Defining Outcome Measures for Behavioural and Emotional Problems in Dystrophinopathies
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 100
- 主要终点
- Group differences between DMD, BMD and controls in the initial aversive unconditioned stimulus.
研究概览
简要总结
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,
详细描述
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.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- 7 Years 至 17 Years（Child）
- 性别
- Male
- 接受健康志愿者
- 是
入选标准
- •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
- •Control participants:
- •Age range 7-17 years.
- •Ability to consent/assent
排除标准
- •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:
- •Claustrophobia
- •Pacemakers and defibrillators
- •Nerve stimulators
- •Intracranial clips
- •Intraorbital or intraocular metallic fragments
- •Cochlear implants
- •Ferromagnetic implants (e.g. thoracic implant for scoliosis)
- •Inability to lie supine during less than 45 minutes
- •Not having a general practitioner
- •Severe learning disability which will require a general anaesthetic
结局指标
主要结局
Group differences between DMD, BMD and controls in the initial aversive unconditioned stimulus.
时间窗: 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.
次要结局
- 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)