A wealth of different types of data related to multiple aspects of Duchenne and Becker Muscular Dystrophies (DMD/BMD) exists. However, these datasets exist in different formats, at varying degrees of maturity, often following a siloed approach of collection (country-based, hospital-based, healthcare provider-based, etc), posing difficulties in diagnosis, management or treatment. Thus, researchers and clinicians usually are not able to fully utilize the potential value of the data collected. Currently, there is no available treatment for DMD. Significant research effort has been put in developing and testing therapeutic agents (in-vitro and/or in-vivo), and clinical trials for assessing the safety and efficacy of such agents are approved for even fewer ones. It has been recognised that the pooling of data from heterogeneous sources at a European level is the most appropriate way to foster research and improve healthcare.
DDF aims to foster convergence between different stakeholders and develop a unified data repository, integrating data from heterogeneous sources. To this end, a disease-specific data repository, the DDF repository, has been developed to enable collaboration, collection, curation and publication of DMD and BMD data. Advanced tools for the integration, analysis and mining of these heterogeneous sources of data will also be developed, leading to well-informed decisions on diagnosis, prognosis, therapeutic regimes and care. All disease-specific datasets relevant to DMD and BMD research will be considered for inclusion in the repository, including Clinical trials, new and old research datasets, and others. Data will be curated and preserved for sustainability in the DDF repository, in compliance with the provisions of GDPR and current security regulations.
A FAIR Repository
To optimize the reuse of DMD and BMD data collected by different stakeholders, DDF signed a FAIR Data Declaration in 2019. It shows a firm commitment towards making Duchenne and Becker data more Findable, Accessible under well defined conditions, Interoperable and Reusable by both humans and machines (FAIR). As a result, DDF took the necessary steps to make the new repository FAIR by design, presenting data in a standardized way to achieve real-time interoperability with other Duchenne registries, repositories, databases and ERNs. The use of international standards and ontologies, combined with semantic models will allow computers to capture information and understand relationships. This undoubtedly will facilitate intensive research of multiple Duchenne sources through a wider geographical area.