A framework to amplify the voices of underrepresented children and young people in rare disease research

Rare diseases predominantly affect children and young people (CYP). Current research involving CYP often fails to adequately represent those from lower socioeconomic backgrounds, contributing to widening health and research inequalities. This concise report proposes a framework to build on successful methods that were able to engage with underrepresented CYP. This was achieved through partnership with social enterprise organisations and utilised connections in the community to provide positive knowledge exchange of local services that may enhance their socioeconomic situation, in turn for engaging on how to improve services or advance research. These insights, together with information from scoping the field, were used to develop a practical framework for inclusive Patient and Public Involvement and Engagement (PPIE) with CYP. This framework has been initially designed to be evaluated in CYP with rare kidney diseases, as an exemplar long term health condition. The model of ‘PPIE through collaborative empowerment’ leverages existing community trust to reduce barriers to participation, hopefully opening the door to more representative views from children residing in regions of low socioeconomic status. The framework has potential to be adapted to address other inequalities or adaptation for different diseases, hopefully offering a replicable approach to representative research design. The next stages of this research are to implement the framework and formally evaluate its success.

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Publication Details

Journal
Journal of Patient-Reported Outcomes
Published
2026-03-31
DOI
https://doi.org/10.1186/s41687-026-01056-7
Primary Topic
Genomics and Rare Diseases
Type
article
Field-Weighted Citation Impact
0.00
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article

A framework to amplify the voices of underrepresented children and young people in rare disease research

Jennifer Preston, L. Thomas, Hayley Hardwick, J.D. Peipert et al.
Journal of Patient-Reported Outcomes
Genomics and Rare Diseases
article

A framework to amplify the voices of underrepresented children and young people in rare disease research

Jennifer Preston, L. Thomas, Hayley Hardwick, J.D. Peipert, L. Oni
article en

Abstract

Rare diseases predominantly affect children and young people (CYP). Current research involving CYP often fails to adequately represent those from lower socioeconomic backgrounds, contributing to widening health and research inequalities. This concise report proposes a framework to build on successful methods that were able to engage with underrepresented CYP. This was achieved through partnership with social enterprise organisations and utilised connections in the community to provide positive knowledge exchange of local services that may enhance their socioeconomic situation, in turn for engaging on how to improve services or advance research. These insights, together with information from scoping the field, were used to develop a practical framework for inclusive Patient and Public Involvement and Engagement (PPIE) with CYP. This framework has been initially designed to be evaluated in CYP with rare kidney diseases, as an exemplar long term health condition. The model of ‘PPIE through collaborative empowerment’ leverages existing community trust to reduce barriers to participation, hopefully opening the door to more representative views from children residing in regions of low socioeconomic status. The framework has potential to be adapted to address other inequalities or adaptation for different diseases, hopefully offering a replicable approach to representative research design. The next stages of this research are to implement the framework and formally evaluate its success.

Journal of Patient-Reported Outcomes
University of Liverpool (GB), Great Ormond Street Hospital (GB), Liverpool Women's Hospital (GB), Kidney Care UK (GB), Alder Hey Children's Hospital (GB), University College London (GB), University of Birmingham (GB)
Partnerships for the goals
Openalex Percentile: Top 23%
Genomics and Rare Diseases
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