The Rare Knowledge Mining Methodological Framework for the Development of Practice Guidelines and Knowledge Translation Tools for Rare Diseases

Abstract

Rare diseases bring on a heavy health, social and economic burden that impacts patients' lives and puts pressure on the healthcare system. Furthermore, they are often associated with limited published studies to inform multidisciplinary clinical practice thus limiting evidence-based practice. Moreover, the development of knowledge translation products including clinical care guidelines are often very challenging based on the current available methodological frameworks relying mostly on critical appraisal of the published research evidence where randomized clinical trial design is considered as the gold standard. To overcome this barrier, we proposed the Rare Knowledge Mining Methodological Framework (RKMMF). The RKMMF is one possible answer to improve the development of knowledge translation products for rare diseases. This framework includes other sources of evidence including registry information and qualitative studies and the involvement of expert patients. This article documents the RKMMF structure and its application is exemplified through knowledge translation products developed for a neuromuscular population.

Keywords: Rare disease; clinical practice guidelines; evidence-based practice; knowledge translation; neuromuscular disorders.