The Leigh Syndrome Registry

Leigh syndrome, also known as juvenile sub-acute necrotizing encephalopathy, is a progressive
neurodegenerative disorder associated with dysfunction of mitochondrial oxidative
phosphorylation (OXPHOS). First described in 1951 by British neuropsychiatrist Archibald
Denis Leigh, the condition has evolved from a post mortem diagnosis to a clinical entity with
characteristic radiologic and laboratory findings.

Leigh syndrome is a rare and heterogeneous disease, finding a substantial number of patients
to study is difficult. The lack of natural history data in Leigh syndrome and the small
number of patients included in clinical reports thus far has limited the ability to fully
comprehend the progression of this disease and assess prognostic factors. A Leigh syndrome
database will help improve our understanding of this rare disease leading to an improved
ability to predict outcomes and/or improve treatment paradigms. Collecting natural history
data on Leigh syndrome and integrating this information into a database will be useful in
understanding the course of the disease and identifying trends.

Inclusion Criteria:

- All participants with a diagnosis of Leigh syndrome will be invited to participate

Exclusion Criteria:

- People without Leigh syndrome