Defining Outcome Measures for Behavioural and Emotional Problems in Dystrophinopathies
Overview
- Phase
- N/A
- Intervention
- Not specified
- Conditions
- DMD
- Sponsor
- University College, London
- Enrollment
- 100
- Primary Endpoint
- Group differences between DMD, BMD and controls in the initial aversive unconditioned stimulus.
- Status
- Recruiting
- Last Updated
- last year
Overview
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.
Investigators
Eligibility Criteria
Inclusion Criteria
- •DMD patients:
- •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:
- •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
Exclusion Criteria
- •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
- •General exclusion criteria for MRI:
Outcomes
Primary Outcomes
Group differences between DMD, BMD and controls in the initial aversive unconditioned stimulus.
Time Frame: 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 Outcomes
- 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)