Diagnostic Criteria and Endpoint

Diagnosis testing has become a crucial component of evidence-based patient care. In rare and pediatric disease, because of the limited understanding on the natural history of the diseases and inherently heterogeneous in the diseases, delay in correctly diagnosing patients has been reported as one of the major obstacles to patients. Another major challenge is the lack of clinically meaningful endpoints. In this chapter, the steps to achieve medical consensus of either diagnosis or endpoints are described in detail. The medical diagnosis consensus or selecting the right endpoints depend on effective multi-stake holders’ collaboration to best utilize the available information or generate the fit-for-purpose evidence. The statistical evaluation of the diagnosis and the endpoints are provided. Successful implementations in case studies are included.