Clinical development in primary mitochondrial diseases at a translational inflection point: Lessons, mechanisms, and emerging therapeutic strategies - 19/07/26

Abstract |
Clinical development for primary mitochondrial diseases (PMDs) has spanned more than two decades, yet therapeutic success remains limited. In this Review, we provide a comprehensive, pharmacology-focused analysis of the PMD clinical trial landscape and identify key mechanistic and translational determinants underlying recent progress. A systematic survey of ClinicalTrials.gov covering January 2010 to April 2026 identified 159 registered studies across PMD subtypes after deduplication, including 110 interventional trials. Progress has been constrained by marked genetic and phenotypic heterogeneity, small and geographically dispersed patient populations, and the lack of validated pharmacodynamic and disease-specific endpoints. Consequently, several well-designed late-stage trials have yielded negative or inconclusive outcomes, and regulatory approvals have historically been scarce. Recent advances, however, indicate a shift in trajectory. Four therapies have achieved regulatory authorization, including idebenone for Leber hereditary optic neuropathy, taurine for MELAS, and recent FDA approvals of doxecitine and doxribtimine (Kygevvi) for thymidine kinase 2 deficiency and elamipretide (FORZINITY) for Barth syndrome. These successes share a convergent translational framework integrating mechanism-based pharmacology, genotype-driven patient selection, and biologically aligned endpoints. Clinical activity has also accelerated, with approximately half of PMD interventional trials initiated since 2020 and 50 studies currently active or recruiting. Emerging strategies include NAD⁺ augmentation, soluble guanylate cyclase stimulation, mTOR modulation, gene therapies, and heteroplasmy-targeting approaches. Collectively, these advances mark an emerging inflection point and suggest a path toward greater regulatory success in the coming decade.
Le texte complet de cet article est disponible en PDF.Highlights |
• | Four therapies are now approved for primary mitochondrial diseases. |
• | Success follows tight alignment of mechanism, genotype, and endpoints. |
• | About half of interventional PMD trials have started since 2020. |
• | Most late-stage PMD trials remain negative, so challenges are not yet solved. |
• | Genotype-enriched designs and aligned biomarkers define the path forward. |
Keywords : Primary mitochondrial disease, Clinical trials, Translational medicine, Gene therapy, Trial design, MELAS, Leber hereditary optic neuropathy
Plan
Vol 201
Article 119699- août 2026 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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