Omic Profile in Autism Spectrum Disorder: From Cellular Level Towards Future Treatments (Aut_Omic)

February 17, 2026 updated by: Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
This is an interventional non pharmacological study in pediatric patientis affected by Autism Spectrum Disorder. It ams to create a collection of iPSCs and hiNSCs derived from deeply characterized ASD patients, to omics-characterize the cells, and to study the behavioral pattern of microglia-like cells in the onset of ASD.

Study Overview

Status

Recruiting

Conditions

Intervention / Treatment

Detailed Description

ASD is a neurodevelopmental disorder affecting about 1 in 36 children and with a frequency increasing over time, thus delineating a significant social and public health problem that needs to be faced, as well as an important field of study and research.

This project starts from the idea that complex diseases such as ASD must be tackled with a multidisciplinary approach.

The investigators are collecting a large number of somatic cells from ASD patients who have been highly characterized and stratified in subgroups from a clinical, genetic, neurological and neuropsychological point and reprogramming these cells into induced pluripotent stem cells from which the cells of three embryonic germ layers originate.

Combining the expertise of the two Units, the project will have two short-term results:

  1. a large collection of cell models from highly characterized ASD patients that can be shared with scientific community to speed up the understanding of the causes of the disease
  2. the knowledge of pathological pathways of cells belonging to well characterized patients: omic analyses will be correlated to clinical/genetic data to understand if a specific subgroup has specific omic profile or the same profile is common to all ASD subgroups, if a specific clinical feature or genetic polymorphism is correlated with omic data.

Study Type

Interventional

Enrollment (Estimated)

100

Phase

  • Not Applicable

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Study Contact Backup

Study Locations

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

  • Child

Accepts Healthy Volunteers

Yes

Description

Inclusion Criteria:

  • Defined ASD diagnosis according to DSM-5 criteria
  • Age 3-15 years
  • Informed consent signed by the guardians/legal representatives.

Exclusion Criteria:

  • Exclusion criteria for Group 1 will be: having a defined genetic diagnosis or an overall clinical presentation strongly suggestive for a syndromic condition. For this definition we will apply the criteria ASD associated with at least one of the following: >=3 facial anomalies, >=1 major/>=2 minor malformation (following EUROCAT classification), clinical issue affecting >=2 systems. Children showing such phenotypes but having no current genetic diagnosis could not be included in the study. Patients with a syndromic presentation and confirmed genetic diagnosis will be included in the Syndromic Group 2.
  • No standardized test to establish diagnosis
  • Parents refusing to complete the consent form
  • Impossible blood sample collection.

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

  • Primary Purpose: Basic Science
  • Allocation: N/A
  • Interventional Model: Single Group Assignment
  • Masking: None (Open Label)

Arms and Interventions

Participant Group / Arm
Intervention / Treatment
Experimental: Single arm study
the arm is constituted by 100 pediatric patients (aged -15) with ASD diagnosis
Biological: Blood sample collection for ASD cells model production and Omic studies
The blood sample collection performed in the study is for research purposes only and therefore not collected for clinical purposes. The patient cohort is extensively studied and well stratified, so cell models production and subsequent Omic analyses could be cross-referenced with detailed phenotype data.

What is the study measuring?

Primary Outcome Measures

Outcome Measure
Measure Description
Time Frame
Measurement of severity of ASD core symptoms with ADOS2
Time Frame: 1 year
Outcome unity of measure: Calibrated Severity Scores - Measure range: 1-10
1 year
Measurement of severity of ASD core symptoms with SRS 2
Time Frame: 1 year
Outcome unity of measure: T-score - Measure range: 30-90
1 year
Measurement of developmental abilities with Griffiths III scales
Time Frame: 1 year
Outcome unity of measure: GQ - Measure range: <20-150
1 year
Measurement of cognitive abilities with Wechsler scales
Time Frame: 1 year
Outcome unity of measure: IQ - Measure range: <20-160
1 year
Measurement of cognitive abilities with Leiter 3 scales
Time Frame: 1 year
Outcome unity of measure: IQ - Measure range: 40-160
1 year
Quantification of emotional and behavioral problems with CBCL
Time Frame: 1 year
Outcome unity of measure: Raw score - Measure range: 0-200 for children <6 years old / and 0-226 for children 6-18 years old
1 year
Verification on iPSs of presence/absence of expression of stem cell genes and genes from the three embryonic layers
Time Frame: 1 year
Outcome unity of measure: Gene expression - Measure range: yes/no
1 year
Percentage of hiNSCs differentiating into astrocytes, oligodendrocytes, and neurons
Time Frame: 1 year
Outcome unity of measure: % cells differentiated/tot numeber of cells - Measure range: 0-100%
1 year
Measurement of length of neurite growth in hiNSCs
Time Frame: 1 year
Outcome unity of measure: µm - Measure range 0-500 µm
1 year
Measurement of concentration of distinct lipid molecular species in ASD derived cells and control derived cells in order to assess the differences in lipidomic profiles
Time Frame: 1 year
Outcome unity of measure: µmol/L - Measure range: 0.001 µmol/L - >10,000 µmol/L
1 year

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

August 31, 2024

Primary Completion (Estimated)

August 31, 2026

Study Completion (Estimated)

August 31, 2026

Study Registration Dates

First Submitted

December 19, 2024

First Submitted That Met QC Criteria

February 17, 2026

First Posted (Actual)

February 23, 2026

Study Record Updates

Last Update Posted (Actual)

February 23, 2026

Last Update Submitted That Met QC Criteria

February 17, 2026

Last Verified

February 1, 2026

More Information

Terms related to this study

Keywords

Additional Relevant MeSH Terms

Other Study ID Numbers

  • PNRR-MCNT1-2023-12377520
  • PNNR Funding (Other Grant/Funding Number: Ministry of Health)

Plan for Individual participant data (IPD)

Plan to Share Individual Participant Data (IPD)?

YES

IPD Plan Description

UO1 and UO2 will share data about all the 3 aims of the study: clinical phenotypes, cellular models and microglia findings.

IPD Sharing Time Frame

25 years, from August 31st 2024 to August 31st 2049.

IPD Sharing Access Criteria

Clinical and neuropsychological data are collected on paper support and than entered in REDCap by UO1 staff. Cellular and molecular data are collected and entered in REDCap by UO2 staff.

Only the clinical personnel involved in the study will have access to data, that could be accessed anytime but only from the Institutional Organizations participating in the study.

IPD Sharing Supporting Information Type

  • STUDY_PROTOCOL
  • SAP
  • ICF
  • CSR

Drug and device information, study documents

Studies a U.S. FDA-regulated drug product

No

Studies a U.S. FDA-regulated device product

No

This information was retrieved directly from the website clinicaltrials.gov without any changes. If you have any requests to change, remove or update your study details, please contact register@clinicaltrials.gov. As soon as a change is implemented on clinicaltrials.gov, this will be updated automatically on our website as well.

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