Currently, there is no unified data repository for dystrophinopathies. A wealth of different types of data related to multiple aspects of dystrophinopathies 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). This poses difficulties in diagnosis, management or treatment of the conditions. Thus, researchers and clinicians are usually not able to fully utilize the potential value of the data collected. Currently, there is no available treatment for dystrophinopathies. Significant research effort has been put in developing and testing therapeutic agents (in-vitro and/or in-vivo). Regrettably, only few of these agents are approved for clinical trials assessing their safety and efficacy. Pooling of data from heterogeneous sources at a European level is the most appropriate way to foster research and improve healthcare.
A unified data repository for dystrophinopathies
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. The Repository enables collaboration, collection, curation and publication of dystrophinopathy 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 dystrophinopathy research will be considered for inclusion in the repository. This includes Clinical trials, new and old research datasets, and others. All data is curated and preserved for sustainability in the DDF repository. The Repository is also compliant with provisions of GDPR and current security regulations.
A FAIR approach
To optimize the reuse of dystrophinopathy data collected by different stakeholders, DDF endorsed the World Duchenne Organization FAIR Data Declaration in 2019. It shows a firm commitment towards making dystrophinopathy data 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. The Repository presents data in a standardized way to achieve real-time interoperability with other dystrophinopathy registries, repositories, databases and European Reference Networks (ERN). 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 dystrophinopathy sources through a wider geographical area.