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 Leigh syndrome with cardiomyopathy is primarily due to its rarity, affecting fewer than 200,000 individuals in the U.S. This has resulted in a lack of systematic clinical studies and comprehensive data collection. Additionally, the complex nature of mitochondrial disorders often leads to overlapping symptoms with other conditions, making characterization challenging. Despite these challenges, ongoing research offers hope for better understanding and management of this condition.
To navigate your care effectively, consider seeking a specialist in mitochondrial disorders or a neurologist with expertise in metabolic conditions. These professionals can provide tailored management strategies. Additionally, while there are currently no specific patient organizations for this condition, resources such as the National Organization for Rare Disorders (NORD) at rarediseases.org may offer valuable support. Participating in clinical trials could also provide access to cutting-edge treatments and contribute to the understanding of this condition.
Currently, there are two orphan drugs designated for Leigh syndrome with cardiomyopathy: vatiquinone and an adeno-associated virus vector designed to deliver the human SURF1 gene. These drugs are in development, aimed at addressing the underlying mitochondrial dysfunction. Additionally, there are two active clinical trials investigating potential treatments for this condition. You can find more information about these trials at ClinicalTrials.gov by searching for Leigh syndrome with cardiomyopathy.
Actionable guidance for navigating care for Leigh syndrome with cardiomyopathy
To navigate your care effectively, consider seeking a specialist in mitochondrial disorders or a neurologist with expertise in metabolic conditions. These professionals can provide tailored management strategies. Additionally, while there are currently no specific patient organizations for this condition, resources such as the National Organization for Rare Disorders (NORD) at rarediseases.org may offer valuable support. Participating in clinical trials could also provide access to cutting-edge treatments and contribute to the understanding of this condition.
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.
Kisho delivers this disease record via API, including phenotypes (HPO), genes, orphan drug designations, screening status, and PAG mapping, with version history and governance.