Much progress has been achieved in recent years by the implementation of national patient registries (mitoNET, MITOCON, NAMDC) and biomaterial banks that enable natural history studies, treatment trials, and large-scale NGS diagnostics. The involved researchers and patient organizations world-wide agree, however, that the time is ripe now for the next step: to harmonize existing national resources and integrate them into a global registry, linked to a repository of the respective local and national biomaterial banks.
To this end, we will build on the work done in the first funding period of GENOMIT, in which a dedicated network of scientists and clinicians in mitochondrial medicine and a European repository of databases and biomaterials from mitochondrial patients has been established. The mutual exchange of patient data and materials has already led to marked scientific progress, as documented in numerous joint publications.
In the second funding period, GENOMIT wants
(i) to analyze the content of the existing registries and biomaterial banks from Germany, Italy, and USA, as well as the local databases operated in France and elsewhere manually and by electronic data processing to define the most valuable common data elements,
(ii) to create an internationally harmonized concept both for minimal and extended datasets,
(iii) to analyze the technical platforms of the existing registries (and beyond), regarding operability, user friendliness and data protection issues, and
(iv) to establish a global mitochondrial disease patient registry by implementing the harmonized content on the best possible platform, taking into account privacy, data protection and patient consent issues as well as detailed data use and material transfer agreements.