Objective: mitoSHARE is a worldwide patient-populated registry led by the United Mitochondrial Disease Foundation that aims to transform mitochondrial disease research through large-scale, real-world data collection. By enrolling pediatric and adult patients globally, mitoSHARE provides a scalable research infrastructure to advance diagnosis, scientific discovery and therapeutic development.
Background: Patient registries are a critical component of therapeutic development, enabling systematic identification and characterization of disease populations. Patient-populated registries uniquely capture the patient voice and generate real-world data that complement clinician-reported datasets. mitoSHARE is a global registry that enrolls patients affected by any form of mitochondrial disease, regardless of their diagnostic status. Since its inception in 2022, mitoSHARE has supported two clinical research studies and a prospective natural history study while also providing resources and support tools for participants.
Results: As of the reporting period, nearly 1600 participants from 58 countries (85% residing in the United States) provided informed consent and are research-ready. The majority of enrolled patients are between 31 and 50 years of age, and 68% identified as female. With respect to diagnostic status, 38% of patients self-reported a suspected mitochondrial disease. In an effort to advance the diagnostic journey of such patients, 40% of participants surveyed were determined to be eligible for a no-cost genetic testing program facilitated through mitoSHARE. Importantly, another 49% of enrolled patients reported a genetically confirmed diagnosis and to-date over 400 genetic test results have been curated within the registry to create a genetically well-characterized cohort to support clinical research.
Conclusions: mitoSHARE continues to grow and demonstrate the impact of a global, patient-populated registry for mitochondrial disease. Future expansion includes additional natural history studies and multi-lingual incorporation of platform and survey translations, enhancing international participation, inclusivity, and the generation of global real-world data to support further therapeutic development in mitochondrial disease.