Global Fukutin-Related Protein Registry
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 1,000
- 试验地点
- 1
- 主要终点
- Individualized Neuromuscular Quality of Life questionnaire (INQoL)
研究概览
简要总结
Mutations in the Fukutin Related Protein (FKRP) gene cause the condition Limb Girdle Muscular Dystrophy type R9 (LGMDR9) also known as LGMD2I, and the rarer conditions Congenital Muscular Dystrophy (MDC1C), Muscle Eye Brain Disease (MEB) and Walker-Warburg Syndrome (WWS). LGMDR9 is the most common FKRP-related condition, and is especially prevalent in Northern Europe.
The aim is to facilitate a questionnaire based research study in order to better characterise and understand the disease globally. By maintaining a global registry this will help identify potential participants eligible for clinical trials in the future.
详细描述
The Global FKRP Registry (https://www.fkrp-registry.org/) is an international registry for patients with an FKRP-related condition; no experimental intervention is involved. Patients will receive information on the most up to date standards of care relating to their disease and may be invited to participate in relevant clinical trials. Their data will be updated annually and stored indefinitely, or until they request their data to be removed.
The data will be collected via an online form and will be stored on a secure server based in the United Kingdom and looked after by the registry staff at Newcastle University. Data collected from patients will include demographic information, diagnosis, current condition, age of onset, medication, contractures, family history and results of genetic testing, if available. Other optional questionnaires will focus on patients' pain and quality of life. Further information collected from patients' doctors will include, heart and lung function, muscle strength, muscle and brain MRI findings and genetics.
The FKRP registry is funded by LGMD2i Research Fund and CureLGMD2i.
The primary objectives of the Global FKRP Registry are to:
- Accelerate and facilitate clinical trials by locating potential research subjects quickly and efficiently
- Facilitate in the planning of clinical trials
- Assist the neuromuscular community with the development of recommendations and standards of care
- Characterise and describe the FKRP population as a whole, enhancing the understanding of the prevalence throughout the world.
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •All patients with a confirmed diagnosis of an FKRP-related condition are eligible for inclusion. Diagnosis will be confirmed via genetic testing results.
排除标准
- •There is no exclusion criteria for registration with this patient registry.
结局指标
主要结局
Individualized Neuromuscular Quality of Life questionnaire (INQoL)
时间窗: 12 months
Patient-reported quality of life.
McGill Pain Questionnaire
时间窗: 12 months
Patient-reported current pain.
Patient questionnaire
时间窗: 12 months
Patient-reported FKRP clinical diagnosis, symptoms relating to muscle weakness, motor function and family history.
Clinician questionnaire
时间窗: 12 months
Doctor-reported clinical data, including respiratory and cardiac test results and genetic confirmation of FKRP mutation.
次要结局
未报告次要终点