BMD, DMD
Conditions
Keywords
Antisense oligonucleotide
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.
Interventions
BEHAVIORALClassical 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.
Sponsors
Sarepta Therapeutics, Inc.
University College, London
Study design
Observational model
COHORT
Time perspective
CROSS_SECTIONAL
Eligibility
Sex/Gender
MALE
Age
7 Years to 17 Years
Healthy volunteers
Yes
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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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
| Measure | Time frame | Description |
|---|---|---|
| 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. |
Countries
United Kingdom
Contacts
Primary ContactAnna Kolesnik, Dr
Backup ContactNatasha Aslam, MSc
Outcome results
None listed