FINALLY! Our paper: "Leigh Syndrome Global Patient Registry: Uniting Patients and Researchers Worldwide" is published in the Orphanet Journal of Rare Diseases!
This has been a truly patient driven effort with Cure Mito Foundation leading this project including doing data analysis and building a diverse and collaborative team of 11 authors who worked together on the paper! We would like to thank each one of the authors who brought their talents, time, and dedication to this project.
To our knowledge this is the first paper about a global patient registry for Leigh syndrome, with many of the reported outcomes reported for the first time. It may also be a first truly international registry in mitochondrial disease with 70% of participants residing outside the United States.
Please note that data analyzed in the paper includes only the first 7 months since our registry was live (September 2021-April 2022). Even at that that time, the amount of information and insights gained from the registry was enormous. Now, nearly 300 participants are enrolled, there's a lot more data and much more is coming up, including an additional paper about data interoperability with CDISC standards which is still undergoing peer review.
Thank you to many of our partners who have supported and encouraged us along the way, and to those medical doctors who shared our registry with their patients.
Special thank you to Dr. Matthew Klein, MD, CEO of PTC Therapeutics for his invaluable input into the design of Leigh syndrome survey.
Finally, thank you to all the patient families who enrolled, took time to share their information, and helped share the registry with their doctors and other families. This registry and paper would not have happened without them.