Defining Outcome Measures for Behavioural and Emotional Problems in Dystrophinopathies

NCT06581887 | Recruiting

• 2 other identifiers: 21/WM/0267302390
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief Summary

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,

Conditions

DMD; BMD

Keywords

Antisense oligonucleotide

Outcome Measures

Primary Outcomes (1)

• Group differences between DMD, BMD and controls in the initial aversive unconditioned stimulus.

  Following an emotional response task, an interim analysis will be done after the first 30 patients have been tested (10 DMD, 10 BMD, 10 controls). A favourable outcome will demonstrate a difference in the emotional response of these groups. Groups will complete questionnaires, an emotional response task, and a fine motor assessment.

  through study completion, an average of 2 years

Secondary Outcomes (1)

• To observe any difference between and within BMD, DMD and control groups in regard to learning, habituation and extinction

  through study completion, an average of 2 years

Study Arms (1)

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

Behavioral: Classical conditioning task

Interventions

Classical conditioning task 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.

Cohort

Eligibility Criteria

• Age: 7 Years - 17 Years
• Gender Eligibility Details: Male
• Healthy Volunteers: Yes
• Age Groups: Child (0-17)
• Sampling Method: Non-Probability Sample

Study Population

40 DMD, 30 BMD patients and 30 age-matched controls.

You may qualify if:

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

You may not qualify if:

• DMD \& BMD patients:
• Significant visual or hearing impairment
• Specific phobias or sensory sensitivities to stimuli similar to the ones used in this study
• Current participation in a clinical trial investigating a new drug involved in dystrophin modulation.
• 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:
• Significant visual or hearing impairment
• Specific phobias or sensory sensitivities to stimuli similar to the ones used in this study
• Any diagnosis of neurological or psychiatric condition
• Claustrophobia
• Pacemakers and defibrillators
• Nerve stimulators
• Intracranial clips
• Intraorbital or intraocular metallic fragments
• Cochlear implants

Sponsors & Collaborators

• University College, London: lead
• Sarepta Therapeutics, Inc.: collaborator

Study Sites (1)

UCL GOS Institute of Child Health

London, WC1N 1EH, United Kingdom

RECRUITING

Related Links

• Duchenne clinical trial listing
• Health Research Authority research summary

Study Officials

• Francesco Muntoni, Professor

  University College, London

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Anna Kolesnik, Dr

CONTACT

44 (0) 20 7905 2600; braindmd@ucl.ac.uk

Natasha Aslam, MSc

CONTACT

44 (0) 20 7905 2600; natasha.aslam@ucl.ac.uk

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: August 8, 2024
• First Posted: September 3, 2024
• Study Start: September 13, 2022
• Primary Completion: November 19, 2024
• Study Completion: December 31, 2024
• Last Updated: September 3, 2024

Record last verified: 2024-08

Data Sharing

• IPD Sharing: Will not share

Locations

GB (1)