"This project builds on results from the TREAT-NMD and BIO-NMD European projects to develop a personalised-medicinal product through to market for the treatment of Duchenne Muscular Dystrophy (DMD). DMD is an inheritable, childhood rare disease that affects approximately 1 in 3,500 newborn boys. This rare disease is caused by mutations in the dystrophin gene, resulting in the absence or defect of the dystrophin protein. As a result, patients suffer from progressive loss of muscle strength, typically rendering them wheelchair-bound before the age of 12 and most patients die in early adulthood due to respiratory and cardiac failure. At present, there is no effective treatment for DMD. The goal of the SCOPE-DMD project is to develop a therapy that can restore the expression of a functional dystrophin protein in a targeted DMD patient sub-population. This will be achieved using RNA-based technology, specifically antisense oligonucleotides (AON) inducing exon skipping. The clinical heterogeneity and disease complexity in rare diseases present a major challenge to properly observe statistically and clinically meaningful treatment effects. Innovative clinical study designs and novel outcome measures are required to reduce development timelines. Based on extensive experience from classical clinical trials of two other AONs in DMD patients, the consortium has designed a highly innovative development plan, including an innovative clinical trial design that if successful, could be applied to future clinical trials in DMD and other rare diseases. Also novel biomarkers and functional outcome measures will be incorporated in additional to more established ones. Multiple layers of expertise and scientific knowledge come together in this SCOPE-DMD project consortium to launch an innovative drug product but also to provide a regulatory and pathway-to-market precedence in order to benefit future patients with rare disorders getting earlier access to treatment."
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