Defining Outcome Measures for Behavioural and Emotional Problems in Dystrophinopathies

Recruiting

• Conditions: DMD; BMD

• Registration Number: NCT06581887
• Lead Sponsor: University College, London

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,

Detailed Description

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.

Study Timeline

• Study Start: 2022-09-13
• Status Verified: 2024-08
• Study First Submitted: 2024-08-08
• Study First Submitted QC: 2024-08-29
• Last Update Submitted: 2024-08-29
• Study First Posted: 2024-09-03
• Last Update Posted: 2024-09-03
• Primary Completion: 2024-11-19
• Study Completion: 2024-12-31

Recruitment & Eligibility

• Status: RECRUITING
• Sex: Male
• Target Recruitment: 100

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

General exclusion criteria for MRI:

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

Study & Design

• Study Type: OBSERVATIONAL
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Group differences between DMD, BMD and controls in the initial aversive unconditioned stimulus.	through study completion, an average of 2 years	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.

Secondary Outcome Measures

Name	Time	Method
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	This will be measured by analysis measuring any difference between and within groups (10 BMD, 10 DMD and 10 control). Physiological responses generated by the task will be measured, along with neural imaging.