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.
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
Allocation
NA
Purpose
BASIC_SCIENCE
Masking
NONE
Enrollment
100
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.
Foundation IRCCS Carlo Besta Neurological Institute
Milan, Italy
RECRUITINGMeasurement of severity of ASD core symptoms with ADOS2
Outcome unity of measure: Calibrated Severity Scores - Measure range: 1-10
Time frame: 1 year
Measurement of severity of ASD core symptoms with SRS 2
Outcome unity of measure: T-score - Measure range: 30-90
Time frame: 1 year
Measurement of developmental abilities with Griffiths III scales
Outcome unity of measure: GQ - Measure range: \<20-150
Time frame: 1 year
Measurement of cognitive abilities with Wechsler scales
Outcome unity of measure: IQ - Measure range: \<20-160
Time frame: 1 year
Measurement of cognitive abilities with Leiter 3 scales
Outcome unity of measure: IQ - Measure range: 40-160
Time frame: 1 year
Quantification of emotional and behavioral problems with CBCL
Outcome unity of measure: Raw score - Measure range: 0-200 for children \<6 years old / and 0-226 for children 6-18 years old
Time frame: 1 year
Verification on iPSs of presence/absence of expression of stem cell genes and genes from the three embryonic layers
Outcome unity of measure: Gene expression - Measure range: yes/no
Time frame: 1 year
Percentage of hiNSCs differentiating into astrocytes, oligodendrocytes, and neurons
Outcome unity of measure: % cells differentiated/tot numeber of cells - Measure range: 0-100%
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.
Time frame: 1 year
Measurement of length of neurite growth in hiNSCs
Outcome unity of measure: µm - Measure range 0-500 µm
Time frame: 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
Outcome unity of measure: µmol/L - Measure range: 0.001 µmol/L - \>10,000 µmol/L
Time frame: 1 year