UMIN-CTR Clinical Trial
| Unique ID issued by UMIN | UMIN000060271 |
|---|---|
| Receipt number | R000068942 |
| Scientific Title | Investigation of autism spectrum disorder subtypes using blood DNA methylation analysis |
| Date of disclosure of the study information | 2026/01/06 |
| Last modified on | 2026/01/06 15:25:17 |
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Basic information
Public title
Molecular subtyping of autism spectrum disorder using blood DNA methylation
Acronym
ASD blood methylation subtyping study
Scientific Title
Investigation of autism spectrum disorder subtypes using blood DNA methylation analysis
Scientific Title:Acronym
ASD blood DNA methylation study
Region
| Japan |
Condition
Condition
Autism spectrum disorder
Classification by specialty
| Psychiatry |
Classification by malignancy
Others
Genomic information
YES
Objectives
Narrative objectives1
The objective of this study is to identify molecular subtypes of autism spectrum disorder using blood DNA methylation analysis and to characterize their biological features.
Basic objectives2
Others
Basic objectives -Others
This study is an observational analysis using existing anonymized blood DNA methylation data and is not intended to evaluate safety, efficacy, pharmacokinetics, or pharmacodynamics. The objective is to exploratorily identify and characterize molecular subtypes of autism spectrum disorder.
Trial characteristics_1
Exploratory
Trial characteristics_2
Explanatory
Developmental phase
Not applicable
Assessment
Primary outcomes
Identification of molecular subtypes of ASD by clustering based on blood DNA methylation data (at the time of analysis)
Key secondary outcomes
Identification of differentially methylated probes (DMPs) between subtypes with FDR correction
Functional/pathway analyses based on genes proximal to DMPs (e.g., GO analysis, Ingenuity Pathway Analysis)
Estimation of blood cell-type proportions using a reference-based method (e.g., GLINT) and their association with subtypes
Associations between subtypes and clinical phenotypes (ADI-R, ADOS, IQ, adaptive behavior, perinatal history, comorbidities, etc.)
Development of an AI-based prediction model for subtype classification
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
| 4 | years-old | <= |
Age-upper limit
| 18 | years-old | >= |
Gender
Male and Female
Key inclusion criteria
Individuals aged 4-18 years with autism spectrum disorder and controls included in the Simons Simplex Collection within the NIMH Data Archive, for whom blood DNA methylation data and relevant clinical information are available.
Key exclusion criteria
Individuals lacking blood DNA methylation data or essential clinical information in the database.
Target sample size
968
Research contact person
Name of lead principal investigator
| 1st name | Noritaka |
| Middle name | |
| Last name | Ichinohe |
Organization
National Center of Neurology and Psychiatry
Division name
Department of Ultrastructural Research, National Institute of Neuroscience
Zip code
187-8502
Address
4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, Japan
TEL
0423461719
nichinohe72@gmail.com
Public contact
Name of contact person
| 1st name | Noritaka |
| Middle name | |
| Last name | Ichinohe |
Organization
National Center of Neurology and Psychiatry
Division name
Department of Ultrastructural Research, National Institute of Neuroscience
Zip code
187-8502
Address
4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8502, Japan
TEL
0423461719
Homepage URL
nichinohe72@gmail.com
Sponsor or person
Institute
National Center of Neurology and Psychiatry
Institute
Department
Personal name
Noritaka Ichinohe
Funding Source
Organization
National Center of Neurology and Psychiatry
Organization
Division
Category of Funding Organization
Japanese Governmental office
Nationality of Funding Organization
Japan
Other related organizations
Co-sponsor
Name of secondary funder(s)
IRB Contact (For public release)
Organization
National Center of Neurology and Psychiatry
Address
4-1-1 Ogawahigashi-cho, Kodaira, Tokyo 187-8502, Japan
Tel
0423461719
nichinohe72@gmail.com
Secondary IDs
Secondary IDs
NO
Study ID_1
Org. issuing International ID_1
Study ID_2
Org. issuing International ID_2
IND to MHLW
東京都
Institutions
Institutions
Other administrative information
Date of disclosure of the study information
| 2026 | Year | 01 | Month | 06 | 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
968
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
No longer recruiting
Date of protocol fixation
| 2024 | Year | 04 | Month | 03 | Day |
Date of IRB
| 2024 | Year | 04 | Month | 04 | Day |
Anticipated trial start date
| 2024 | Year | 04 | Month | 04 | Day |
Last follow-up date
| 2027 | Year | 03 | Month | 30 | Day |
Date of closure to data entry
Date trial data considered complete
Date analysis concluded
Other
Other related information
This study is an observational study without new participant recruitment or intervention, based on secondary analysis of existing anonymized data obtained from the NIMH Data Archive (Simons Simplex Collection). Blood DNA methylation data are analyzed to identify molecular subtypes of autism spectrum disorder and to explore their associations with clinical and behavioral measures.
Management information
Registered date
| 2026 | Year | 01 | Month | 06 | Day |
Last modified on
| 2026 | Year | 01 | Month | 06 | Day |
Link to view the page
Value
https://center6.umin.ac.jp/cgi-open-bin/ctr_e/ctr_view.cgi?recptno=R000068942
