Natural History and Standards of Care in Duchenne Muscular Dystrophy - the U.K. NorthStar Clinical Network.
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 入组人数
- 300
- 试验地点
- 25
- 主要终点
- Longitudinal data on motor function in Duchenne Muscular Dystrophy (DMD) patients from the childhood to the adult phases of life
研究概览
简要总结
The goal of this natural history study is to capture the natural history of Duchenne Muscular Dystrophy (DMD) in children and adults in the United Kingdom. Children and adults with DMD will be invited to join.
The primary objective of the study is to collect longitudinal data on motor and respiratory function in DMD patients from childhood to adulthood.
The secondary objectives of the study include collection of longitudinal data on other aspects of natural history on DMD, including respiratory, cardiac and endocrine complications, neurodiversity (cognitive impairment, neuro-behavioural disorders such as ADHD and autism), changes to bone density and occurrence of fractures, changes to puberty, incidence of scoliosis, unplanned hospital admissions, and quality of life. The study will also collect information on ethnicity.
Participants will attend an annual or bi-annual neuromuscular clinic, and will have a series of assessments and questionnaires with the study team. These include: key medical data, physiotherapy data, respiratory assessments, Quality of Life questionnaires, and DMD questionnaires. Following assessments and questionnaire completion, data is input into the study's tailor-made National Neuromuscular Database.
详细描述
This study will make use of the existing NorthStar network to collect a wider range of clinically relevant data from paediatric and adult DMD patients, to describe more completely the natural history of the disease in different domains and across different life stages and disease phases. Data will be collected using assessment techniques and outcome measures appropriate to the major phases of the disease, and which are in some cases not currently part of the standard of care for DMD in the UK. The National Neuromuscular Database will continue to be used to collect and store these data. This study will allow the network to continue to describe the current natural history in DMD prospectively, with more robust subject ascertainment and completeness. This will help meet the current need for contemporary natural history data for the evaluation of new therapies, and further research in DMD.
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 99 Years（Child, Adult, Older Adult）
- 性别
- Male
- 接受健康志愿者
- 否
入选标准
- •All patients with genetically confirmed diagnosis of Duchenne Muscular Dystrophy in the United Kingdom. Recruitment will also be possible in cases in whom the DMD diagnosis is made after a muscle biopsy even if the dystrophin gene variant is still being investigated.
排除标准
- •Involvement in clinical trials is not an exclusion criterion nor having had surgical procedures, as this is an observational research study. The regular clinical data of patients in clinical trials will be acquired as part of the clinical follow up.
- •Patients based outside of the United Kingdom.
结局指标
主要结局
Longitudinal data on motor function in Duchenne Muscular Dystrophy (DMD) patients from the childhood to the adult phases of life
时间窗: From enrolment to the end of the study, across 18 months
Measure: NorthStar Ambulatory Assessment (NSAA). a scale from 0 (unable), 1 (completes independently but with modifications), and 2 (completed without compensation). Total score 0 - 34 with a higher score denoting a higher level of function.
次要结局
- Longitudinal data on quality of life in childhood and adult patients.(From enrolment to the end of the study, across 18 months)