ABSTRACT
In rare diseases drug development, some basic considerations are necessary for an accurate and reliable assessment of treatment effects of the rare diseases drug product under investigation. These basic considerations include, but are not limited to, (i) historical data, (ii) ethical consideration, (iii) the use of biomarkers, and (iv) generalizability from regulatory and clinical perspectives. In addition, some statistical aspects are necessarily considered. These statistical aspects include (i) sample size, (ii) study endpoint, (iii) study design, and (iv) statistical methods for data analysis and interpretation. In this chapter, basic considerations and statistical aspects for rare diseases drug development are discussed. In addition, statistical methods for the evaluation of rare diseases clinical trials in terms of predictive confidence interval and reproducibility probability are also described.
