Development and Implementation of a Transparent Registry Based on FAIR Principles for Duchenne and Becker Muscular Dystrophy (DBMD) Under the Auspices of the Society for Neuropediatrics (GNP) - FAIR-DMD
试验速览
- 阶段
- 不适用
- 状态
- 尚未招募
- 发起方
- 入组人数
- 1,500
- 试验地点
- 2
- 主要终点
- EQ-5D-5L
研究概览
简要总结
Duchenne muscular dystrophy (DMD) is an X-linked, recessive, progressive, and degenerative neuromuscular disorder that affects approximately one in 5,000 newborn boys. The established "standard of care" has improved prognosis; however, a causal therapy is not yet available. In 2024 and 2025, the first disease-modifying therapies were approved. These include Vamorolone (Agamree®) as a corticosteroid replacement with a more favorable side-effect profile for children aged four and older, and Givinostat (Duvyzat®) as a combination therapy with corticosteroids for ambulatory boys aged six and older. In this context, the FAIR-DMD Registry was initiated. The registry is based on the so-called FAIR principles. The acronym FAIR stands for the data principles Findable, Accessible, Interoperable and Reusable. The international FAIR principles are guidelines for the description, storage, and publication of scientific or administrative data. The FAIR-DMD registry is a disease-specific, academically managed registry for patients with Duchenne and Becker muscular dystrophy (DMD/BMD). Its goal is to systematically collect clinical data, scientifically monitor new disease-modifying therapies in routine care, and create an evidence-based foundation for the further development of diagnostics, therapy, and care structures. Furthermore, the registry collects data on patients' health related quality of live using an app for data entry. The FAIR-DMD Registry is being established under the auspices of the Society for Neuropediatrics (GNP) and operated in close coordination with Swiss Registry for Neuromuscular Disorders (Swiss-Reg-NMD). The GNP is a non-profit professional society that covers the entire spectrum of neuropediatric topics in clinical and cross-sector care. In the planned pilot phase, the GNP will act as trustee for financing. This model creates the opportunity to structurally address central challenges in health services research and establish a high-quality, internationally compatible registry structure. In the long term, the FAIR-DMD Registry aims to significantly improve care for DMD and BMD patients in German-speaking countries, evaluate the effectiveness of new therapies in clinical practice, and establish binding frameworks for quality-assured care.
详细描述
The FAIR-DMD registry is a disease-specific, academically managed registry for patients with Duchenne and Becker muscular dystrophy (DMD/BMD).
Already in early childhood, affected boys show nonspecific developmental abnormalities, such as delays in speech or cognitive development or delayed achievement of motor milestones. Diagnosis is usually made between the ages of three and five through markedly elevated creatine kinase (CK) levels and molecular genetic analyses. The disease course is progressive: after a plateau phase in the preschool years, increasing muscle weakness-despite corticosteroid therapy-typically leads to loss of ambulation in early adolescence. Secondary complications arise from cardiac and respiratory involvement. Life-limiting factors include progressive cardiomyopathy, cardiac arrhythmias, and global respiratory failure, which usually necessitates non-invasive ventilation in early adulthood.
Currently, 26 specialized treatment centers in Germany and 5 in Austria are participating in the project. In Switzerland, a registry for DBMD patients is already being maintained, the Swiss Registry for Neuromuscular Disorders (Swiss-Reg-NMD). The registry is open to all centers that wish to participate in the future. Within the FAIR-DMD project, interoperability between FAIR-DMD and the Swiss registry is being pursued, and additional disease-specific and academically managed European Duchenne registries could be further developed for future data exchange. Data from patients treated with new disease-modifying therapies - which may in the future alter the progression of DMD and BMD - will also be included in the project.
Aims of the study are:
- Harmonization and standardization of care
- Support and evaluation of new disease-modifying therapies
- Improvement of care quality
- Establishment of the registry as an independent research tool
- Ensuring international cooperation and comparability
- Patient-centered approach and collection of subjective indicators
- Aim for sustainability and implementation into routine care To achieve these aims apart of the registry a telemedicine platform will be implemented. The telemedicine platform consists of a web-based dashboard for study personnel and an app for patients. The app will be used for appointment management, communication with the treating doctor and health care professionals, and to fill out Health Related Quality of Life questionnaires. Data from the telemedicine platform will automatically be transferred to the registry and vice versa.
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
- •Genetically confirmed diagnosis of dystrophinopathy
- •Female carriers only if they show clinical symptoms of a dystrophinopathy
- •Treatment in one of the participating centers
- •No age restrictions
- •Ability to understand the patient information and sign the informed consent
- •Consent capability by the patient themselves and/or by the parents
- •Agreement to data exchange between the treating physicians, the telemedicine platform, and the registry
- •Possession of a tablet or a smartphone
排除标准
- •Missing legally valid consent form from the patient and/or legal guardians
- •Project content is not understandable to the participant and/or legal guardians
- •Not in possession of a tablet or smartphone
结局指标
主要结局
EQ-5D-5L
时间窗: * "Baseline" * "every six months" * "through study completion, maximum 15 years"
The EQ-5D is a validated generic instrument for measuring health-related quality of life. It assesses five dimensions (mobility, self-care, usual activities, pain/discomfort, anxiety/depression) and enables the calculation of a health index from 0 (very poor) to 1 (best possible health).
EQ VAS
时间窗: * "Baseline" * "every six months" * "through study completion, maximum 15 years"
A visual analog scale on which patients rate their current state of health on a scale from 0 ("worst possible") to 100 ("best possible").
DMD-QoL
时间窗: * "Baseline" * "every six months" * "through study completion, maximum 15 years"
The DMD-QoL is a disease-specific questionnaire designed to assess the health-related quality of life of people with Duchenne muscular dystrophy. It takes into account physical, emotional, and social aspects as well as the impact of the disease on everyday life. In the DMD-QoL, the raw values of the individual scales are usually transformed onto a scale from 0 to 100. 0 represents the worst possible health-related quality of life, while 100 represents the best possible health-related quality of life-higher values therefore indicate a better perceived quality of life.
次要结局
未报告次要终点
研究者
Dr. Andreas Ziegler
Head of paedKliPS (Pediatric Clinical Pharmacology Study Center)
University Hospital Heidelberg