Abstract
Duchenne muscular dystrophy (DMD) is one of the most severe forms of inherited muscular dystrophies. The disease is caused by the lack of dystrophin, a structurally essential protein; hence, a definitive cure would necessarily have to pass through some form of gene and/or cell therapy. Cell- and genetic-based therapeutics for DMD have been explored since the 1990s; recently, two of the latter have been approved for clinical use, but their efficacy is still very low. In parallel, there have been great ongoing efforts aimed at targeting the downstream pathogenic effects of dystrophin deficiency using classical pharmacological approaches, with synthetic or biological molecules. However, as it is always the case with rare diseases, R&D costs for new drugs can represent a major hurdle for researchers and patients alike. This problem can be greatly alleviated by experimenting the use of molecules that had originally been developed for different conditions, a process known as drug repurposing or drug repositioning. In this review, we will describe the state of the art of such an approach for DMD, both in the context of clinical trials and pre-clinical studies.
Highlights
Duchenne muscular dystrophy (DMD [MIM: 310200]) is an X-linked, progressive form of inherited muscular dystrophies, with an incidence of about 1:5000 [1,2]
DMD is a complex disease, whose management requires a multi-disciplinary approach [5]. When it comes to pharmacological management, the only available options capable of delaying the progression of the disease in terms of skeletal muscle function are two glucocorticoids, deflazacort or prednisone, which to this day represent the gold standard for DMD in terms of pharmacological therapy [6]
Especially for basic research, is often sustained by patients’ Associations, but these can rarely afford the costs of development and clinical testing for new drugs. For these reasons, when it comes to rare diseases, a cost- and time-effective strategy relies on drug repurposing, i.e., the finding of new indications for a drug that has already been approved for a different condition [8]
Summary
Duchenne muscular dystrophy (DMD [MIM: 310200]) is an X-linked, progressive form of inherited muscular dystrophies, with an incidence of about 1:5000 [1,2]. When it comes to pharmacological management, the only available options capable of delaying the progression of the disease in terms of skeletal muscle function are two glucocorticoids, deflazacort or prednisone, which to this day represent the gold standard for DMD in terms of pharmacological therapy [6] Both drugs can significantly prolong ambulation and preserve muscle force in most DMD patients, albeit at the cost of heavy side effects. For these reasons, when it comes to rare diseases, a cost- and time-effective strategy relies on drug repurposing, i.e., the finding of new indications for a drug that has already been approved for a different condition [8] This allows for skipping most, if not all, pharmacokinetics and safety studies, greatly speeding up the process of assessing actual efficacy in patients. More preclinical experimentations are underway to help better characterize the risks and benefits of statins in DMD and inform the optimal molecule to move into clinical studies
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