Omic Profile in Autism Spectrum Disorder: From Cellular Level Towards Future Treatments
Autism Spectrum Disorder
What this study involves
The registry does not currently label this study as recruiting. Ask about its status before planning a screening visit.
- Study type
- Interventional
- Phase
- Not applicable
- Age range
- 3 years - 15 years
- Sex eligible
- All sexes
- Healthy volunteers
- Accepted
- Participants
- 100 Estimated
These are starting points, not an eligibility decision. The research team must review the full requirements.
About the research
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.
Read the full 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.
Who may be able to participate?
The list below is the sponsor’s full registry wording. It can include conditions, prior treatment, test results and other requirements. A match in search does not mean you qualify.
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, groups and participation
The registry may describe treatments and study duration without a complete visit calendar. Ask the study team for the exact schedule, procedures, risks, costs and alternatives. Keep your usual care plan unless your treating clinician tells you otherwise.
- Assignment
- Not applicable
- Masking
- No masking
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
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.
What researchers are measuring
Outcome measures describe what is being studied. They are not proof that a treatment works.
Primary measures
Measurement of severity of ASD core symptoms with ADOS2
Time frame: 1 year
Outcome unity of measure: Calibrated Severity Scores - Measure range: 1-10
Measurement of severity of ASD core symptoms with SRS 2
Time frame: 1 year
Outcome unity of measure: T-score - Measure range: 30-90
Measurement of developmental abilities with Griffiths III scales
Time frame: 1 year
Outcome unity of measure: GQ - Measure range: \<20-150
Measurement of cognitive abilities with Wechsler scales
Time frame: 1 year
Outcome unity of measure: IQ - Measure range: \<20-160
Measurement of cognitive abilities with Leiter 3 scales
Time frame: 1 year
Outcome unity of measure: IQ - Measure range: 40-160
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
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
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%
Measurement of length of neurite growth in hiNSCs
Time frame: 1 year
Outcome unity of measure: µm - Measure range 0-500 µm
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
Review the complete result tables and limitations in the official record.
Open official results ↗Research locations (1)
The overall study status and a local site’s status can differ. Confirm that location’s availability before traveling.
1 locations
Foundation IRCCS Carlo Besta Neurological InstituteMilan, ItalyStatus unknown
Study team and timeline
- Lead sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
- Study start
- Aug 31, 2024 Actual
- Primary completion
- Aug 31, 2026 Actual
- Study completion
- Feb 28, 2027 Estimated
- First posted
- Feb 23, 2026 Actual
- Last updated
- Nov 10, 2026 Actual
Official study contacts
No central contact is listed. Check the locations and the official record.
Official study title
Omic Profile in Autism Spectrum Disorder: From Cellular Level Towards Future Treatments
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Source: ClinicalTrials.gov API v2. Information is submitted by sponsors and investigators. NLM does not approve the safety or science of all listed studies. Registry disclaimer.
Retrieved: Nov 12, 2026 · Last registry update: Nov 10, 2026