PMID- 38272714
OWN - NLM
STAT- MEDLINE
DCOM- 20240219
LR  - 20240219
IS  - 1471-499X (Electronic)
IS  - 1471-4914 (Linking)
VI  - 30
IP  - 2
DP  - 2024 Feb
TI  - Omaveloxolone: a groundbreaking milestone as the first FDA-approved drug for 
      Friedreich ataxia.
PG  - 117-125
LID - S1471-4914(23)00281-2 [pii]
LID - 10.1016/j.molmed.2023.12.002 [doi]
AB  - Friedreich ataxia (FA) is an inherited autosomal recessive neurodegenerative 
      disease (NDD) characterized primarily by progressive sensory and spinocerebellar 
      ataxia associated with hypertrophic cardiomyopathy. FA is due to an intronic GAA 
      repeat expansion within the frataxin gene (FXN) leading to reduced levels of 
      frataxin (FXN) which causes mitochondrial dysfunction, production of reactive 
      oxygen species (ROS), and altered iron metabolism. To date there is no resolutive 
      cure for FA; however, the FDA has recently approved omaveloxolone - a potent 
      activator of nuclear factor erythroid 2-related factor 2 (NRF2) - as the first 
      treatment for FA. We discuss herein the urgency to find a resolutive cure for 
      NDDs that will most probably be achieved via combinatorial therapy targeting 
      multiple disease pathways, and how omavaloxolone serves as an example for future 
      treatments.
CI  - Copyright (c) 2023 Elsevier Ltd. All rights reserved.
FAU - Pilotto, Federica
AU  - Pilotto F
AD  - Institut NeuroMyoGene (INMG), Unite Physiopathologie et Genetique du Neurone et 
      du Muscle, Universite Claude Bernard Lyon 1 CNRS UMR 5261, Inserm U1315, Lyon, 
      France.
FAU - Chellapandi, Deepika M
AU  - Chellapandi DM
AD  - Institut NeuroMyoGene (INMG), Unite Physiopathologie et Genetique du Neurone et 
      du Muscle, Universite Claude Bernard Lyon 1 CNRS UMR 5261, Inserm U1315, Lyon, 
      France.
FAU - Puccio, Helene
AU  - Puccio H
AD  - Institut NeuroMyoGene (INMG), Unite Physiopathologie et Genetique du Neurone et 
      du Muscle, Universite Claude Bernard Lyon 1 CNRS UMR 5261, Inserm U1315, Lyon, 
      France. Electronic address: helene.puccio@inserm.fr.
LA  - eng
PT  - Journal Article
PT  - Review
DEP - 20240124
PL  - England
TA  - Trends Mol Med
JT  - Trends in molecular medicine
JID - 100966035
RN  - G69Z98951Q (omaveloxolone)
RN  - 0 (Triterpenes)
RN  - 0 (Frataxin)
SB  - IM
MH  - Humans
MH  - *Friedreich Ataxia/drug therapy/genetics/metabolism
MH  - *Neurodegenerative Diseases
MH  - *Triterpenes/therapeutic use
MH  - *Cardiomyopathy, Hypertrophic
MH  - Frataxin
OTO - NOTNLM
OT  - Friedreich's ataxia
OT  - NRF2 pathway
OT  - ferroptosis
OT  - neurodegenerative diseases
OT  - omaveloxolone
OT  - oxidative stress
COIS- Declaration of interests The authors declare no competing interests.
EDAT- 2024/01/26 00:44
MHDA- 2024/02/19 06:42
CRDT- 2024/01/25 21:52
PHST- 2023/10/23 00:00 [received]
PHST- 2023/12/01 00:00 [revised]
PHST- 2023/12/04 00:00 [accepted]
PHST- 2024/02/19 06:42 [medline]
PHST- 2024/01/26 00:44 [pubmed]
PHST- 2024/01/25 21:52 [entrez]
AID - S1471-4914(23)00281-2 [pii]
AID - 10.1016/j.molmed.2023.12.002 [doi]
PST - ppublish
SO  - Trends Mol Med. 2024 Feb;30(2):117-125. doi: 10.1016/j.molmed.2023.12.002. Epub 
      2024 Jan 24.