Enhancing rare disease guideline development with real-world data: a method evaluation

BMC Medical Research Methodology, vol. 26

Abstract

BACKGROUND: Real-world data collection can contribute to quality improvement for rare diseases in several ways. OBJECTIVES: To evaluate a method developed to integrate real-world evidence in guidelines addressing rare diseases (REGARD). METHODS: A guideline on omphalocele was developed following the GIN-McMaster Guidelines 2.0 checklist. After the guideline panel selected clinical questions, systematic literature searches were performed. When published evidence was scarce, REGARD was introduced. Data from the European Pediatric Surgical Audit (EPSA) patient registry was provided to clinical experts after which they noted their observations of treatment effect in structured observation forms (SOFs). Feasibility, added value and acceptability of REGARD were evaluated using a cross-sectional study design. RESULTS: EPSA data were available for seven of the twelve clinical questions selected for this guideline (58%). In 4/7 clinical questions (57%), REGARD contributed to the panels’ decision on a recommendation. Reasons to disregard the supplementary evidence during the formation of a recommendation were: uncertainty about the validity of the observations due to small sample sizes and doubt about the association between the observed outcomes and the intervention because the registry data lacked information on the clinical indication for a chosen treatment. CONCLUSIONS: This study evaluates a method to connect real-world data collection to guideline development in rare diseases, highlighting both the challenges and benefits this method has to offer. Although the methodology requires refinement and the EPSA registry must be optimized, we believe it holds significant promise as a tool for developing guidelines for rare diseases.

Authors 8

1. Willemijn F. E. Irvine corresponding

   Erasmus MC - Sophia Children’s Hospital

   Affiliation as printed

   Department of Evidence Based Medicine and Methodology, Qualicura Healthcare Support Agency, Breda, the Netherlands. w.irvine@erasmusmc.nl

   Department of Pediatric Surgery, Erasmus MC Sophia Children's Hospital, Rotterdam, the Netherlands. w.irvine@erasmusmc.nl

2. Linde Margriet van der Kamp Aachen Dutch Institute for Clinical Auditing

   Dutch Institute for Clinical Auditing · Erasmus MC - Sophia Children’s Hospital

   Affiliation as printed

   Department of Pediatric Surgery, Erasmus MC Sophia Children's Hospital, Rotterdam, the Netherlands

   Dutch Institute for Clinical Auditing, Leiden, the Netherlands

3. Olivia K.C. Spivack

   Erasmus MC - Sophia Children’s Hospital

   Affiliation as printed

   Department of Pediatric Surgery, Erasmus MC Sophia Children's Hospital, Rotterdam, the Netherlands

4. Alexandra Benachi

   Université Paris-Saclay · Hôpital Antoine-Béclère

   Affiliation as printed

   Department of Obstetrics and Gynecology, Antoine Béclère Hospital, Paris Saclay University, Clamart, France

5. Carmen Mesas Burgos

   Karolinska University Hospital

   Affiliation as printed

   Department of Pediatric Surgery, Karolinska University Hospital, Stockholm, Sweden

6. Roel Bakx

   Emma Kinderziekenhuis · Amsterdam University Medical Centers

   Affiliation as printed

   Department of Pediatric Surgery, Emma Children's Hospital, Amsterdam UMC, Amsterdam, the Netherlands

7. Charlotte M. W. Gaasterland Aachen Department of Clinical Epidemiology

   Leiden University Medical Center

   Affiliation as printed

   Department of Clinical Epidemiology, Leiden University Medical Center, Leiden, the Netherlands

8. Rene Wijnen

   Erasmus MC - Sophia Children’s Hospital

   Affiliation as printed

   Department of Pediatric Surgery, Erasmus MC Sophia Children's Hospital, Rotterdam, the Netherlands