Leigh syndrome global patient registry: uniting patients and researchers worldwide.

ABSTRACT:

Background

Leigh Syndrome (LS) is a rare genetic neurometabolic disorder, that leads to the degeneration of the central nervous system and subsequently, early death. LS can be caused by over 80 mutations in mitochondrial or nuclear DNA. Patient registries are important for many reasons, such as studying the natural history of the disease, improving the quality of care, and understanding the healthcare burden. For rare diseases, patient registries are significantly important as patient numbers are small, and funding is limited. Cure Mito Foundation started a global patient registry for LS in September 2021 to identify and learn about the LS patient population, facilitate clinical trial recruitment, and unite international patients and researchers. Priorities were to allow researcher

SUBMITTER: Zilber S 

PROVIDER: S-EPMC10476366 | biostudies-literature | 2023 Sep

REPOSITORIES: biostudies-literature