Mitochondrial disease registries worldwide: A scoping review.

ABSTRACT:

Background

Mitochondrial diseases are a large group of genetically heterogeneous and clinically diverse disorders. Diagnosis often takes many years for which treatment may not exist. Registries are often used to conduct research, establish natural disease progression, engage the patient community, and develop best disease management practices. In Canada, there are limited centralized registries for mitochondrial disease patients, presenting a challenge for patients and professionals.

Objective

To support the creation of such a registry, a systematic scoping review was conducted to map the landscape of mitochondrial disease patient registries worldwide, with a focus on registry design and challenges. Furthermore, it addresses a knowledge gap by providing a narrative synthesis

SUBMITTER: Abdul-Fatah A 

PROVIDER: S-EPMC9612561 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature