Where do we stand in trial readiness for autosomal recessive limb girdle muscular dystrophies?

Neuromuscular Disorders : NMD
Volker W Straub, Marta Bertoli

Abstract

Autosomal recessive limb girdle muscular dystrophies (LGMD2) are a group of genetically heterogeneous diseases that are typically characterised by progressive weakness and wasting of the shoulder and pelvic girdle muscles. Many of the more than 20 different conditions show overlapping clinical features with other forms of muscular dystrophy, congenital, myofibrillar or even distal myopathies and also with acquired muscle diseases. Although individually extremely rare, all types of LGMD2 together form an important differential diagnostic group among neuromuscular diseases. Despite improved diagnostics and pathomechanistic insight, a curative therapy is currently lacking for any of these diseases. Medical care consists of the symptomatic treatment of complications, aiming to improve life expectancy and quality of life. Besides well characterised pre-clinical tools like animal models and cell culture assays, the determinants of successful drug development programmes for rare diseases include a good understanding of the phenotype and natural history of the disease, the existence of clinically relevant outcome measures, guidance on care standards, up to date patient registries, and, ideally, biomarkers that can help assess disease s...Continue Reading

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Citations

Apr 2, 2016·Nature Reviews. Neurology·Rachel Thompson, Volker Straub
Dec 1, 2018·Journal of Neuropathology and Experimental Neurology·Riyad El-KhouryMamdouha Ahdab-Barmada
Sep 22, 2019·International Journal of Molecular Sciences·Jaione Lasa-ElgarrestaAinara Vallejo-Illarramendi
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Aug 17, 2020·Current Opinion in Neurology·Claudia Nuñez-PeraltaJordi Díaz-Manera
Jul 20, 2018·Scientific Reports·Sebastian Figueroa-BonaparteJordi Díaz-Manera
Dec 20, 2018·Annals of Clinical and Translational Neurology·Babi Ramesh Reddy NallamilliMadhuri Hegde
Feb 13, 2021·Annals of Neurology·Marni B JacobsVolker Straub
Apr 17, 2021·Stem Cell Research·A J Mateos-AierdiA López de Munain
Jun 11, 2021·The Protein Journal·Dimitra G GeorganopoulouChih-Kao Hu

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