RecruitingNCT05554835
Mitochondrial
Kearns-Sayre Syndrome
Also known as KSS, oculocraniosomatic syndrome, mtDNA large deletion
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 ata
3
studies recruiting now
as of 7 Sept 2026
10
studies registered in total
as of 7 Sept 2026
5
countries with a recruiting site
as of 7 Sept 2026
26 Sept 2022
most recent study posted
among recruiting studies
Recruiting trials
RecruitingNCT02435940
Inherited Retinal Degenerative Disease Registry
RecruitingNCT01694940
North American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC)
Showing the 3 most recently updated recruiting studies, as recorded 7 Sept 2026. Live status on each study page.
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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
Chronic progressive external ophthalmoplegia (ptosis and ophthalmoplegia)Pigmentary retinopathyCardiac conduction defects and heart blockCerebellar ataxiaProximal muscle weaknessElevated cerebrospinal fluid proteinSensorineural hearing loss and endocrine dysfunction
From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.
Before you apply
Things trial teams commonly ask about for Kearns-Sayre Syndrome. Not eligibility rules; those are set by each study.
- 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.
Related conditions
Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).