Social Cognition in Dystrophinopathies and Neurodevelopmental Disorders

NCT ID: NCT06874166

Last Updated: 2025-03-13

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

NOT_YET_RECRUITING

Total Enrollment

45 participants

Study Classification

OBSERVATIONAL

Study Start Date

2025-09-30

Study Completion Date

2027-12-31

Brief Summary

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The primary aim of this observational study is to investigate specific aspects of social cognition in dystrophinopathies. Body awareness, interpersonal distance and emotional processing will be measured in a sample of patients affected by Becker (BMD) and Duchenne (DMD) muscular dystrophy, compared with a sample of patients affected by osteogenesis imperfecta (OI), and both compared with a control sample with typical development.

The secondary aim is to study cortical activity at rest, by means of electroencephalography (EEG), to explore frequencies and time course of EEG responses. Moreover, the relationship between EEG activity and neuropsychological, dispositional and subjective measures will be explored through correlational analyses.

Detailed Description

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Study procedure includes: 1. Eligibility assessment according to inclusion and exclusion criteria. 2. Administration of questionnaires and scales for the characterization of cognitive and psychological features related with BMD/DMD and OI : Wechsler Intelligence Scale for Children 4th Edition (WISC-IV), Raven's Progressive Matrices; NEPSY-II; The Child Behavior Checklist (CBCL); PedsQL; Toronto Alexithymia Scale (TAS-20); Emotion Regulation Questionnaire (ERQ); Emotion Regulation Questionnaire for Children and Adolescents (ERQ-CA); Multidimensional Assessment of Interoceptive Awareness (MAIA); Body Shape Questionnaire (BSQ-14); and the Autism Spectrum Quotient (AQ, adult or child version) 3. Administration of experimental tasks. The Comfort-Distance Task (CDT) to measure the interpersonal comfort distance, the task will be implemented in immersive virtual reality by means of head-mounted displays (OCULUS ©2024 Meta). Interoceptive accuracy will be measured through a modified version of the heartbeat counting task. An emotional priming task will be administered in order to measure emotion processing, participants will be asked to detect trial by trial the target emotion which could be preceded by a congruent or incongruent visual priming.

All the tasks will be performed in a counterbalanced order, for an overall duration of about 40 minutes.

4\. Recording of resting state EEG will be collected.

Conditions

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Duchenne / Becker Muscular Dystrophy Osteogenesis Imperfecta (OI) Social Cognition

Study Design

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Observational Model Type

CASE_CONTROL

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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BMD/DMD group

Patients diagnosed with Duchenne and Becker muscular dystrophy (genetic and histological diagnosis and clinical diagnosis) (ambulant and non-ambulant), over the age of four.

Electroencephalography (EEG)

Intervention Type OTHER

Recording of resting state EEG will be collected

Social Cognition Tasks

Intervention Type OTHER

Comfort-Distance Task: it will be used to measure the interpersonal comfort distance, the task will be implemented in immersive virtual reality environment Interoception will be measured through an auditory match task based on participants heart-beat A measure emotion processing will be collected through the emotion priming visual task, participants will be asked to detect trial by trial the target emotion which could be preceded by a congruent or incongruent visual priming

OI group

Patients diagnosed with osteogenesis imperfecta, over the age of four.

Electroencephalography (EEG)

Intervention Type OTHER

Recording of resting state EEG will be collected

Social Cognition Tasks

Intervention Type OTHER

Comfort-Distance Task: it will be used to measure the interpersonal comfort distance, the task will be implemented in immersive virtual reality environment Interoception will be measured through an auditory match task based on participants heart-beat A measure emotion processing will be collected through the emotion priming visual task, participants will be asked to detect trial by trial the target emotion which could be preceded by a congruent or incongruent visual priming

Control group

Participants without any neurological or psychiatric disorder, over the age of four.

Electroencephalography (EEG)

Intervention Type OTHER

Recording of resting state EEG will be collected

Social Cognition Tasks

Intervention Type OTHER

Comfort-Distance Task: it will be used to measure the interpersonal comfort distance, the task will be implemented in immersive virtual reality environment Interoception will be measured through an auditory match task based on participants heart-beat A measure emotion processing will be collected through the emotion priming visual task, participants will be asked to detect trial by trial the target emotion which could be preceded by a congruent or incongruent visual priming

Interventions

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Electroencephalography (EEG)

Recording of resting state EEG will be collected

Intervention Type OTHER

Social Cognition Tasks

Comfort-Distance Task: it will be used to measure the interpersonal comfort distance, the task will be implemented in immersive virtual reality environment Interoception will be measured through an auditory match task based on participants heart-beat A measure emotion processing will be collected through the emotion priming visual task, participants will be asked to detect trial by trial the target emotion which could be preceded by a congruent or incongruent visual priming

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* Patients diagnosed with Duchenne and Becker muscular dystrophy (genetic and histological diagnosis and clinical diagnosis) (ambulant and non-ambulant).
* Patients diagnosed with osteogenesis imperfecta.
* Control group: participants without any neurological or psychiatric disorder

Exclusion Criteria

* presence of comorbid diagnoses,
* sensory deficit
* specific condition that could prevent the application of the tests and tasks under study, such as: a) the need for PEG; b) the need for tracheostomy; c) the need for assisted ventilation.
* cognitive level lower than 60.
Minimum Eligible Age

4 Years

Eligible Sex

MALE

Accepts Healthy Volunteers

Yes

Sponsors

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IRCCS Eugenio Medea

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Central Contacts

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Valentina Nicolardi, PhD

Role: CONTACT

0039 + 3200598331

Other Identifiers

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L2-227

Identifier Type: -

Identifier Source: org_study_id

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