Many biotech and pharmaceuticals companies have prioritized drug development for rare congenital and genetic diseases over the past few years given the high unmet need, rapidly advancing science, and favorable clinical development paths. Rare congenital and genetic diseases often have severe or even fatal manifestations, with few treatments available, but emerging genetic data and new treatment modalities, such as gene therapy, are rendering monogenic diseases more tractable. What’s more, regulatory and legislative initiatives such as Breakthrough Therapy designation, which makes it easier to work with the FDA on tailored trial designs, and the Orphan Drug Act, which provides seven years of regulatory exclusivity, have encouraged development in this space.

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