The Predictive Value of Models of Neuromuscular Disorders to Potentiate Clinical Translation

Overview

Journal Dis Model Mech

Specialty General Medicine

Date 2022 Aug 1

PMID 35912512

Authors

Maaike van Putten

Affiliations

Soon will be listed here.

Abstract

Neuromuscular disorders (NMDs) are a heterogenous group of rare inherited diseases that compromise the function of peripheral nerves and/or muscles. With limited treatment options available, there is a growing need to design effective preclinical studies that can lead to greater success in clinical trials for novel therapeutics. Here, I discuss recent advances in modelling NMDs to improve preclinical studies as well as two articles from this issue that work in parallel to enable a deeper understanding of a particularly rare NMD, known as X-linked myotubular myopathy.

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References

Gartz M, Lin C, Sussman M, Lawlor M, Strande J . Duchenne muscular dystrophy (DMD) cardiomyocyte-secreted exosomes promote the pathogenesis of DMD-associated cardiomyopathy. Dis Model Mech. 2020; 13(11). PMC: 7673361. DOI: 10.1242/dmm.045559. View

Greener M, Roberts R . Conservation of components of the dystrophin complex in Drosophila. FEBS Lett. 2000; 482(1-2):13-8. DOI: 10.1016/s0014-5793(00)02018-4. View

Gordish-Dressman H, Willmann R, Dalle Pazze L, Kreibich A, van Putten M, Heydemann A . "Of Mice and Measures": A Project to Improve How We Advance Duchenne Muscular Dystrophy Therapies to the Clinic. J Neuromuscul Dis. 2018; 5(4):407-417. PMC: 6218134. DOI: 10.3233/JND-180324. View

Wilton-Clark H, Yokota T . Antisense and Gene Therapy Options for Duchenne Muscular Dystrophy Arising from Mutations in the N-Terminal Hotspot. Genes (Basel). 2022; 13(2). PMC: 8872079. DOI: 10.3390/genes13020257. View

Willmann R, Lee J, Turner C, Nagaraju K, Aartsma-Rus A, Wells D . Improving translatability of preclinical studies for neuromuscular disorders: lessons from the TREAT-NMD Advisory Committee for Therapeutics (TACT). Dis Model Mech. 2020; 13(2). PMC: 7044444. DOI: 10.1242/dmm.042903. View

Szabo P, Ebner J, Koenig X, Hamza O, Watzinger S, Trojanek S . Cardiovascular phenotype of the rat - a suitable animal model for Duchenne muscular dystrophy. Dis Model Mech. 2021; 14(2). PMC: 7927653. DOI: 10.1242/dmm.047704. View

Willmann R, De Luca A, Nagaraju K, Ruegg M . Best Practices and Standard Protocols as a Tool to Enhance Translation for Neuromuscular Disorders. J Neuromuscul Dis. 2016; 2(2):113-117. DOI: 10.3233/JND-140067. View

Wasala N, Chen S, Duan D . Duchenne muscular dystrophy animal models for high-throughput drug discovery and precision medicine. Expert Opin Drug Discov. 2020; 15(4):443-456. PMC: 7065965. DOI: 10.1080/17460441.2020.1718100. View

Nitahara-Kasahara Y, Mizumoto S, Inoue Y, Saka S, Posadas-Herrera G, Nakamura-Takahashi A . A new mouse model of Ehlers-Danlos syndrome generated using CRISPR/Cas9-mediated genomic editing. Dis Model Mech. 2021; 14(12). PMC: 8713987. DOI: 10.1242/dmm.048963. View

10.

Sarikaya E, Sabha N, Volpatti J, Pannia E, Maani N, Gonorazky H . Natural history of a mouse model of X-linked myotubular myopathy. Dis Model Mech. 2022; 15(7). PMC: 9346535. DOI: 10.1242/dmm.049342. View

11.

Straub V, Bertoli M . Where do we stand in trial readiness for autosomal recessive limb girdle muscular dystrophies?. Neuromuscul Disord. 2016; 26(2):111-25. DOI: 10.1016/j.nmd.2015.11.012. View

12.

Lemmers R, Tawil R, Petek L, Balog J, Block G, Santen G . Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2. Nat Genet. 2012; 44(12):1370-4. PMC: 3671095. DOI: 10.1038/ng.2454. View

13.

Voermans N, Vriens-Munoz Bravo M, Padberg G, Laforet P, van Alfen N, Attarian S . 1st FSHD European Trial Network workshop:Working towards trial readiness across Europe. Neuromuscul Disord. 2021; 31(9):907-918. DOI: 10.1016/j.nmd.2021.07.013. View

14.

Wang J, Khodabukus A, Rao L, Vandusen K, Abutaleb N, Bursac N . Engineered skeletal muscles for disease modeling and drug discovery. Biomaterials. 2019; 221:119416. PMC: 7041662. DOI: 10.1016/j.biomaterials.2019.119416. View

15.

van Putten M, Hmeljak J, Aartsma-Rus A, Dowling J . Moving neuromuscular disorders research forward: from novel models to clinical studies. Dis Model Mech. 2020; 13(2). PMC: 7055363. DOI: 10.1242/dmm.044370. View

16.

Mercuri E, Bonnemann C, Muntoni F . Muscular dystrophies. Lancet. 2019; 394(10213):2025-2038. DOI: 10.1016/S0140-6736(19)32910-1. View

17.

Heslop E, Csimma C, Straub V, McCall J, Nagaraju K, Wagner K . The TREAT-NMD advisory committee for therapeutics (TACT): an innovative de-risking model to foster orphan drug development. Orphanet J Rare Dis. 2015; 10:49. PMC: 4417237. DOI: 10.1186/s13023-015-0258-1. View

18.

Santoso J, McCain M . Neuromuscular disease modeling on a chip. Dis Model Mech. 2020; 13(7). PMC: 7358135. DOI: 10.1242/dmm.044867. View

19.

McGreevy J, Hakim C, McIntosh M, Duan D . Animal models of Duchenne muscular dystrophy: from basic mechanisms to gene therapy. Dis Model Mech. 2015; 8(3):195-213. PMC: 4348559. DOI: 10.1242/dmm.018424. View

20.

Dowling J, Gonorazky H, Cohn R, Campbell C . Treating pediatric neuromuscular disorders: The future is now. Am J Med Genet A. 2017; 176(4):804-841. PMC: 5900978. DOI: 10.1002/ajmg.a.38418. View