Swiss Registry for Neuromuscular Disorders (Swiss-Reg-NMD)
试验速览
- 阶段
- 不适用
- 状态
- 招募中
- 入组人数
- 2,000
- 试验地点
- 19
- 主要终点
- Initial symptoms
研究概览
简要总结
The Swiss Patient Registry for DMD/BMD and SMA was launched in 2008 in order to give Swiss patients access to new therapies. It was founded with the financial support of several patient organizations and research foundations. Since 2008, children, adolescents and adults with DMD, BMD and SMA are registered with the help of all major muscle centers in Switzerland. After nearly ten years of activity, the Swiss Patient Registry for DMD/BMD and SMA implemented several adaptations in 2018 to meet current and future expectations of patient's organizations, health authorities and research organizations.
详细描述
Background:
The 'Swiss registry for neuromuscular disorders' (Swiss-Reg-NMD) collects medical information from people with neuromuscular disorders. It is led by specialized physicians from all over Switzerland and located at the Institute of Social and Preventive Medicine (ISPM) in Bern. The registry includes children and adults living or treated in Switzerland who are diagnosed with Duchenne-Becker Muscular Dystrophy (DMD/BMD), Spinal Muscular Atrophy (SMA), merosin-deficient muscular dystrophy also called LAMA2-related muscular dystrophy (MDC1A respectively LAMA2) ) and Collagen 6 related muscular dystrophy.
The Swiss Registry for neuromuscular disorders was initially founded in 2008 to give Swiss patients with a neuromuscular disease access to new therapies. In 2018, the registry was reorganized to meet new legal requirements and expectations of patients and research organizations. The Swiss Ethics Commission approved the project (project ID: 2018-00289, observational study, risk category A).
NMDs are rare diseases with few patients scattered across the country. A national patient registry with a centralized registration facilitates the participation of Swiss patients in therapeutic trials and the creation of Swiss trial sites.
Objectives:
研究设计
- 研究类型
- Observational
- 观察模型
- Cohort
- 时间视角
- Other
入排标准
- 年龄范围
- 0 Years 至 —（Child, Adult, Older Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •Children, adolescents and adults diagnosed with a NMD
- •Who are living or treated for a NMD in Switzerland, and
- •Who gave informed consent
排除标准
- •None if diagnosis is confirmed, whenever possible, by genetic testing, or at least by biopsy and/or electroneuromyography, according to international standards for the diagnosis of the given NMD.
研究组 & 干预措施
Patient population
Children, adolescents and adults diagnosed with a NMD (DMD/BMD/IMD; SMA; COL-6; LAMA-2) who are treated or living in Switzerland.
结局指标
主要结局
Initial symptoms
时间窗: At diagnosis
Initial symptoms
Personal data
时间窗: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering and updating patients personal data
Age at initial symptoms and diagnosis
时间窗: At diagnosis
Age at initial symptoms and diagnosis
Family history
时间窗: At diagnosis
Other affected family members
Investigations
时间窗: At diagnosis
Type of investigations for diagnosis
Change of living status
时间窗: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Date of death
Change in head circumference
时间窗: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering head circumference
Diagnosis
时间窗: At diagnosis
Mutation
Change of living status II
时间窗: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Cause of death
Change in height
时间窗: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering height
Change in pulmonary function
时间窗: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering pulmonary function
History of hospitalizations
时间窗: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering hospitalizations
Change in disease specific markers
时间窗: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering change in disease specific markers
Change in cardiac function
时间窗: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering cardiac function
Change in nutritional habits
时间窗: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering feeding habits
Change in education
时间窗: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering type of education
Change in therapies
时间窗: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering therapies
History of participation in clinical trials and research studies
时间窗: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering participation in current/past clinical trials and research studies
Change in side effects
时间窗: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering side effects of treatments
Change in epilepsy
时间窗: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering epilepsy
Questionnaire data
时间窗: 0-80 years
Questionnaires focusing on specific research questions (Health-related questions, health behavior, medical equipment, treatments and therapies, quality of life, participation, social-economic factors, academic information, patient/caregiver reported outcomes, needs, concerns)
Change in weight
时间窗: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering weight
Change in musculoskeletal system
时间窗: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Assessing change in musculoskeletal system over time
Change in orthopaedic situation
时间窗: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Assessing use of orthopaedic resources
Change in treatments
时间窗: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering treatments
Change in comorbidities
时间窗: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering comorbidities
Change in motor development and motor functions
时间窗: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering motor development and function (motor function scales)
History of surgeries
时间窗: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Registering surgeries
Change in cognition
时间窗: Baseline medical information, follow-up data collection at regular intervals (at diagnosis, then at least annually, up to 80 years)
Assessing mental ability using tests, including language
次要结局
未报告次要终点