Defining Outcome Measures for Behavioural and Emotional Problems in Dystrophinopathies

NCT ID: NCT06581887

Last Updated: 2024-09-03

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

RECRUITING

Total Enrollment

100 participants

Study Classification

OBSERVATIONAL

Study Start Date

2022-09-13

Study Completion Date

2024-12-31

Brief Summary

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Study aims to develop and to evaluate the neurophysiological and physiological response to a classical conditioning task.To better understand how Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD) impacts mental health and how to assess it. Participants invited to complete questionnaires about behaviour, cognitive function and social interactions, complete computer tasks and have an optional MRI brain scan,

Detailed Description

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The investigation aims to develop and to evaluate the neurophysiological and physiological response to a classical conditioning task, which is comparable to findings that have been made in the mdx dystrophic mouse (deficient in Dp427). The investigators will assess correlations between the specific DMD/BMD genotype and susceptibility to conditioning, as well as the relationship between conditioning and behavioural/emotional characteristics of the syndrome. At the end of the study, the objective is to deliver a comprehensive test battery that is suitable for use in a trial of AON delivery to improve brain function.

Conditions

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DMD BMD

Study Design

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Observational Model Type

COHORT

Study Time Perspective

CROSS_SECTIONAL

Study Groups

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Cohort

* Social Responsiveness Scale (SRS - II)
* ADHD Rating scale (5th edition) (ADHD - RS V)
* Child Behaviour Checklist (CBCL)
* Revised Children's Anxiety and Depression Scale (RCADS-P)
* Behaviour Rating Inventory of Executive Function (BRIEF - P)
* Wechsler Intelligence test for children version V (WISC-V)
* Autism Diagnostic Observation Schedule (ADOS)
* Behavioural Assessment of the Dysexecutive Syndrome for Children (BADS-C)
* Psychophysiological task: A task previously used to measure the emotional response of patients through the usage of visual and auditory aversive stimuli. The emotional response will be measured through skin conductance, heartrate, pupil responses.
* Purdue Pegboard
* A subset of patients will be also asked to undergo an MRI brain scan

Classical conditioning task

Intervention Type BEHAVIORAL

To evaluate the neurophysiological and physiological response to a classical conditioning task, which is comparable to findings that have been made in the mdx dystrophic mouse (deficient in Dp427). The investigators will assess correlations between the specific DMD/BMD genotype and susceptibility to conditioning, as well as the relationship between conditioning and behavioural/emotional characteristics of the syndrome.

Interventions

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Classical conditioning task

To evaluate the neurophysiological and physiological response to a classical conditioning task, which is comparable to findings that have been made in the mdx dystrophic mouse (deficient in Dp427). The investigators will assess correlations between the specific DMD/BMD genotype and susceptibility to conditioning, as well as the relationship between conditioning and behavioural/emotional characteristics of the syndrome.

Intervention Type BEHAVIORAL

Eligibility Criteria

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Inclusion Criteria

* DMD patients:

1. Male
2. Age range 7-17 years
3. A genetically proven diagnosis of DMD.
4. A genetic mutation that abrogates expression of Dp427 alone (assigned in DMD Group 1: Dp427-/Dp140+) or both Dp427 and Dp140 (assigned to DMD Group 2: Dp427-/Dp140-).
5. Ability to consent/assent

BMD patients:

1. Male
2. Age range 7-17 years
3. A genetically proven diagnosis of BMD.
4. A genetic mutation that decreases expression of Dp427 alone (assigned to BMD Group 1), of both Dp427 and Dp140 (assigned to BMD Group 2).
5. Ability to consent/assent

Control participants:

1. Male
2. Age range 7-17 years.
3. Ability to consent/assent

Exclusion Criteria

* DMD \& BMD patients:

1. Significant visual or hearing impairment
2. Specific phobias or sensory sensitivities to stimuli similar to the ones used in this study
3. Current participation in a clinical trial investigating a new drug involved in dystrophin modulation.
4. Inability to consent (for parents/guardians or self-reporting participants aged 16 and 17) or assent. This will exclude the rare individuals with extremely severe learning disability, as the assent in these patients is impossible (or the consent in self-reporting participants aged 16 and 17).

Control participants:

1. Significant visual or hearing impairment
2. Specific phobias or sensory sensitivities to stimuli similar to the ones used in this study
3. Any diagnosis of neurological or psychiatric condition


1. Claustrophobia
2. Pacemakers and defibrillators
3. Nerve stimulators
4. Intracranial clips
5. Intraorbital or intraocular metallic fragments
6. Cochlear implants
7. Ferromagnetic implants (e.g. thoracic implant for scoliosis)
8. Inability to lie supine during less than 45 minutes
9. Not having a general practitioner
10. Severe learning disability which will require a general anaesthetic
Minimum Eligible Age

7 Years

Maximum Eligible Age

17 Years

Eligible Sex

MALE

Accepts Healthy Volunteers

Yes

Sponsors

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Sarepta Therapeutics, Inc.

INDUSTRY

Sponsor Role collaborator

University College, London

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Francesco Muntoni, Professor

Role: PRINCIPAL_INVESTIGATOR

University College, London

Locations

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UCL GOS Institute of Child Health

London, , United Kingdom

Site Status RECRUITING

Countries

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United Kingdom

Central Contacts

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Anna Kolesnik, Dr

Role: CONTACT

44 (0) 20 7905 2600

Natasha Aslam, MSc

Role: CONTACT

44 (0) 20 7905 2600

Facility Contacts

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Anna Kolesnik, PhD

Role: primary

Natasha Aslam, MSc

Role: backup

Francesco Muntoni, Professor

Role: backup

David Skuse, Professor

Role: backup

Related Links

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Other Identifiers

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302390

Identifier Type: OTHER

Identifier Source: secondary_id

21/WM/0267

Identifier Type: -

Identifier Source: org_study_id

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