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Review
. 2019 Oct;32(5):715-721.
doi: 10.1097/WCO.0000000000000743.

Advances in primary mitochondrial myopathies

Isabella Peixoto de Barcelos  1 , Valentina Emmanuele, Michio Hirano
Affiliations
Review

Advances in primary mitochondrial myopathies

Isabella Peixoto de Barcelos et al. Curr Opin Neurol. 2019 Oct.

Abstract

Purpose of review: Although mitochondrial diseases impose a significant functional limitation in the lives of patients, treatment of these conditions has been limited to dietary supplements, exercise, and physical therapy. In the past few years, however, translational medicine has identified potential therapies for these patients.

Recent findings: For patients with primary mitochondrial myopathies, preliminary phase I and II multicenter clinical trials of elamipretide indicate safety and suggest improvement in 6-min walk test (6MWT) performance and fatigue scales. In addition, for thymidine kinase 2-deficient (TK2d) myopathy, compassionate-use oral administration of pyrimidine deoxynucleosides have shown preliminary evidence of safety and efficacy in survival of early onset patients and motor functions relative to historical TK2d controls.

Summary: The prospects of effective therapies that improve the quality of life for patients with mitochondrial myopathy underscore the necessity for definitive diagnoses natural history studies for better understanding of the diseases.

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Conflict of interest statement

Conflicts of interest:

IPB reports no conflict of interest.

VE reports no conflict of interest.

MH is a co-inventor on patent applications and holds Orphan Drug Designation (ODD) from the Food and Drug Administration and Rare Pediatric Disease Designation for deoxynucleoside therapy for mitochondrial DNA depletion syndrome including TK2 deficiency. The patent, RDD, and OPDs have been licensed via the Columbia Technology Ventures office to Modis Pharmaceuticals. MH and Columbia University Medical Center (CUMC) have filed patent applications covering the potential use of deoxynucleoside treatment for TK2 deficiency in humans. CUMC has licensed pending patent applications related to the technology to Modis Pharmaceuticals, Inc. and CUMC may be eligible to receive payments related to the development and commercialization of the technology. Any potential licensing fees earned will be paid to CUMC and are shared with MH through CUMC distribution policy. MH is a paid consultant to Modis Pharmaceutical, Inc. The other authors declare no conflicts of interest.

References

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    2. A phase I trial of a tetrapeptide demonstrating safety and possible efficacy for primary mitocondrial myopathy.

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