Maternally inherited Leigh syndrome is a rare subtype of Leigh syndrome characterized clinically by encephalopathy, lactic acidosis, seizures, cardiomyopathy, respiratory disorders and developmental d...
Comprehensive, easy-to-understand information about this condition
How we create this content →Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 31, 2026
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 31, 2026
The limited documentation surrounding maternally-inherited Leigh syndrome reflects its rarity and the challenges in systematically studying such a small population. As this condition affects fewer individuals, comprehensive clinical studies are scarce. Additionally, the complexity of mitochondrial diseases often leads to overlapping symptoms with other conditions, complicating clinical characterization.
To navigate maternally-inherited Leigh syndrome, it is crucial to seek a specialist with expertise in mitochondrial diseases, such as a neurologist or geneticist familiar with mitochondrial disorders. While no specific patient organizations are currently identified, resources like GARD (rarediseases.info.nih.gov) can provide valuable information and support. Consider participating in clinical trials to contribute to research and gain access to potential new treatments. Additionally, genetic counseling may be beneficial to understand the implications of mitochondrial inheritance and family planning.
Currently, there are two orphan drugs in development for maternally-inherited Leigh syndrome: vatiquinone and an adeno-associated virus 9 (AAV9) vector designed to deliver the human SURF1 protein. Additionally, there are three active clinical trials investigating potential treatments and interventions for this condition. For more information on these trials, you can visit ClinicalTrials.gov and search for 'maternally-inherited Leigh syndrome'.
Actionable guidance for navigating care for maternally-inherited Leigh syndrome
To navigate maternally-inherited Leigh syndrome, it is crucial to seek a specialist with expertise in mitochondrial diseases, such as a neurologist or geneticist familiar with mitochondrial disorders. While no specific patient organizations are currently identified, resources like GARD (rarediseases.info.nih.gov) can provide valuable information and support. Consider participating in clinical trials to contribute to research and gain access to potential new treatments. Additionally, genetic counseling may be beneficial to understand the implications of mitochondrial inheritance and family planning.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Clinical profile data for this condition is not yet available. Phenotype information may still be loading below.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 31, 2026
Consider asking your healthcare providers these condition-specific questions
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
Organizations with approved therapies for this disease
No approved therapies yet
Research is ongoing — 5 companies have orphan drug designations for this disease
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