Novel Strategies in Gangliosidoses Therapy

Dear Colleagues,

The Orphan Drug Act (passed in the United States in 1983) and the European Rare Disease Program (adopted by the European Union Counsel in 1995) are examples of legislations that ushered in an era of drug development aimed at creating therapies for orphan diseases. Orphan diseases are rare diseases, for which the rarity limits market size, thereby limiting resources for drug development. The various rare disease legislations encourage rare disease therapy development by implementing a number of methods. These can include tax incentives and clinical research subsidies for rare disease drug development, lowering statistical burden for clinical trials involving small patient populations, and creating research enterprises at government level to help guide and enable rare disease drug development. 

This Special Issue of Pharmaceuticals examines the therapy development landscape for gangliosidoses, a group of rare diseases that have sometimes been further defined as “ultra-rare”, due to the exceptionally small worldwide patient population. One might also say that gangliosidoses have been “ultra-orphaned”, not only by disease rarity, but also by challenges in treating the central nervous system pathology. The longstanding absence of gangliosidosis-targeted therapies finally ended in recent years, following the entry of several gene therapies and small-molecule therapies into clinical trials. Research momentum continues to increase with more therapies being researched and more clinical trials being planned. 

This Pharmaceuticals journal invites researchers to submit reviews and original articles that will enhance our understanding of the natural history of the gangliosidoses, therapies for gangliosidoses (e.g., small molecules, gene therapies, enzyme replacement, and palliative care), the challenges in treating the central nervous system, and meaningful outcome measures for gangliosidosis clinical trials.

Dr. Jeanine Jarnes
Guest Editor

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