Autism Spectrum Disorder
Conditions
Keywords
Autism Spectrum Disorder, Neurodevelopmental disorders, iPSCs, hiNSCs, Microglia
Brief summary
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.
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.
Interventions
BIOLOGICALBlood 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.
Sponsors
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
BASIC_SCIENCE
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
3 Years to 15 Years
Healthy volunteers
Yes
Inclusion criteria
* Defined ASD diagnosis according to DSM-5 criteria * Age 3-15 years * Informed consent signed by the guardians/legal representatives.
Exclusion criteria
*
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Measurement of severity of ASD core symptoms with ADOS2 | 1 year | Outcome unity of measure: Calibrated Severity Scores - Measure range: 1-10 |
| Measurement of severity of ASD core symptoms with SRS 2 | 1 year | Outcome unity of measure: T-score - Measure range: 30-90 |
| Measurement of developmental abilities with Griffiths III scales | 1 year | Outcome unity of measure: GQ - Measure range: \<20-150 |
| Measurement of cognitive abilities with Wechsler scales | 1 year | Outcome unity of measure: IQ - Measure range: \<20-160 |
| Measurement of cognitive abilities with Leiter 3 scales | 1 year | Outcome unity of measure: IQ - Measure range: 40-160 |
| Quantification of emotional and behavioral problems with CBCL | 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 | 1 year | Outcome unity of measure: Gene expression - Measure range: yes/no |
| Percentage of hiNSCs differentiating into astrocytes, oligodendrocytes, and neurons | 1 year | Outcome unity of measure: % cells differentiated/tot numeber of cells - Measure range: 0-100% |
| Measurement of length of neurite growth in hiNSCs | 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 | 1 year | Outcome unity of measure: µmol/L - Measure range: 0.001 µmol/L - \>10,000 µmol/L |
Countries
Italy
Contacts
CONTACTStefano D'Arrigo, M.D.
CONTACTSara Bulgheroni
Outcome results
None listed