About Kearns-Sayre Syndrome
Kearns-Sayre syndrome is a sporadic mitochondrial disease defined by the triad of onset before age 20, chronic progressive external ophthalmoplegia, and pigmentary retinopathy, plus at least one of cardiac conduction defects, cerebellar ataxia, or elevated CSF protein. It is caused by large-scale single deletions in mitochondrial DNA, typically several kilobases in size, arising de novo and leading to multisystem dysfunction. Cardiac involvement, including complete heart block, is the most life-threatening feature and may require pacemaker implantation.
Common Clinical Features
Clinical Trial Eligibility Tips
What to know before applying to Kearns-Sayre Syndrome trials.
Molecular confirmation of a large-scale mtDNA deletion by Southern blot or long-range PCR is required for most KSS trials; blood heteroplasmy may be low, so muscle tissue testing is preferred.
Cardiac monitoring history, including Holter and ECG, is a standard pre-screening requirement given the high risk of sudden cardiac death from conduction defects.
Trials may exclude patients with pacemakers if study devices or imaging protocols are incompatible; confirm your pacemaker model details in advance.
Patient Resources
Natural History Registry
North American Mitochondrial Disease Consortium (NAMDC) Registry
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