Molecular profiling of cells from children with autism to help guide future treatments
Omic Profile in Autism Spectrum Disorder: From Cellular Level Towards Future Treatments
We will collect blood from children with autism aged 3–15 to make stem-cell models and analyze their molecular profiles to see if cellular patterns match different forms of autism.
Quick facts
| Phase | Not applicable |
|---|---|
| Study type | Interventional |
| Enrollment | 100 (estimated) |
| Ages | 3 Years to 15 Years |
| Sex | All |
| Sponsor | Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta Academic / other |
| Locations | 1 site (Milan) |
| Trial ID | NCT07427940 on ClinicalTrials.gov |
What this trial studies
This project collects blood from well-characterized children with autism and reprograms somatic cells into induced pluripotent stem cells (iPSCs) and human neural stem cells (hiNSCs). Researchers will perform multi-omics analyses and generate microglia-like cells to study cellular behaviors that could be involved in autism onset. Clinical, genetic, neurological, and neuropsychological data will be correlated with cellular omics to determine whether specific profiles map to clinical subgroups or common pathways. The resulting collection of patient-derived cell models and omics data will be shared with the research community to accelerate understanding of disease mechanisms.
Who should consider this trial
Good fit: Children aged 3–15 with a confirmed DSM-5 autism diagnosis whose guardians can provide informed consent are the intended participants, with separate grouping for patients who have confirmed syndromic genetic diagnoses.
Not a fit: Children who cannot provide a blood sample, lack a standardized diagnostic assessment, whose guardians refuse consent, or whose clinical presentation requires exclusion for syndromic classification may not receive benefit from participating.
Why it matters
Potential benefit: If successful, this could identify cellular and molecular signatures that help stratify autism subtypes and point to new targets for future treatments.
How similar studies have performed: Patient-derived iPSC and omics approaches have produced useful biological insights in autism and other neurodevelopmental disorders, but translation to new clinical treatments has been limited so far.
Eligibility criteria
Show full inclusion / exclusion criteria
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.
Where this trial is running
Milan
- Foundation IRCCS Carlo Besta Neurological Institute — Milan, Italy (Recruiting)
Study contacts
- Study coordinator: Stefano D'Arrigo, M.D.
- Email: stefano.darrigo@istituto-besta.it
- Phone: 02.2394.2210
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.