Facioscapulohumeral Dystrophy in Children: a Prospective, Observational Study on the Natural History, Predictors and Clinical Impact (iFocus)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 发起方
- 入组人数
- 32
- 试验地点
- 1
- 主要终点
- Motor Function Measure
研究概览
简要总结
This study will focus on the symptoms, natural history and clinical impact of facioscapulohumeral muscular dystrophy (FSHD) in children.
Symptoms of classical FSHD start in adulthood. However, a small subgroup of FSHD patients have an early, childhood onset. This early onset is associated with faster progression and other symptoms like hearing loss and epilepsy.
The symptoms, natural history and clinical impact of FSHD in children are largely unknown.
The results of this study will be vital for adequate symptomatic management and trial-readiness.
详细描述
FSHD is a hereditary muscle disease with slowly progressive muscle weakness. In children it is a very heterogenic disease ranging from severely affected infants to mildly affected adolescents. Symptoms can include muscle weakness, pain, fatigue, epilepsy, hearing loss, vision loss, mental retardation and spinal deformities. The prevalence of these symptoms and the adequate follow-up of these symptoms is unknown. Moreover the clinical impact and social functioning of children with FSHD is under exposed.
Therefore this study will focus on the total spectrum of FSHD in children.
In addition, an extensive genetic screening will be conducted, searching for (epi)genetic disease modifiers and severity predictors.
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
- — 至 17 Years（Child）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •aged 0-17 years
- •symptoms of facial, scapulohumeral or peroneal weakness
- •genetically proven FSHD1 or FSHD2
- •living in the Netherlands
排除标准
- •no informed consent
结局指标
主要结局
Motor Function Measure
时间窗: 2 years
Global motor functioning
次要结局
- ICH Body functioning: 6 Minute Walk test(2 years)
- ICH Body functioning: visual acuity(2 years)
- ICH Body functioning: hearing(2 years)
- ICH Body functioning: Pain(2 years)
- ICH Body functioning: respiratory functioning(2 years)
- ICH Body functioning: Manual Muscle Testing(2 years)
- ICH Body functioning: Denver II developmental screening test(2 years)
- ICH Body functioning: muscle functions(2 years)
- ICH Body functioning: mental functioning(2 years)
- ICH Body structure: muscle ultrasonography(2 years)
- ICF: Activities and participation: SEV(2 years)
- (Epi)genetic disease-modifying factors(2 years)
- ICH Body functioning: cardiac functioning(2 years)
- ICH Body structure: eye structure(2 years)
- ICH Body functioning: ingestion functions(2 years)
- ICF: Activities and participation: Kidscreen(2 years)
- ICF: Activities and participation: NeuroQol(2 years)
- Prevalance estimation(2 years)
研究者
RJM Goselink
Prof. dr. Baziel van Engelen
University Medical Center Nijmegen