A systematic scoping review on quality criteria for clinical practice guidelines for rare diseases

Rare diseases impose substantial challenges on affected individuals and healthcare systems. While clinical practice guidelines (CPGs) are crucial for standardizing care, tools to assess their trustworthiness are limited, particularly for rare diseases. There is a need for minimum quality criteria to ensure CPG reliability and utility.

This systematic scoping review aims to identify a set of criteria that can be used for evaluating and endorsing CPGs for rare diseases.

A systematic scoping review was conducted using four databases (Ovid/Medline, Embase.com, Scopus, and Google Scholar) from inception to April 9, 2024. The search was developed by a medical information specialist. Titles and abstracts were independently screened by two reviewers, with disagreements resolved through discussion or a third reviewer. Articles were included if they addressed quality criteria for guidelines on rare diseases in general, excluding disease-specific guidelines.

From 9587 unique titles, only one study met the inclusion criteria. The included study, published by Hilton-Boon et al. (2015), summarized an international workshop on the applicability of AGREE II criteria for rare disease guidelines.

Our systematic review identified a single report detailing an international workshop that evaluated the utility of the AGREE II instrument for assessing two guidelines focused on rare diseases. This limited finding highlights a significant gap in methodologies tailored to the specific complexities of rare disease guidelines. The findings underscore the need for a tailored, streamlined set of criteria to address the unique challenges of rare disease guidelines, supporting their development, evaluation, and endorsement in clinical practice.