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Progressive muscular dystrophies team

Isabelle Richard’s team works on muscular dystrophy. These progressive neuromuscular diseases are disabling, and sometimes fatal, without treatment to slow or halt progression of the disease.

The team’s researchers

The team’s projects

The team is developing several lines of research:

  • Study of the pathophysiological mechanisms of the diseases of interest
  • Assessment of approaches based on in vivo delivery of viral vectors (AAV, for adeno-associated virus) and genome editing
  • Improvement of gene transfer strategies
  • Identification of diagnostic and prognostic markers
  • Participation in the genetic or clinical evaluation of patients

After having established the proof of concept, several of the teams’s approaches are now in the clinical development phase, in particular for the treatment of girdle myopathies.

Among recent publications, a detailed understanding of the interactions between titin and calpain makes it possible to analyze the cardiac toxicity observed in preclinical studies.

Recent publications

  1. Roudaut C, Le Roy F, Suel L, Poupiot J, Charton K, Bartoli M, Richard I. Restriction of calpain3 expression to the skeletal muscle prevents cardiac toxicity and corrects pathology in a murine model of limb-girdle muscular dystrophy. Circulation. 2013 Sep 3;128(10):1094-104. doi: 10.1161/CIRCULATIONAHA.113.001340. Epub 2013 Aug 1. PMID: 23908349.

  2. Gicquel E, Maizonnier N, Foltz SJ, Martin WJ, Bourg N, Svinartchouk F, Charton K, Beedle AM, Richard I. AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression. Hum Mol Genet. 2017 May 15;26(10):1952-1965. doi: 10.1093/hmg/ddx066. PMID: 28334834; PMCID: PMC6251615.

  3. Oates EC, Jones KJ, Donkervoort S, Charlton A, Brammah S, Smith JE 3rd, Ware JS, Yau KS, Swanson LC, Whiffin N, Peduto AJ, Bournazos A, Waddell LB, Farrar MA, Sampaio HA, Teoh HL, Lamont PJ, Mowat D, Fitzsimons RB, Corbett AJ, Ryan MM, O’Grady GL, Sandaradura SA, Ghaoui R, Joshi H, Marshall JL, Nolan MA, Kaur S, Punetha J, Töpf A, Harris E, Bakshi M, Genetti CA, Marttila M, Werlauff U, Streichenberger N, Pestronk A, Mazanti I, Pinner JR, Vuillerot C, Grosmann C, Camacho A, Mohassel P, Leach ME, Foley AR, Bharucha-Goebel D, Collins J, Connolly AM, Gilbreath HR, Iannaccone ST, Castro D, Cummings BB, Webster RI, Lazaro L, Vissing J, Coppens S, Deconinck N, Luk HM, Thomas NH, Foulds NC, Illingworth MA, Ellard S, McLean CA, Phadke R, Ravenscroft G, Witting N, Hackman P, Richard I, Cooper ST, Kamsteeg EJ, Hoffman EP, Bushby K, Straub V, Udd B, Ferreiro A, North KN, Clarke NF, Lek M, Beggs AH, Bönnemann CG, MacArthur DG, Granzier H, Davis MR, Laing NG. Congenital Titinopathy: Comprehensive characterization and pathogenic insights. Ann Neurol. 2018 Jun;83(6):1105-1124. doi: 10.1002/ana.25241. PMID: 29691892; PMCID: PMC6105519.

  4. Lostal W, Roudaut C, Faivre M, Charton K, Suel L, Bourg N, Best H, Smith JE, Gohlke J, Corre G, Li X, Elbeck Z, Knöll R, Deschamps JY, Granzier H, Richard I. Titin splicing regulates cardiotoxicity associated with calpain 3 gene therapy for limb-girdle muscular dystrophy type 2A. Sci Transl Med. 2019 Nov 27;11(520):eaat6072. doi: 10.1126/scitranslmed.aat6072. PMID: 31776291; PMCID: PMC7397529.

  5. Amor F, Vu Hong A, Corre G, Sanson M, Suel L, Blaie S, Servais L, Voit T, Richard I, Israeli D. Cholesterol metabolism is a potential therapeutic target in Duchenne muscular dystrophy. J Cachexia Sarcopenia Muscle. 2021 Jun;12(3):677-693. doi: 10.1002/jcsm.12708. PMID: 34037326; PMCID: PMC8200436.
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