Myotubular and Centronuclear Myopathy Patient Registry
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 发起方
- 入组人数
- 500
- 试验地点
- 1
- 主要终点
- Patient questionnaire
研究概览
简要总结
The Myotubular and Centronuclear Myopathy Patient Registry (also referred to as the 'MTM and CNM Registry') is an international, patient-reported database specific to these conditions.
More details and online registration are available at www.mtmcnmregistry.org.
详细描述
The Myotubular and Centronuclear Myopathy (MTM & CNM) Patient Registry is managed and operated by the John Walton Muscular Dystrophy Research Centre at Newcastle University, in partnership with the Myotubular Trust, and is part of the TREAT-NMD Neuromuscular Network. The registry has been developed in partnership with a number of leading neuromuscular researchers, and is jointly funded by the Myotubular Trust, Muscular Dystrophy UK and Astellas Gene Therapies.
Participants register online and must provide consent before accessing the registry questionnaire. The clinical data and genetic or biopsy reports are provided by the participants and their doctors.
The MTM & CNM Registry aims to:
- Help identify patients for relevant clinical trials as they become available.
- Encourage further research into myotubular and centronuclear myopathy.
- Provide researchers with specific patient information to support their research.
- Assist doctors and other health professionals by providing them with up-to-date information on managing myotubular and centronuclear myopathy, to help them deliver better standards of care for their patients.
The investigators welcome the registration of:
研究设计
- 研究类型
- Observational
- 观察模型
- Case Only
- 时间视角
- Prospective
入排标准
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Patients with a myotubular myopathy or centronuclear myopathy diagnosis, which has been confirmed via genetic testing or muscle biopsy.
- •Any carrier females of x-linked myotubular myopathy, especially if they have manifested myotubular myopathy type symptoms.
- •Any patient who is deceased, but who had a confirmed diagnosis.
排除标准
- 未提供
结局指标
主要结局
Patient questionnaire
时间窗: 12 months
Patient reported clinical diagnosis, genetic mutation, motor function, wheelchair use, respiratory function, ventilation type, chest infection, feeding and heart function, neuromuscular examinations, scoliosis surgery, family history and other registries joined. No scales are collected. Patient genetic report and muscle biopsy report are also uploaded to the registry if available, with details of clinician and where the tests were conducted.
次要结局
未报告次要终点
研究者
Chiara Marini Bettolo
Professor Neurologist and Clinical Lead, John Walton Muscular Dystrophy Research Centre. Clinical Lead of the Highly Specialised Service for Rare Neuromuscular Diseases, and Honorary Clinical Research Associate at Newcastle University
Newcastle-upon-Tyne Hospitals NHS Trust