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A range of approaches to clinical trials for targeted therapy in rare diseases will be discussed, highlighting the need for natural history data to determine which outcomes are important and feasible to measure in a trial setting. Dr. Poduri will review what is needed for a robust, blinded trial as well as N of 1 treatment experiences relevant to the GRIN community. Specific examples of successful N of 1 cases will be discussed for both pharmacological and genetic approaches. Questions around
dosing, gain- and loss-of-function properties of variants, and resource requirements will be considered.