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NCT Number: NCT07427940

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

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.

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Key information

Conditions

Autism Spectrum Disorder Child Development Disorders, Pervasive Mental Disorders Neurodevelopmental Disorders

Age range

3 year–15 year

Sex eligibility

All sexes

Study type

Interventional

Phase

Not applicable

Primary location

Foundation IRCCS Carlo Besta Neurological Institute

Milan, 20133, Italy

Location status: Recruiting

Location contact

Stefano D'arrigo, MD

CONTACT

[email protected]

02.2394. ext. 2210

About this study

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:

  • 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
  • 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.

Who can participate

Healthy volunteers accepted: Yes

Only the study team can determine whether someone qualifies for participation.

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.

Treatment and study plan

Blood sample collection for ASD cells model production and Omic studies

Biological

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.

Primary outcomes

  1. Measurement of severity of ASD core symptoms with ADOS2

    Time frame: 1 year

    Outcome unity of measure: Calibrated Severity Scores - Measure range: 1-10

  2. Measurement of severity of ASD core symptoms with SRS 2

    Time frame: 1 year

    Outcome unity of measure: T-score - Measure range: 30-90

  3. Measurement of developmental abilities with Griffiths III scales

    Time frame: 1 year

    Outcome unity of measure: GQ - Measure range: <20-150

  4. Measurement of cognitive abilities with Wechsler scales

    Time frame: 1 year

    Outcome unity of measure: IQ - Measure range: <20-160

  5. Measurement of cognitive abilities with Leiter 3 scales

    Time frame: 1 year

    Outcome unity of measure: IQ - Measure range: 40-160

  6. 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

  7. 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

  8. 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%

  9. Measurement of length of neurite growth in hiNSCs

    Time frame: 1 year

    Outcome unity of measure: µm - Measure range 0-500 µm

  10. 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

Study contacts

Contact information is provided by the study sponsor or research team.

Sara Bulgheroni

CONTACT

[email protected]

Stefano D'Arrigo, M.D.

CONTACT

[email protected]

02.2394.2210

Sponsors and collaborators

Lead sponsor

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

Other

Registry information

Acronym: Aut_Omic

Important dates

Study start
2024
Primary completion
2026
Study completion
2026
First posted
Feb 23, 2026
Registry last updated
Feb 23, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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