Publications

Repurposing of drugs to treat rare diseases (RDs) is vital, but the translational gap between clinical evidence and regulatory approval remains unquantified. Analysis of 47 clinical trials showed that 66% of completed studies met their primary or key secondary endpoints. Nevertheless, only 39% ac...

Duchenne muscular dystrophy (DMD) is a rare X-linked recessive disorder caused by mutations in the DMD gene, resulting in the absence of functional dystrophin. The loss of dystrophin disrupts the dystrophin-associated protein complex (DAPC), leading to progressive degeneration of skeletal and car...

Epidermolysis bullosa simplex (EBS) is a genetic skin disorder driven by dominant pathogenic variants in or genes, leading to cytoskeletal fragility in basal keratinocytes and intraepidermal blistering. No curative therapies are currently available, and the link between keratin mutations and di...