跳至主要内容
临床试验/NCT06662591
NCT06662591尚未招募不适用

A Multi-Center Multi-Omics Approach for Investigating Genetic and Epigenetic Mechanisms in Autism Spectrum Disorder

Research and Treatment Society of Genetic Disorders20 个研究点 分布在 1 个国家目标入组 3,000 人开始时间: 2025年12月27日最近更新:
适应症

试验速览

阶段
不适用
状态
尚未招募
发起方
入组人数
3,000
试验地点
20
主要终点
Finalization of Clinical Data Recruitment

研究概览

简要总结

The goal of this observational study is to investigate the genetic and epigenetic mechanisms that may contribute to the development of Autism Spectrum Disorder (ASD) in individuals of different age groups. The study aims to explore how genetic variants and environmental factors interact to influence the risk of ASD.

The main questions it aims to answer are:

  • Which genetic variants are most strongly associated with the development of ASD?
  • How do environmental factors, such as prenatal exposure, influence these genetic risks?
  • Can the combination of genetic and epigenetic data improve early detection or intervention strategies for ASD?

Participants will:

  • Provide biological samples for genetic and epigenetic analysis.
  • Complete detailed questionnaires regarding environmental exposures and family history.
  • Participate in clinical assessments to evaluate the severity of ASD symptoms.

Researchers will compare genetic and environmental data between individuals with ASD and those without the disorder to understand how these factors may contribute to the risk of ASD. This multi-center study will take place across several universities and hospitals in Türkiye, focusing on the potential interplay between inherited genetic factors and environmental influences.

详细描述

Introduction to the Project The project represents an innovative, multi-center study aimed at investigating the genetic, epigenetic, and environmental underpinnings of Autism Spectrum Disorder (ASD). ASD is a complex neurodevelopmental condition that typically presents in early childhood and affects individuals in diverse ways, particularly in social communication and behavior. The disorder is marked by significant variability in symptom severity and presentation across individuals. Despite years of research, the molecular mechanisms driving the onset and progression of ASD remain elusive, making diagnosis and treatment challenging.

This research aims to fill this gap by using a multi-omics approach to better understand the biological, genetic, and environmental factors contributing to ASD. Through the integration of genomic, epigenomic, and transcriptomic data, the project seeks to uncover molecular signatures and interactions that could explain the variability in ASD presentation and severity. Additionally, the study aims to identify potential biomarkers that could lead to earlier diagnosis, better prognosis, and more personalized treatment options.

The study will be conducted across multiple research centers, with a structured and well-coordinated approach to data collection, sample processing, and analysis. This multi-disciplinary project brings together a range of expertise, including genetics, bioinformatics, clinical psychiatry, and data science, ensuring that all aspects of the research are approached with scientific rigor and precision. By analyzing samples from individuals with ASD, the project will provide new insights into the genetic and epigenetic factors involved in ASD, while also investigating the potential influence of environmental factors.

Multi-Departmental Structure and Project Integrity The project is organized into multiple specialized departments, each with a specific role in maintaining the integrity of the study and ensuring that all research activities are conducted to the highest standards. This structure allows for seamless collaboration between departments and ensures that all data is collected, processed, and analyzed with the utmost accuracy.

Overall Coordination and Oversight At the highest level, the project is managed by an overall coordinator who oversees all aspects of the research. This coordinator ensures that each department adheres to the project's goals and timeline, fostering communication between teams and facilitating the integration of clinical, genetic, and epigenetic data. Coordination ensures that any challenges arising in the course of the study are promptly addressed and that the project remains on track to meet its objectives.

研究设计

研究类型
Observational
观察模型
Case Control
时间视角
Prospective

入排标准

性别
All
接受健康志愿者

入选标准

  • Autism Spectrum Disorder (ASD) or Autism-like Traits: Individuals diagnosed with ASD based on DSM-5 diagnostic criteria, or those displaying significant autism traits without a formal diagnosis.
  • Healthy Control Group: Age-, gender-, and socio-demographically matched individuals without any psychiatric or neurological disorder.
  • ASD Individuals of Varying Functional Levels: Participants with ASD from a broad range of functional abilities, from high-functioning to low-functioning autism.
  • Comorbid Conditions: Inclusion of volunteers with developmental profiles and comorbid conditions such as ADHD and learning disabilities.
  • Informed Consent: Written informed consent from participants over 18 years of age. For participants under 18, consent from parents or legal guardians.

排除标准

  • Severe Psychotic Disorders: Individuals diagnosed with conditions like schizophrenia or schizoaffective disorder.
  • Known Genetic Syndromes or Chromosomal Anomalies: Individuals with genetic conditions such as Down syndrome or Fragile X syndrome.
  • History of Genetic or Experimental Therapies: Participants with previous gene or cell therapy, frequent blood transfusions, or bone marrow transplants.
  • Severe Communication or Cognitive Impairments: Participants with communication or cognitive disorders that would hinder their ability to participate in data collection, or those with aggressive behavioral disorders.
  • Non-compliance or Medical Restrictions: Individuals unable to comply with study procedures or with medical conditions that prevent biological sample collection.
  • Control Group: Healthy Individuals: Participants without ASD or any psychiatric or neurological disorders.
  • Age and Gender Matching: Matched with the ASD group in terms of age, gender, and socio-demographic status.
  • No History of Genetic or Neurodevelopmental Disorders: Individuals with no genetic syndromes, chromosomal anomalies, or neurodevelopmental disorders.
  • No Chronic Disease History: Participants with no history of chronic diseases such as cancer, autoimmune diseases, or metabolic conditions.
  • Informed Consent: Written informed consent from individuals over 18 years old or from parents/legal guardians for participants under 18.

结局指标

主要结局

Finalization of Clinical Data Recruitment

时间窗: Expected to complete within 24 months of study initiation.

The primary outcome will be the recruitment of individuals diagnosed with Autism Spectrum Disorder (ASD) and unaffected controls. Comprehensive clinical, sociodemographic, and phenotypic data will be collected, including diagnostic assessments using standardized tools (e.g., ADOS, SCQ).

次要结局

  • Collection and Completion of Genetic Raw Data (WGS and WGBS)(Expected to complete within 30 months of study initiation)
  • Integration of Genetic Data(Expected to complete within 60 months of study initiation.)

研究者

发起方
Research and Treatment Society of Genetic Disorders
申办方类型
Other
责任方
Sponsor

研究点 (20)

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