TY  - JOUR
AU  - Karaa, Amel
AU  - Bertini, Enrico
AU  - Carelli, Valerio
AU  - Cohen, Bruce
AU  - Ennes, Gregory M
AU  - Falk, Marni J
AU  - Goldstein, Amy
AU  - Gorman, Gráinne
AU  - Haas, Richard
AU  - Hirano, Michio
AU  - Klopstock, Thomas
AU  - Koenig, Mary Kay
AU  - Kornblum, Cornelia
AU  - Lamperti, Costanza
AU  - Lehman, Anna
AU  - Longo, Nicola
AU  - Molnar, Maria Judit
AU  - Parikh, Sumit
AU  - Phan, Han
AU  - Pitceathly, Robert D S
AU  - Saneto, Russekk
AU  - Scaglia, Fernando
AU  - Servidei, Serenella
AU  - Tarnopolsky, Mark
AU  - Toscano, Antonio
AU  - Van Hove, Johan L K
AU  - Vissing, John
AU  - Vockley, Jerry
AU  - Finman, Jeffrey S
AU  - Abbruscato, Anthony
AU  - Brown, David A
AU  - Sullivan, Alana
AU  - Shiffer, James A
AU  - Mancuso, Michelango
TI  - Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial.
JO  - Orphanet journal of rare diseases
VL  - 19
IS  - 1
SN  - 1750-1172
CY  - London
PB  - BioMed Central
M1  - DZNE-2024-01365
SP  - 431
PY  - 2024
AB  - 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
KW  - Humans
KW  - Male
KW  - Female
KW  - DNA, Mitochondrial: genetics
KW  - Mitochondrial Myopathies: drug therapy
KW  - Mitochondrial Myopathies: genetics
KW  - Genotype
KW  - Adult
KW  - Middle Aged
KW  - Oligopeptides: therapeutic use
KW  - Elamipretide (Other)
KW  - Mitochondria (Other)
KW  - MtDNA maintenance (Other)
KW  - MtDNA multiple deletions (Other)
KW  - PMM (Other)
KW  - Replisome (Other)
KW  - arginyl-2,'6'-dimethyltyrosyl-lysyl-phenylalaninamide (NLM Chemicals)
KW  - DNA, Mitochondrial (NLM Chemicals)
KW  - Oligopeptides (NLM Chemicals)
LB  - PUB:(DE-HGF)16
C2  - pmc:PMC11583740
C6  - pmid:39574155
DO  - DOI:10.1186/s13023-024-03421-5
UR  - https://pub.dzne.de/record/272991
ER  -