Duchenne / Becker Muscular DystrophyNCT06874166
Social Cognition in Dystrophinopathies and Neurodevelopmental Disorders
An observational study of Duchenne / Becker Muscular Dystrophy and Osteogenesis Imperfecta (OI), run by IRCCS Eugenio Medea.
Trial summary
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… Read more about this study
- Who is it for?
- Ages 4 years and older, men onlyHealthy volunteers can take part
- Conditions the study is for
- Duchenne / Becker Muscular Dystrophy, Osteogenesis Imperfecta (OI), Social Cognition
- What is being tested?
- Electroencephalography (EEG) and Social Cognition Tasks
- How many people
- 45 participants
- Where
- No sites listed yet
- Study dates
- Sep 2025to Dec 2027
- Phase
- Observational
- 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 4 years and older
- Men only
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: For the statistical power analysis the size of the effect reported in Candini et al., 2017 (η2p = 0.28) has been considered, about the effect of diagnostic features on the peripersonal space, and the effect reported by Garcia et al., 2023 (η2p = 0.20) about the differences between DMD/BMD patients and neurotypicals in social cognition. The calculation, performed separately for the two different effects, returns a sample size between 17 and 23 minimum patients per group.
Who may be able to join
- 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
Who cannot join
- 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.
Trial locations and contacts
No sites are listed yet. Contact the study team or a site near you to ask about taking part.
About this study
Official title: Social Cognition in Dystrophinopathies and Neurodevelopmental Disorders. Behavioural and Psychophisiological Measures
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.
Read the detailed description
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.
- Recording of resting state EEG will be collected.
- Being tested
- Electroencephalography (EEG), Social Cognition Tasks
- Keywords
- Social Cognition, Duchenne / Becker muscular dystrophy, Osteogenesis Imperfecta (OI), EEG, Interpersonal distance, Interoception
- Medical subject headings
- Muscular Dystrophy, Duchenne, Osteogenesis Imperfecta
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Electroencephalography (EEG)Other
Recording of resting state EEG will be collected
Social Cognition TasksOther
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
| Study group | Role | What they receive |
|---|---|---|
| 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. Receives: Other: Electroencephalography (EEG); Other: Social Cognition Tasks | |
| OI group | Patients diagnosed with osteogenesis imperfecta, over the age of four. Receives: Other: Electroencephalography (EEG); Other: Social Cognition Tasks | |
| Control group | Participants without any neurological or psychiatric disorder, over the age of four. Receives: Other: Electroencephalography (EEG); Other: Social Cognition Tasks |
What is being measured
The primary outcome is the main question the study is designed to answer.
Interoception
interoceptive index
Measured: Day 1
Interpersonal distance
Interpersonal comfort distance, measured in meters (m) within the virtual environment
Measured: Day 1
Emotional processing
Visual priming task performance
Measured: Day 1
EEG power
EEG alpha power
Measured: once
EEG power
EEG beta power
Measured: Day 1
EEG power
EEG theta power
Measured: Day 1
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted13 Mar 2025
- Study startSep 2025 (estimated)
- Primary completionSep 2027 (estimated)
- Study completionDec 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Duchenne / Becker Muscular DystrophyStudies of the same condition, open and under way.
- More trials run by IRCCS Eugenio MedeaThe 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
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 45 participants (estimated)
Sponsor and investigators
- Lead sponsor
- IRCCS Eugenio Medea
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06874166
- Sponsor's protocol ID
- L2-227
- Status last verified
- Mar 2025
- First submitted
- 17 Feb 2025
- Last updated
- 13 Mar 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 13 Mar 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Social Cognition in Dystrophinopathies and Neurodevelopmental Disorders. Behavioural and Psychophisiological Measures
- ClinicalTrials.gov ID
- NCT06874166
- Acronym / sponsor ID
- L2-227
- Keywords
- Social Cognition, Duchenne / Becker muscular dystrophy, Osteogenesis Imperfecta (OI), EEG, Interpersonal distance, Interoception
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 45 participants (estimated)
- Lead sponsor
- IRCCS Eugenio MedeaUniversity, hospital or other
- Study start
- Sep 2025 (estimated)
- Primary completion
- Sep 2027 (estimated)
- Study completion
- Dec 2027 (estimated)
- First posted
- 13 Mar 2025 (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.
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
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.
- Recording of resting state EEG will be collected.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| BMD/DMD group | – | Other: Electroencephalography (EEG), Other: Social Cognition TasksPatients diagnosed with Duchenne and Becker muscular dystrophy (genetic and histological diagnosis and clinical diagnosis) (ambulant and non-ambulant), over the age of four. |
| OI group | – | Other: Electroencephalography (EEG), Other: Social Cognition TasksPatients diagnosed with osteogenesis imperfecta, over the age of four. |
| Control group | – | Other: Electroencephalography (EEG), Other: Social Cognition TasksParticipants without any neurological or psychiatric disorder, over the age of four. |
Who may qualify
- Ages
- 4 years and older
- Sex
- Male only
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- For the statistical power analysis the size of the effect reported in Candini et al., 2017 (η2p = 0.28) has been considered, about the effect of diagnostic features on the peripersonal space, and the effect reported by Garcia et al., 2023 (η2p = 0.20) about the differences between DMD/BMD patients and neurotypicals in social cognition. The calculation, performed separately for the two different effects, returns a sample size between 17 and 23 minimum patients per group.
Key inclusion criteria (3 listed)
- 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
Key exclusion criteria (4 listed)
- 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.
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 |
|---|---|---|
| Electroencephalography (EEG)Recording of resting state EEG will be collected | Other | BMD/DMD group, Control group, OI group |
| Social Cognition TasksComfort-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 | Other | BMD/DMD group, Control group, OI group |
Primary outcome
Interoception
Time frame: Day 1
interoceptive index
Interpersonal distance
Time frame: Day 1
Interpersonal comfort distance, measured in meters (m) within the virtual environment
Emotional processing
Time frame: Day 1
Visual priming task performance
EEG power
Time frame: once
EEG alpha power
EEG power
Time frame: Day 1
EEG beta power
EEG power
Time frame: Day 1
EEG theta power
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 13 Mar 2025.
- Individual participant dataSharing planned: Undecided
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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.
Questions about this trial
What is this clinical trial studying?
An observational study of Duchenne / Becker Muscular Dystrophy and Osteogenesis Imperfecta (OI), run by IRCCS Eugenio Medea.
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: opening soon, as of the sponsor's last update on 13 Mar 2025. Status can change between updates, so confirm with the study contact before making plans.
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 Valentina Nicolardi, PhD (0039 + 3200598331, valentina.nicolardi@lanostrafamiglia.it), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Interoception (time frame: Day 1). The study lists 6 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 13 Mar 2025.