Objective: mitoSHARE is a worldwide patient-populated registry initiative stewarded by the United Mitochondrial Disease Foundation with the goal of advancing scientific research using data gathered from patients and families affected by mitochondrial disease. We aim to identify and characterize mitochondrial disease patients, both minors and adults, on a global scale in a robust research database.
Background: Patient registries are a critical component of therapeutic development, enabling the identification and characterization of a disease patient community. Importantly, patient-populated registries also help to capture the “patient voice” and provide a rich source of data complementary to clinician-populated registries. Launched in March 2022, mitoSHARE recruits caregivers and patients with any type of mitochondrial disease and regardless of diagnostic status. The registry principally aims to advance research and facilitate clinical trial recruitment, but also provides a suite of support tools for both patients and caregivers.
Results: In the span of just under 3 years, over 2100 patients and caregivers from 47 countries have started the account creation process with more than three fourths providing consent and entering data into mitoSHARE. To-date 83% of registrants are from the United States with most of the participants between 25-64 years of age. 64% of participants identify as patients and 36% as caregivers (~10% as both). Over 60 different types of clinical and genetic diagnoses are represented in the registry, although nearly 30% of patient participants self-report as “suspected mitochondrial disease”, reinforcing the challenging diagnostic journey many members of the mitochondrial disease community endure. 55% of the patients reported that they are genetically diagnosed, and 158 genetic tests have been curated through mitoSHARE.
Conclusions: Since its creation, mitoSHARE has established itself as an effective tool for identifying and characterizing mitochondrial disease patients and caregivers around the world. Future efforts will include continued patient recruitment and engagement, disease specific surveys, publishing additional longitudinal surveys/patient-reported outcomes as well as collaborating with researchers and industry to facilitate research toward the development of treatments and cures for mitochondrial disease.