Decoding Central Defects in Dystrophinopathies From Diagnostic to Remediation
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 110
- 试验地点
- 1
- 主要终点
- Nature and severity of sensory and neuropsychological disturbances
研究概览
简要总结
The study aims to identify a genotype/phenotype correlation by analyzing more finely the neurodevelopmental disorders in DMD patients.
详细描述
We propose a unique longitudinal study in which DMD children aged 5-12 years old will first be engaged in a deep evaluation of a range of cognitive, behavioral, physiological and neural functions (identification of biomarkers based on ERG) and an eligible subgroup of patients will then enter a second study phase (last 2 years) aimed at developing targeted cognitive remediation strategies:
- Deep evaluation with research of correlation between DMD patients' genotype and neurological/neuropsychological phenotype: - the nature and severity of the cognitive/executive/behavioral deficits, - the retinal/visual alterations, - functional brain imaging.
- Targeted cognitive remediation strategies in the same patients, to alleviate the identified neuropsychological and behavioral disturbances. We will place a particular focus on the socio-cognitive and executive weaknesse.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 年龄范围
- 5 Years 至 12 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •French citizenship, affiliated to the French Social Security,
- •5 to 12 years old,
- •DMD diagnosis confirmed by a genetic analysis predicting breaking in the reading frame of the DMD gene with knowledge of the limits of the mutation,
- •Follow-up in a French referral or a skills center belonging to Filnemus.
排除标准
- •Severe intellectual deficiency with IQ < 55, and IQ < 70 for the deep neurocognitive evaluation (executive and socio-cognitive evaluation),
- •Cataract except if operated (pseudophakic),
- •High intraocular pressure,
- •Cardiac dysfunction with left ventricular ejection fraction < 35%,
- •Respiratory dysfunction with force vital capacity < 70%,
- •Difficulties in fine motor skills with D3 MFM scale < 75%
- •Treatment with methylphenidate: In case of hyperactive patients, the treatment will be transitorily interrupted the week before testing.
结局指标
主要结局
Nature and severity of sensory and neuropsychological disturbances
时间窗: 12 Months
Specify the nature and severity of sensory and neuropsychological disturbances (cognitive, executive, emotional, behavioral and neuropsychiatric) according to the patient's genotype.
次要结局
- Correlations between sensory and neuropsychological measures(24 Months)
- Correlation between neuropsychological and functional imaging parameters(24 Months)
- Correlation between sensory and functional imaging parameters(24 Months)