Journal article

Therapeutic potential of orphan drugs for the rare skeletal muscle diseases

Kristy Swiderski, Gordon S Lynch

Expert Opinion on Orphan Drugs | TAYLOR & FRANCIS LTD | Published : 2015


Introduction: Rare diseases affect ∼350 million people worldwide yet 95% of these diseases do not have a single FDA-approved drug for treatment. The rare skeletal muscle diseases include numerous severe muscle wasting disorders, including spinal muscular atrophy, inclusion body myopathies, glycogen storage disorders and the many muscular dystrophies. While the underlying genetic defects responsible for each of these disorders is usually unique and not always confined to skeletal muscle, muscle fiber atrophy and weakness are common to all of them.Areas covered: Progress in the development of therapies with orphan drug status is detailed for some of the rare skeletal muscle diseases. These the..

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Funding Acknowledgements

Prof G Lynch is a scientific consultant and shareholder in N-Gene Research Laboratories (NY, U.S.A.) and an editorial board member of Expert Opinion on Emerging Drugs. The Basic and Clinical Myology Laboratory is grateful for project grant support from the Australian Research Council, National Health and Medical Research Council, Muscular Dystrophy Association (U.S.A.) and the Association Francaise contre les Myopathies (France). The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.