Good-quality research in rare diseases: trials and tribulations

Pediatric Nephrology : Journal of the International Pediatric Nephrology Association
Davide Bolignano, Anna Pisano

Abstract

Despite the fact that rare diseases affecting the kidney are not as uncommon as generally believed, proper clinical guidelines for guiding therapeutic management are scarce or absent owing to the overall lack of reliable scientific evidence. Although the randomized controlled trial (RCT) is the best study design for dealing with questions of intervention, RCTs under low-prevalence conditions are extremely challenging because of the limited number of patients, the variable phenotypic expression, and the long course of these disorders. In this brief review, we aimed to summarize the main alternative methods to traditional RCTs designed with the intent of minimizing the number of subjects needed for recruitment or maximizing the statistical efficiency of study analyses. Most of these approaches have not yet been extensively employed, may denote crucial limitations to wide applicability, or still lack proper validation in the field of rare diseases. Nevertheless, the growing number of proposed strategies is indicative of the perceived necessity by the scientific community to fill the quality gap between clinical guidelines for common and rare pathological conditions.

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Citations

Mar 10, 2017·Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz·Joerg Hasford, Armin Koch
Aug 13, 2021·Journal of Human Lactation : Official Journal of International Lactation Consultant Association·Renee L KamLisa H Amir

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