Guidelines

The European Commission funded a project dedicated to providing assistance to the ERNs and their healthcare providers in the process of development, appraisal and implementation of clinical practice guidelines (CPGs) and clinical decision support tools (CDSTs) and to improve the capacity of the networks to produce these and adhere to high quality standards.

The consortium running the project produced materials that are the outcome of an extensive literature review and consultation process. The presented methodology is based on the current international “gold standards” that have been developed and used by key international and national bodies and organisations specialised in the development of CPGs and CDSTs.

A 2024 review of this project to assess the quality of its work and deliverables concluded that they were of a very good quality and that the methodology which was proposed for developing guidelines is sound.

The materials can be downloaded by clicking the links below:

• Quick Guide
• Introductory Document
• Summary of the Project
• Summary of the Handbooks
• Handbook #1: Prioritisation of Rare or Low-Prevalence and Complex Rare Diseases that Require CPGs or CDSTs
• Handbook #2: Appraisal of Existing CPGs and CDSTs for Rare or Low-Prevalence and Complex Diseases
• Handbook #3: Adaptation and Adoption of Clinical Practice Guidelines and Clinical Decision Support Tools for Rare or Low-Prevalence and Complex Diseases
• Handbook #4: Methodology for the Development of Clinical Practice Guidelines for Rare or Low-Prevalence and Complex Diseases
• Handbook #5: Methodology for the Development of Clinical Consensus Statements for Rare or Low-Prevalence and Complex Diseases
• Handbook #6: Methodology for the elaboration of Evidence Reports for rare diseases
• Handbook #7: Methodology for the Development of Diagnostic, Monitoring and Therapeutic Pathways for Rare or Low-Prevalence and Complex Diseases
• Handbook #8: Methodology for the Development of Evidence-Based Protocols for Rare or Low Prevalence and Complex Diseases
• Handbook #9: Methodology for the elaboration of Do’s and Don’ts Factsheets for rare diseases
• Handbook #10: Methodology for the Development of Quality Measures for Rare Low-Prevalence
• Handbook #11: Methodology for the Elaboration of Patient Information Booklets for rare diseases
• Handbook #12: Implementation and Evaluation of the Uptake of CPGs and CDSTs for rare diseases

This material is an important step forward for the ERN guidelines programme and a key tool for the work of the ERNs in the production, adaptation, adoption and appraisal of CPGs and CDSTs.

We have established an ERN eUROGEN Guidelines Expert Panel – an overarching group formed of representatives from our healthcare providers, ERN Patient Advocacy Group, and Supporting Partners.  This panel commissions guideline subgroups and oversees guideline development.

EURORDIS has produced an ePAG guide to “Patient Involvement in Clinical Practice Guidelines and Other Clinical Decision Support Tools“.

An ERN eUROGEN Expert Working Group has been adapting existing Dutch guidelines on anorectal malformations (ARM). The first part of this work has been completed, and guidelines have been produced on the diagnosis and treatment of ARM (download here). These have been thoroughly reviewed by our European experts, including patient representatives.

Work began with guidance from the agency assigned to ERN eUROGEN by the Spanish consortium appointed by the European Commission to facilitate ERN guidelines. Once this support ended, Qualicura supported ERN eUROGEN’s experts to ensure the highest scientific quality was in place throughout the methodology in order to produce the adapted clinical practice guideline (CPG) on ARM.

Work is still ongoing to complete other aspects of this CPG.