SLSMDS Natural History Study

You may be eligible if

• 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.