A patient-centred and multi-stakeholder co-designed observational prospective study protocol: Example of the adolescent experience of treatment for X-linked hypophosphataemia (XLH)

• Published in: PloS one 2024-01, Vol.19 (1), p.e0295080-e0295080
• Main Authors: Saraff, Vrinda, Boot, Annemieke M, Linglart, Agnès, Semler, Oliver, Harvengt, Pol, Williams, Angela, Bailey, Karen M A, Glen, Fiona, Davies, Elin Haf, Wood, Sue, Greentree, Stephen, Rylands, Angela J
• Format: Article
• Language: English
• Subjects: Adolescent; Adolescents; Cardiac patients; Care and treatment; Caregivers; Co-design; Community involvement; Data collection; Data entry; Delivery of Health Care; Diagnosis; Drug discovery; Evaluation; Familial Hypophosphatemic Rickets; Humans; Hypophosphatemia; Hypothesis testing; Medical research; Medicine, Experimental; Observational studies; Observational Studies as Topic; Patient-centered care; Patients; Physicians; Prospective Studies; Rare diseases; Research design; Research methodology; Stakeholders; Teenagers
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0295080

The importance of patient centricity and keeping the patient at the heart of research design is now well recognised within the healthcare community. The involvement of patient, caregiver and clinician representatives in the study design process may help researchers to achieve this goal and to ensure robust and meaningful data generation. Real-world data collection allows for a more flexible and patient-centred research approach for gaining important insights into the experience of disease and treatments, which is acutely relevant for rare diseases where knowledge about the disease is more likely to be limited. Here, we describe a practical example of a patient-centric, multi-stakeholder approach that led to the co-design of a prospective observational study investigating the lived experience of adolescents with the rare disease, X-linked hypophosphataemia. Specifically, we describe how the knowledge and expertise of a diverse research team, which included expert physicians, research and technology specialists, patients and caregivers, were applied in order to identify the relevant research questions and to ensure the robustness of the study design and its appropriateness to the population of interest within the context of the current clinical landscape. We also demonstrate how a structured patient engagement exercise was key to informing the selection of appropriate outcome measures, data sources, timing of data collection, and to assessing the feasibility and acceptability of the proposed data collection approach.