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Published on: July 15, 2014
Therapeutic approaches in different congenital myopathies
Charlotte Gineste1, Jocelyn Laporte1
1Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), Inserm U1258, Cnrs UMR7104, Strasbourg University, Illkirch 67404, France.
Abstract:
Congenital myopathies are rare and severe genetic diseases affecting the skeletal muscle function in children and adults. They present a variable spectrum of phenotypes and a genetic heterogeneity. Subgroups are defined according to the clinical and histopathological features and encompass core myopathy, centronuclear myopathy, nemaline myopathy and other rare congenital myopathies. No approved treatment exists to date for any congenital myopathies. To tackle this important unmet need, an increased number of proof-of-concept studies recently assessed the therapeutic potential of various strategies, either pharmacological or genetic-based, aiming at counteracting muscle weakness or/and cure the pathology. Here, we list the implicated genes and cellular pathways, and review the therapeutic approaches preclinically tested and the ongoing/completed clinical trials for the different types of congenital myopathies.
Insights
Congenital myopathies are rare genetic muscle diseases with no current treatments. This review details therapeutic strategies and clinical trials for these debilitating conditions.
Area of Science:
- Neurology
- Genetics
- Muscle Biology
Background:
- Congenital myopathies are severe genetic disorders impacting skeletal muscle function.
- These diseases exhibit diverse phenotypes and genetic causes, including core, centronuclear, and nemaline myopathies.
- Currently, no approved treatments exist for congenital myopathies.
Purpose of the Study:
- To review implicated genes and cellular pathways in congenital myopathies.
- To summarize preclinical therapeutic approaches for congenital myopathies.
- To provide an overview of ongoing and completed clinical trials for congenital myopathies.
Main Methods:
- Literature review of genetic causes and cellular pathways.
- Survey of preclinical studies on pharmacological and genetic-based therapies.
- Compilation of data from registered clinical trials.
Main Results:
- Identified key genes and cellular targets for therapeutic intervention.
- Detailed various preclinical strategies, including pharmacological and gene-based approaches.
- Summarized the status and findings of clinical trials across different congenital myopathy subtypes.
Conclusions:
- Significant progress has been made in understanding congenital myopathy pathogenesis.
- Multiple therapeutic avenues are under investigation, showing promise in preclinical models.
- Ongoing clinical trials represent crucial steps towards potential treatments for patients.
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