Defining Outcome Measures for Behavioural and Emotional Problems in Dystrophinopathies

University College, London100 enrolled

Overview

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,

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 Type

OBSERVATIONAL

Enrollment

100

Conditions

DMD BMD

Interventions

Classical conditioning taskBEHAVIORAL

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.

Eligibility

Sex: MALEMin age: 7 YearsMax age: 17 YearsHealthy volunteers:

Medical Language ↔ Plain English

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

Locations (1)

UCL GOS Institute of Child Health

London, United Kingdom

RECRUITING

Outcomes

Primary Outcomes

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.

Time frame: through study completion, an average of 2 years

Secondary Outcomes

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

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.

Time frame: through study completion, an average of 2 years

Central 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

Data from ClinicalTrials.gov

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