SLSMDS Natural History Study

Inclusion Criteria

• •Have an active account on the Champ Foundation Registry (CFR) or be willing to create an account on the CFR.
• •Must have a genetic diagnosis of a single large-scale mitochondrial DNA deletion and must upload their genetic report to the CFR.
• •Have a clinical diagnosis or history of Pearson syndrome OR have symptom onset prior to five years of age and a genetic diagnosis of a single large-scale mitochondrial DNA deletion OR in the opinion of the principal investigator the participant is suitable for participating in this study based on clinical presentation.
• •Participants may be of any age or gender, and originate from any country.