Organization

Japanese Governmental office

Nationality of Funding Organization

Co-sponsor

Name of secondary funder(s)

Organization

Nagasaki University Hospital Research Ethics Committee

Address

1-7-1, Sakamoto, Nagasaki, Japan

Tel

095-819-7229

Email

kenkyurinri@ml.nagasaki-u.ac.jp

Secondary IDs

NO

Study ID_1

Org. issuing International ID_1

Study ID_2

Org. issuing International ID_2

IND to MHLW

Institutions

Date of disclosure of the study information

2026

Year

10

Month

01

Day

URL releasing protocol

Publication of results

Unpublished

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

Recruitment status

Preinitiation

Date of protocol fixation

2026

Year

09

Month

01

Day

Date of IRB

Anticipated trial start date

2026

Year

10

Month

15

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 related information

N/A

Registered date

2026

Year

09

Month

02

Day

Last modified on

2026

Year

09

Month

02

Day

Link to view the page

Value
https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000071874