%0 Journal Article
%A Karaa, Amel
%A Bertini, Enrico
%A Carelli, Valerio
%A Cohen, Bruce
%A Ennes, Gregory M
%A Falk, Marni J
%A Goldstein, Amy
%A Gorman, Gráinne
%A Haas, Richard
%A Hirano, Michio
%A Klopstock, Thomas
%A Koenig, Mary Kay
%A Kornblum, Cornelia
%A Lamperti, Costanza
%A Lehman, Anna
%A Longo, Nicola
%A Molnar, Maria Judit
%A Parikh, Sumit
%A Phan, Han
%A Pitceathly, Robert D S
%A Saneto, Russekk
%A Scaglia, Fernando
%A Servidei, Serenella
%A Tarnopolsky, Mark
%A Toscano, Antonio
%A Van Hove, Johan L K
%A Vissing, John
%A Vockley, Jerry
%A Finman, Jeffrey S
%A Abbruscato, Anthony
%A Brown, David A
%A Sullivan, Alana
%A Shiffer, James A
%A Mancuso, Michelango
%T Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial.
%J Orphanet journal of rare diseases
%V 19
%N 1
%@ 1750-1172
%C London
%I BioMed Central
%M DZNE-2024-01365
%P 431
%D 2024
%X As previously published, the MMPOWER-3 clinical trial did not demonstrate a significant benefit of elamipretide treatment in a genotypically diverse population of adults with primary mitochondrial myopathy (PMM). However, the prespecified subgroup of subjects with disease-causing nuclear DNA (nDNA) pathogenic variants receiving elamipretide experienced an improvement in the six-minute walk test (6MWT), while the cohort of subjects with mitochondrial DNA (mtDNA) pathogenic variants showed no difference versus placebo. These published findings prompted additional genotype-specific post hoc analyses of the MMPOWER-3 trial. Here, we present these analyses to further investigate the findings and to seek trends and commonalities among those subjects who responded to treatment, to build a more precise Phase 3 trial design for further investigation in likely responders.Subjects with mtDNA pathogenic variants or single large-scale mtDNA deletions represented 74
%K Humans
%K Male
%K Female
%K DNA, Mitochondrial: genetics
%K Mitochondrial Myopathies: drug therapy
%K Mitochondrial Myopathies: genetics
%K Genotype
%K Adult
%K Middle Aged
%K Oligopeptides: therapeutic use
%K Elamipretide (Other)
%K Mitochondria (Other)
%K MtDNA maintenance (Other)
%K MtDNA multiple deletions (Other)
%K PMM (Other)
%K Replisome (Other)
%K arginyl-2,'6'-dimethyltyrosyl-lysyl-phenylalaninamide (NLM Chemicals)
%K DNA, Mitochondrial (NLM Chemicals)
%K Oligopeptides (NLM Chemicals)
%F PUB:(DE-HGF)16
%9 Journal Article
%2 pmc:PMC11583740
%$ pmid:39574155
%R 10.1186/s13023-024-03421-5
%U https://pub.dzne.de/record/272991