Using biomarkers to improve autism diagnosis

Mind the Gap: a Bridge Between Research and Clinic for the Prevention and Diagnosis of Autism Spectrum Disorders

This study is testing if using biological markers along with behavior assessments can help doctors diagnose autism more accurately and quickly, which could lead to better treatments for children with autism.

Quick facts

• Study type: Observational
• Enrollment: 28 (estimated)
• Ages: 4 Years to 17 Years
• Sex: All
• Sponsor: IRCCS Centro Neurolesi Bonino Pulejo (other)
• Locations: 1 site (Messina)
• Trial ID: NCT05796310 on ClinicalTrials.gov

What this trial studies

This project aims to enhance the diagnostic efficiency of Autism Spectrum Disorder (ASD) by integrating various biological and clinical data. It will utilize behavioral assessments, eye tracking, and transcriptomic analysis to identify a set of biomarkers that can differentiate autistic individuals from their typically developing peers. The study seeks to stratify autistic patients into distinct subgroups based on their physiological characteristics, which could lead to more personalized treatment approaches. By focusing on early identification, the project hopes to facilitate timely interventions that can improve the quality of life for affected children and their families.

Who should consider this trial

Good fit: Ideal candidates include children aged 4 to 17 years diagnosed with Autism Spectrum Disorder, as well as their healthy siblings and typically developing peers.

Not a fit: Patients outside the age range of 4 to 17 years or those with significant ocular vision problems may not benefit from this study.

Why it matters

Potential benefit: If successful, this approach could lead to earlier and more accurate diagnoses of autism, enabling timely interventions that improve patient outcomes.

How similar studies have performed: While there have been advancements in autism diagnostics, this specific combination of biomarkers and methodologies is relatively novel and has not been extensively tested in previous studies.

Eligibility criteria

Autistic Spectrum Disorder patients, Inclusion Criteria:

* aged between 4 and 17years;
* Autism Spectrum Disorder diagnosed according to Diagnostic and Statistical Manual of Mental Disorders (DSM-5) criteria;
* healthy brothers/sisters, aged 4 to 17 years;
* adequate ocular vision, i.e. absence of objective eye problems such as double vision, cataracts, etc.;
* ability to maintain position in front of the monitor, i.e. knowing how to maintain or regain posture independently or with the help of postural aids;
* cognitive skills appropriate to the task such as being able to recognize images.

ASD siblings and Typical Developmental children, Inclusion Criteria

* aged between 4 and 17years;
* typical development, absence of known pathologies;
* adequate ocular vision, i.e. absence of objective eye problems such as double vision, cataracts, etc.;
* ability to maintain position in front of the monitor, i.e. knowing how to maintain or regain posture independently or with the help of postural aids;
* cognitive skills appropriate to the task such as being able to recognize images.

Autistic Spectrum Disorder patients, Exclusion Criteria:

* age not between 4 years and 17 years;
* difficulty in controlling ocular motility and visual hookup;
* unavailability of at least one sibling to participate in the diagnostic process;
* subjects with a syndromic phenotype or for which the presence of a known genetic syndrome has already been ascertained (e.g. Syndrome Rett, Xfra, Tuberous Sclerosis, etc.).

ASD siblings and Typical Developmental children, Exclusion Criteria:

* age not between 4 years and 17 years;
* subjects diagnosed with moderate/severe intellectual disability, or affected by known neurological pathologies (infantile cerebral palsy, epilepsy, sensory deficits) or with a history of preterm birth (≤32w) or underweight (≤10°ile for gestational age);
* subjects with a syndromic phenotype or for which the presence of a known genetic syndrome has already been ascertained (e.g. Syndrome Rett, Xfra, Tuberous Sclerosis, etc.);
* difficulty in controlling ocular motility and visual hookup;
* subjects suffering from neurodevelopmental disorders or family history for ASD for the control group.

Where this trial is running

Messina

• IRCCS Centro Neurolesi Bonino Pulejo — Messina, Italy (RECRUITING)

Study contacts

• Study coordinator: Francesca Cucinotta, MD, PhD

Conditions: Autism Spectrum Disorder, Autism, miRNA, Eye Tracker, biomarkers