Innovative Therapieansätze bei hereditären neuromuskulären Erkrankungen View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2018-08-31

AUTHORS

J. Kirschner, B. Schoser

ABSTRACT

Advances in the understanding of the genetic mechanisms and pathophysiology of neuromuscular diseases have recently led to the development of new, innovative and often mutation-specific therapeutic approaches. Methods used include splicing modification by antisense oligonucleotides, read-through of premature stopcodons, use of viral vectors to introduce genetic information, or optimizing the effectiveness of enzyme replacement therapies. The first drugs have already been approved for the treatment of Duchenne muscular dystrophy and spinal muscular atrophy. For other diseases, such as myotubular myopathy, myotonic dystrophy, facioscapulohumeral muscular dystrophy and Pompe disease, new promising approaches are in preclinical or clinical development. As these are rare diseases with a broad spectrum of clinical severity, drug approval is often based on a limited amount of evidence. Therefore, systematic follow-up in the postmarketing period is particularly important to assess the safety and efficacy of these new and often high-priced orphan drugs. More... »

PAGES

1115-1122

References to SciGraph publications

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00115-018-0599-9

DOI

http://dx.doi.org/10.1007/s00115-018-0599-9

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1106468245

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30171303


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