Omic Profile in Autism Spectrum Disorder: From Cellular Level Towards Future Treatments
Autism Spectrum Disorder
De qué trata este estudio
El registro no identifica actualmente este estudio como reclutando. Consulta su estado antes de planificar una evaluación.
- Tipo de estudio
- De intervención
- Fase
- No aplica
- Rango de edad
- 3 años - 15 años
- Sexo admitido
- Todos los sexos
- Voluntarios sanos
- Aceptados
- Participantes
- 100 Estimado
Estos son puntos de partida, no una decisión de elegibilidad. El equipo debe revisar todos los requisitos.
Las explicaciones y la navegación están en español. Los textos proporcionados por el registro, incluidos títulos, resúmenes y criterios, se conservan en su idioma original. Puedes pedir orientación en español a WCR.
Acerca de la investigación
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.
Leer la descripción completa
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.
¿Quién podría participar?
La lista siguiente contiene el texto del patrocinador. Puede incluir condiciones, tratamientos previos, resultados de pruebas y otros requisitos. Aparecer en tu búsqueda no significa que califiques.
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.
Tratamiento, grupos y participación
El registro puede describir tratamientos y duración sin incluir un calendario completo. Pide al equipo las visitas, procedimientos, riesgos, costos y alternativas. Mantén tu atención habitual salvo que tu médico te indique un cambio.
- Asignación
- No aplica
- Enmascaramiento
- Sin enmascaramiento
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.
Qué evalúan los investigadores
Estas medidas indican qué se estudia. No prueban que un tratamiento funcione.
Medidas principales
Measurement of severity of ASD core symptoms with ADOS2
Plazo: 1 year
Outcome unity of measure: Calibrated Severity Scores - Measure range: 1-10
Measurement of severity of ASD core symptoms with SRS 2
Plazo: 1 year
Outcome unity of measure: T-score - Measure range: 30-90
Measurement of developmental abilities with Griffiths III scales
Plazo: 1 year
Outcome unity of measure: GQ - Measure range: \<20-150
Measurement of cognitive abilities with Wechsler scales
Plazo: 1 year
Outcome unity of measure: IQ - Measure range: \<20-160
Measurement of cognitive abilities with Leiter 3 scales
Plazo: 1 year
Outcome unity of measure: IQ - Measure range: 40-160
Quantification of emotional and behavioral problems with CBCL
Plazo: 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
Plazo: 1 year
Outcome unity of measure: Gene expression - Measure range: yes/no
Percentage of hiNSCs differentiating into astrocytes, oligodendrocytes, and neurons
Plazo: 1 year
Outcome unity of measure: % cells differentiated/tot numeber of cells - Measure range: 0-100%
Measurement of length of neurite growth in hiNSCs
Plazo: 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
Plazo: 1 year
Outcome unity of measure: µmol/L - Measure range: 0.001 µmol/L - \>10,000 µmol/L
Revisa las tablas completas y sus limitaciones en el registro oficial.
Abrir resultados oficiales ↗Centros de investigación (1)
El estado general puede diferir del estado de un centro. Confirma la disponibilidad antes de trasladarte.
1 centros
Foundation IRCCS Carlo Besta Neurological InstituteMilan, ItalyEstado desconocido
Equipo y fechas
- Patrocinador principal
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
- Inicio del estudio
- 31 ago 2024 Real
- Finalización primaria
- 31 ago 2026 Real
- Finalización del estudio
- 28 feb 2027 Estimado
- Primera publicación
- 23 feb 2026 Real
- Última actualización
- 10 nov 2026 Real
Contactos oficiales del estudio
No hay un contacto central indicado. Revisa los centros y el registro oficial.
Título oficial del estudio
Omic Profile in Autism Spectrum Disorder: From Cellular Level Towards Future Treatments
Consulta a Wellness Clinical Research
Tu mensaje va a WCR, incluso si otra organización realiza este estudio. WCR puede orientarte, pero podría no realizar este estudio, tener acceso a su equipo ni poder inscribirte.
Fuente: API v2 de ClinicalTrials.gov. Patrocinadores e investigadores envían la información. La NLM no aprueba la seguridad ni la ciencia de todos los estudios registrados. Aviso del registro.
Consultado: 12 nov 2026 · Última actualización del registro: 10 nov 2026