ArticleOrphanet journal of rare diseases2025
'We are the engine': a focus group study on clinical practice guideline development with European patient advocates for rare congenital malformations and/or intellectual disability.
Article in Orphanet journal of rare diseases, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed.
- Guidelines or Other Guidance Documents for Rare Diseases in the Netherlands: When and Where to Invest (Effort, Time and Money)?Clinical and public health guidelines · 2026Article
- The rare disease tree: adolescent voices, family narratives, and health professionals' views in Greece.European journal of pediatrics · 2026Article
- Values of Individuals With Rare Genetic Neurodevelopmental Disorders and Their Family/Caregivers in Healthcare: A Scoping Review to Inform Guideline Development.Journal of intellectual disability research : JIDR · 2026Article
- Community engagement in health guidelines and other normative products: a methodological review.Bulletin of the World Health Organization · 2025Review
Corrections and comments
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Authors and funding
6 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundIndividuals living with rare congenital malformations and/or intellectual disability often face challenges in accessing appropriate healthcare. Clinical practice guidelines (CPGs) may serve as a tool to provide evidence-based care for rare diseases, but their development is complex, and the views of affected individuals and families often remain unknown.
methodsPatient advocates of the European Reference Network ITHACA (Intellectual disability, TeleHealth, Autism and Congenital Anomalies) participated in focus groups in which their experiences with and perspectives on CPG use and development were discussed.
resultsPatient advocates considered CPGs relevant to address information and care needs and support advocacy efforts. Important characteristics included representation of heterogeneity within conditions, a holistic approach in which and how topics are addressed, user-friendly availability for individuals and families, and reliability of information. Guideline development and implementation were described as challenging, iterative processes in which effective partnership between clinicians, patient advocates, and other stakeholders is essential.
conclusionsUnderstanding the perspectives of patient advocates is essential to develop CPGs that meet the life-long and complex care needs of individuals and families living with rare conditions. Identified challenges include balancing the urgency of information needs with thorough guideline development processes, as well as the integration and interpretation of different types of knowledge.
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Registered trials
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