Autism Spectrum DisorderAut_OmicNCT07427940
Omic Profile in Autism Spectrum Disorder: From Cellular Level Towards Future Treatments
A study testing Blood sample collection for ASD cells model production and Omic studies in people with Autism Spectrum Disorder, run by Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta at 1 site in Italy.
Trial 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… Read more about this study
- Who is it for?
- Ages 3 to 15 yearsHealthy volunteers can take part
- Conditions the study is for
- Autism Spectrum Disorder
- What is being tested?
- Blood sample collection for ASD cells model production and Omic studies
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 100 participants
- Where
- 1 siteItaly
- Study dates
- 31 Aug 2024to 31 Aug 2026
- Phase
- Interventional
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 to 15 years
- All sexes
- Healthy volunteers accepted
- Child
Who may be able to join
- Defined ASD diagnosis according to DSM-5 criteria
- Age 3-15 years
- Informed consent signed by the guardians/legal representatives.
Who cannot join
- 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.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
Sara Bulgheroni contact
Italy1 site, 1 recruiting
- Recruiting
Foundation IRCCS Carlo Besta Neurological Institute
Milan, 20133
Stefano D'arrigo, MD, 02.2394. ext. 2210, stefano.darrigo@istituto-besta.it
About this study
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 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:
- 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.
- Conditions
- Autism Spectrum Disorder
- Being tested
- Blood sample collection for ASD cells model production and Omic studies
- Keywords
- Autism Spectrum Disorder, Neurodevelopmental disorders, iPSCs, hiNSCs, Microglia
- Medical subject headings
- Autism Spectrum Disorder, Neurodevelopmental Disorders
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Blood sample collection for ASD cells model production and Omic studiesBiological
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.
| Study group | Role | What they receive |
|---|---|---|
| Single arm study | Experimental | the arm is constituted by 100 pediatric patients (aged -15) with ASD diagnosis Receives: Biological: Blood sample collection for ASD cells model production and Omic studies |
What is being measured
The primary outcome is the main question the study is designed to answer.
Measurement of severity of ASD core symptoms with ADOS2
Outcome unity of measure: Calibrated Severity Scores - Measure range: 1-10
Measured: 1 year
Measurement of severity of ASD core symptoms with SRS 2
Outcome unity of measure: T-score - Measure range: 30-90
Measured: 1 year
Measurement of developmental abilities with Griffiths III scales
Outcome unity of measure: GQ - Measure range: <20-150
Measured: 1 year
Measurement of cognitive abilities with Wechsler scales
Outcome unity of measure: IQ - Measure range: <20-160
Measured: 1 year
Measurement of cognitive abilities with Leiter 3 scales
Outcome unity of measure: IQ - Measure range: 40-160
Measured: 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
Measured: 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
Measured: 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%
Measured: 1 year
Measurement of length of neurite growth in hiNSCs
Outcome unity of measure: µm - Measure range 0-500 µm
Measured: 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
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Feb 2026
- Study start31 Aug 2024
- Primary completion31 Aug 2026 (estimated)
- Study completion31 Aug 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (19)Papers the sponsor has linked to this study.
- Other trials for Autism Spectrum DisorderStudies of the same condition, open and under way.
- More trials run by Fondazione I.R.C.C.S. Istituto Neurologico Carlo BestaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 100 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07427940
- Sponsor's protocol ID
- PNRR-MCNT1-2023-12377520
- Other IDs
- PNNR Funding
- Acronym
- Aut_Omic
- Status last verified
- Feb 2026
- First submitted
- 19 Dec 2024
- Last updated
- 23 Feb 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes: UO1 and UO2 will share data about all the 3 aims of the study: clinical phenotypes, cellular models and microglia findings.
Publications
Willsey AJ, Sanders SJ, Li M, Dong S, Tebbenkamp AT, Muhle RA, Reilly SK, Lin L, Fertuzinhos S, Miller JA, Murtha MT, Bichsel C, Niu W, Cotney J, Ercan-Sencicek AG, Gockley J, Gupta AR, Han W, He X, Hoffman EJ, Klei L, Lei J, Liu W, Liu L, Lu C, Xu X, Zhu Y, Mane SM, Lein ES, Wei L, Noonan JP, Roeder K, Devlin B, Sestan N, State MW. Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. Cell. 2013 Nov 21;155(5):997-1007. doi: 10.1016/j.cell.2013.10.020.
PubMed 24267886Wen Z, Nguyen HN, Guo Z, Lalli MA, Wang X, Su Y, Kim NS, Yoon KJ, Shin J, Zhang C, Makri G, Nauen D, Yu H, Guzman E, Chiang CH, Yoritomo N, Kaibuchi K, Zou J, Christian KM, Cheng L, Ross CA, Margolis RL, Chen G, Kosik KS, Song H, Ming GL. Synaptic dysregulation in a human iPS cell model of mental disorders. Nature. 2014 Nov 20;515(7527):414-8. doi: 10.1038/nature13716. Epub 2014 Aug 17.
PubMed 25132547Waizbard-Bartov E, Fein D, Lord C, Amaral DG. Autism severity and its relationship to disability. Autism Res. 2023 Apr;16(4):685-696. doi: 10.1002/aur.2898. Epub 2023 Feb 14.
PubMed 36786314Vargas DL, Nascimbene C, Krishnan C, Zimmerman AW, Pardo CA. Neuroglial activation and neuroinflammation in the brain of patients with autism. Ann Neurol. 2005 Jan;57(1):67-81. doi: 10.1002/ana.20315.
PubMed 15546155Turco EM, Giovenale AMG, Sireno L, Mazzoni M, Cammareri A, Marchioretti C, Goracci L, Di Veroli A, Marchesan E, D'Andrea D, Falconieri A, Torres B, Bernardini L, Magnifico MC, Paone A, Rinaldo S, Della Monica M, D'Arrigo S, Postorivo D, Nardone AM, Zampino G, Onesimo R, Leoni C, Caicci F, Raimondo D, Binda E, Trobiani L, De Jaco A, Tata AM, Ferrari D, Cutruzzola F, Mazzoccoli G, Ziviani E, Pennuto M, Vescovi AL, Rosati J. Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome. Cell Death Dis. 2022 Nov 21;13(11):981. doi: 10.1038/s41419-022-05410-7.
PubMed 36411275Sellgren CM, Sheridan SD, Gracias J, Xuan D, Fu T, Perlis RH. Patient-specific models of microglia-mediated engulfment of synapses and neural progenitors. Mol Psychiatry. 2017 Feb;22(2):170-177. doi: 10.1038/mp.2016.220. Epub 2016 Dec 13.
PubMed 27956744Ryan KJ, White CC, Patel K, Xu J, Olah M, Replogle JM, Frangieh M, Cimpean M, Winn P, McHenry A, Kaskow BJ, Chan G, Cuerdon N, Bennett DA, Boyd JD, Imitola J, Elyaman W, De Jager PL, Bradshaw EM. A human microglia-like cellular model for assessing the effects of neurodegenerative disease gene variants. Sci Transl Med. 2017 Dec 20;9(421):eaai7635. doi: 10.1126/scitranslmed.aai7635.
PubMed 29263232Rosati J, Ferrari D, Altieri F, Tardivo S, Ricciolini C, Fusilli C, Zalfa C, Profico DC, Pinos F, Bernardini L, Torres B, Manni I, Piaggio G, Binda E, Copetti M, Lamorte G, Mazza T, Carella M, Gelati M, Valente EM, Simeone A, Vescovi AL. Establishment of stable iPS-derived human neural stem cell lines suitable for cell therapies. Cell Death Dis. 2018 Sep 17;9(10):937. doi: 10.1038/s41419-018-0990-2.
PubMed 30224709Prince N, Chu SH, Chen Y, Mendez KM, Hanson E, Green-Snyder L, Brooks E, Korrick S, Lasky-Su JA, Kelly RS. Phenotypically driven subgroups of ASD display distinct metabolomic profiles. Brain Behav Immun. 2023 Jul;111:21-29. doi: 10.1016/j.bbi.2023.03.026. Epub 2023 Mar 31.
PubMed 37004757Rolland T, Cliquet F, Anney RJL, Moreau C, Traut N, Mathieu A, Huguet G, Duan J, Warrier V, Portalier S, Dry L, Leblond CS, Douard E, Amsellem F, Malesys S, Maruani A, Toro R, Borglum AD, Grove J, Baron-Cohen S, Packer A, Chung WK, Jacquemont S, Delorme R, Bourgeron T. Phenotypic effects of genetic variants associated with autism. Nat Med. 2023 Jul;29(7):1671-1680. doi: 10.1038/s41591-023-02408-2. Epub 2023 Jun 26.
PubMed 37365347Ormel PR, Bottcher C, Gigase FAJ, Missall RD, van Zuiden W, Fernandez Zapata MC, Ilhan D, de Goeij M, Udine E, Sommer IEC, Priller J, Raj T, Kahn RS, Hol EM, de Witte LD. A characterization of the molecular phenotype and inflammatory response of schizophrenia patient-derived microglia-like cells. Brain Behav Immun. 2020 Nov;90:196-207. doi: 10.1016/j.bbi.2020.08.012. Epub 2020 Aug 13.
PubMed 32798663Nimmerjahn A, Kirchhoff F, Helmchen F. Resting microglial cells are highly dynamic surveillants of brain parenchyma in vivo. Science. 2005 May 27;308(5726):1314-8. doi: 10.1126/science.1110647. Epub 2005 Apr 14.
PubMed 15831717Maenner MJ, Warren Z, Williams AR, Amoakohene E, Bakian AV, Bilder DA, Durkin MS, Fitzgerald RT, Furnier SM, Hughes MM, Ladd-Acosta CM, McArthur D, Pas ET, Salinas A, Vehorn A, Williams S, Esler A, Grzybowski A, Hall-Lande J, Nguyen RHN, Pierce K, Zahorodny W, Hudson A, Hallas L, Mancilla KC, Patrick M, Shenouda J, Sidwell K, DiRienzo M, Gutierrez J, Spivey MH, Lopez M, Pettygrove S, Schwenk YD, Washington A, Shaw KA. Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years - Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2020. MMWR Surveill Summ. 2023 Mar 24;72(2):1-14. doi: 10.15585/mmwr.ss7202a1.
PubMed 36952288Liu X, Campanac E, Cheung HH, Ziats MN, Canterel-Thouennon L, Raygada M, Baxendale V, Pang AL, Yang L, Swedo S, Thurm A, Lee TL, Fung KP, Chan WY, Hoffman DA, Rennert OM. Idiopathic Autism: Cellular and Molecular Phenotypes in Pluripotent Stem Cell-Derived Neurons. Mol Neurobiol. 2017 Aug;54(6):4507-4523. doi: 10.1007/s12035-016-9961-8. Epub 2016 Jun 29.
PubMed 27356918Lim M, Carollo A, Dimitriou D, Esposito G. Recent Developments in Autism Genetic Research: A Scientometric Review from 2018 to 2022. Genes (Basel). 2022 Sep 14;13(9):1646. doi: 10.3390/genes13091646.
PubMed 36140813
Study at a glance
From the registry record, last updated by the sponsor on 23 Feb 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Omic Profile in Autism Spectrum Disorder: From Cellular Level Towards Future Treatments
- ClinicalTrials.gov ID
- NCT07427940
- Acronym / sponsor ID
- Aut_Omic / PNRR-MCNT1-2023-12377520
- Conditions
- Autism Spectrum Disorder
- Keywords
- Autism Spectrum Disorder, Neurodevelopmental disorders, iPSCs, hiNSCs, Microglia
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 100 participants (estimated)
- Lead sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo BestaUniversity, hospital or other
- Study start
- 31 Aug 2024 (actual)
- Primary completion
- 31 Aug 2026 (estimated)
- Study completion
- 31 Aug 2026 (estimated)
- First posted
- 23 Feb 2026 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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:
- 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.
Study design
- Primary purpose
- Basic science
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Single arm study | Experimental | Biological: Blood sample collection for ASD cells model production and Omic studiesthe arm is constituted by 100 pediatric patients (aged -15) with ASD diagnosis |
Who may qualify
- Ages
- 3 to 15 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child
Key inclusion criteria (3 listed)
- Defined ASD diagnosis according to DSM-5 criteria
- Age 3-15 years
- Informed consent signed by the guardians/legal representatives.
Key exclusion criteria (4 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Blood sample collection for ASD cells model production and Omic studiesThe 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. | Biological | Single arm study |
Primary outcome
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
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 23 Feb 2026.
- Background: PubMed 24267886Willsey AJ, Sanders SJ, Li M, Dong S, Tebbenkamp AT, Muhle RA, Reilly SK, Lin L, Fertuzinhos S, Miller JA, Murtha MT, Bichsel C, Niu W, Cotney J, Ercan-Sencicek AG, Gockley J, Gupta AR, Han W, He X, Hoffman EJ, Klei L, Lei J, Liu W, Liu L, Lu C, Xu X, Zhu Y, Mane SM, Lein ES, Wei L, Noonan JP, Roeder K, Devlin B, Sestan N, State MW. Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism. Cell. 2013 Nov 21;155(5):997-1007. doi: 10.1016/j.cell.2013.10.020.
- Background: PubMed 25132547Wen Z, Nguyen HN, Guo Z, Lalli MA, Wang X, Su Y, Kim NS, Yoon KJ, Shin J, Zhang C, Makri G, Nauen D, Yu H, Guzman E, Chiang CH, Yoritomo N, Kaibuchi K, Zou J, Christian KM, Cheng L, Ross CA, Margolis RL, Chen G, Kosik KS, Song H, Ming GL. Synaptic dysregulation in a human iPS cell model of mental disorders. Nature. 2014 Nov 20;515(7527):414-8. doi: 10.1038/nature13716. Epub 2014 Aug 17.
- Background: PubMed 36786314Waizbard-Bartov E, Fein D, Lord C, Amaral DG. Autism severity and its relationship to disability. Autism Res. 2023 Apr;16(4):685-696. doi: 10.1002/aur.2898. Epub 2023 Feb 14.
- Background: PubMed 15546155Vargas DL, Nascimbene C, Krishnan C, Zimmerman AW, Pardo CA. Neuroglial activation and neuroinflammation in the brain of patients with autism. Ann Neurol. 2005 Jan;57(1):67-81. doi: 10.1002/ana.20315.
- Background: PubMed 36411275Turco EM, Giovenale AMG, Sireno L, Mazzoni M, Cammareri A, Marchioretti C, Goracci L, Di Veroli A, Marchesan E, D'Andrea D, Falconieri A, Torres B, Bernardini L, Magnifico MC, Paone A, Rinaldo S, Della Monica M, D'Arrigo S, Postorivo D, Nardone AM, Zampino G, Onesimo R, Leoni C, Caicci F, Raimondo D, Binda E, Trobiani L, De Jaco A, Tata AM, Ferrari D, Cutruzzola F, Mazzoccoli G, Ziviani E, Pennuto M, Vescovi AL, Rosati J. Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome. Cell Death Dis. 2022 Nov 21;13(11):981. doi: 10.1038/s41419-022-05410-7.
- Background: PubMed 27956744Sellgren CM, Sheridan SD, Gracias J, Xuan D, Fu T, Perlis RH. Patient-specific models of microglia-mediated engulfment of synapses and neural progenitors. Mol Psychiatry. 2017 Feb;22(2):170-177. doi: 10.1038/mp.2016.220. Epub 2016 Dec 13.
- Background: PubMed 29263232Ryan KJ, White CC, Patel K, Xu J, Olah M, Replogle JM, Frangieh M, Cimpean M, Winn P, McHenry A, Kaskow BJ, Chan G, Cuerdon N, Bennett DA, Boyd JD, Imitola J, Elyaman W, De Jager PL, Bradshaw EM. A human microglia-like cellular model for assessing the effects of neurodegenerative disease gene variants. Sci Transl Med. 2017 Dec 20;9(421):eaai7635. doi: 10.1126/scitranslmed.aai7635.
- Background: PubMed 30224709Rosati J, Ferrari D, Altieri F, Tardivo S, Ricciolini C, Fusilli C, Zalfa C, Profico DC, Pinos F, Bernardini L, Torres B, Manni I, Piaggio G, Binda E, Copetti M, Lamorte G, Mazza T, Carella M, Gelati M, Valente EM, Simeone A, Vescovi AL. Establishment of stable iPS-derived human neural stem cell lines suitable for cell therapies. Cell Death Dis. 2018 Sep 17;9(10):937. doi: 10.1038/s41419-018-0990-2.
- Background: PubMed 37004757Prince N, Chu SH, Chen Y, Mendez KM, Hanson E, Green-Snyder L, Brooks E, Korrick S, Lasky-Su JA, Kelly RS. Phenotypically driven subgroups of ASD display distinct metabolomic profiles. Brain Behav Immun. 2023 Jul;111:21-29. doi: 10.1016/j.bbi.2023.03.026. Epub 2023 Mar 31.
- Background: PubMed 37365347Rolland T, Cliquet F, Anney RJL, Moreau C, Traut N, Mathieu A, Huguet G, Duan J, Warrier V, Portalier S, Dry L, Leblond CS, Douard E, Amsellem F, Malesys S, Maruani A, Toro R, Borglum AD, Grove J, Baron-Cohen S, Packer A, Chung WK, Jacquemont S, Delorme R, Bourgeron T. Phenotypic effects of genetic variants associated with autism. Nat Med. 2023 Jul;29(7):1671-1680. doi: 10.1038/s41591-023-02408-2. Epub 2023 Jun 26.
- Background: PubMed 32798663Ormel PR, Bottcher C, Gigase FAJ, Missall RD, van Zuiden W, Fernandez Zapata MC, Ilhan D, de Goeij M, Udine E, Sommer IEC, Priller J, Raj T, Kahn RS, Hol EM, de Witte LD. A characterization of the molecular phenotype and inflammatory response of schizophrenia patient-derived microglia-like cells. Brain Behav Immun. 2020 Nov;90:196-207. doi: 10.1016/j.bbi.2020.08.012. Epub 2020 Aug 13.
- Background: PubMed 15831717Nimmerjahn A, Kirchhoff F, Helmchen F. Resting microglial cells are highly dynamic surveillants of brain parenchyma in vivo. Science. 2005 May 27;308(5726):1314-8. doi: 10.1126/science.1110647. Epub 2005 Apr 14.
- Individual participant dataSharing planned: Yes. UO1 and UO2 will share data about all the 3 aims of the study: clinical phenotypes, cellular models and microglia findings.
Related trials for Autism Spectrum Disorder
RecruitingPhase 1
Cannabidiol (CBD) in Adults With ASD
Autism Spectrum Disorder
RecruitingPhase 3
A Study to Evaluate the Long-term Safety and Tolerability of Xanomeline and Trospium Chloride for the Treatment of Psychiatric Disorders in Children and Adolescents
Schizophrenia, Autism-Related Irritability
Not yet recruiting
Sensory-integration Therapy Verses Augumented Reality-based Training in ASD
Autism Spectrum Disorder
Recruiting
Cumulative and Booster Effects of Multisession Prefrontal tDCS in ASD Adolescents
Transcranial Direct Current Stimulation, Autistic Spectrum Disorder
Not yet recruiting
"Family Resilience And Mind-body Enhancement" (FRAME): A Randomised Controlled Trial
Autism
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Sara Bulgheroni contact
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Blood sample collection for ASD cells model production and Omic studies in people with Autism Spectrum Disorder, run by Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta at 1 site in Italy.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 23 Feb 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Italy. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Stefano D'Arrigo, M.D. (02.2394.2210, stefano.darrigo@istituto-besta.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Measurement of severity of ASD core symptoms with ADOS2 (time frame: 1 year). The study lists 10 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT07427940, which also lists 19 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 23 Feb 2026.