International GNE Myopathy Patient Registry (GNE001)
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 430
- 试验地点
- 2
- 主要终点
- Medication use
研究概览
简要总结
GNE myopathy, an ultra-rare disease, is a severe progressive myopathy that typically presents in early adulthood as weakness in the distal muscles of the lower extremities and progresses proximally, leading to a loss of muscle strength and function, and ultimately a wheelchair-bound state. The rate of progression is gradual and variable over the course of 10-20 years or longer.
There is a need to understand the world wide epidemiology of this ultra-rare condition, better understand a long-term disease course and the progression of disease-specific features, support translational research by evaluating burden illness and support clinical research recruitment. Therefore, the study will longitudinally collect information via an online patient registry platform.
详细描述
GNE myopathy is an ultra- rare condition. Most of the knowledge is coming from case reports or small cohort observations. There is a need to more precisely understand the long-term disease course and the progression of disease-specific features of GNE myopathy, and in turn characterise the overall burden of this illness. Also, to better understand the disease, describe it variability, genotype-phenotype correlation, quality of life, epidemiology, health-economics aspects and need for assistive walking devices. Collected data needs to be harmonised to be compatible collaborative work with Remudy (Japanese patient registry). This collaborative effort will enable the analysis of the largest GNE myopathy data set in the world. To this end, this study will collect patient information longitudinally. Upon patient's agreement, the registry curator can contact nominated clinicians to request additional data or data validation.
Study Objectives
The objectives of the study are to:
- Longitudinally characterize disease-specific features of GNE myopathy
- Characterize the burden of illness and quality of life in patients with GNE myopathy
- Support recruitment in research activities
- Inform registry participants via newsletters about scientific developments in the GNE myopathy field
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
- 18 Years 至 —（Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Aged 18 years or older at the time of informed consent
- •Clinical and/or genetic diagnosis of GNE myopathy (also known as HIBM, QSM, Inclusion Body Myopathy Type 2, DMRV, or Nonaka disease)
- •Willing and able to provided electronic (or written) consent and comply with all study requirements.
排除标准
- •Under 18 years of age
研究组 & 干预措施
Participants with GNE
干预措施: Patient Registry (Other)
结局指标
主要结局
Medication use
时间窗: 12 months
Patient reported medical use.
Level of physical activity
时间窗: 12 months
Patient reported level of physical activity
Disease history
时间窗: 12 months
Patient reported disease history including GNE myopathy diagnosis.
General medical history
时间窗: 12 months
Patient reported general medical history.
Quality of life questionnaire (non-validated)
时间窗: 12 months
Patient reported quality of life
Muscle biopsy and genetic testing status
时间窗: 12 months
Patient reported history of muscle biopsy and details of whether they have undergone genetic testing for GNE myopathy
次要结局
未报告次要终点