Patient registries serve to overcome the research limitations inherent in the study of rare diseases, where patient numbers are typically small. Despite the value of real-world data collected through registries, adequate design and maintenance are integral to data quality. We aimed to describe an overview of the challenges in design, quality management, and maintenance of rare disease registries.A systematic search of English articles was conducted in PubMed, Ovid Medline/Embase, and Cochrane Library. Search terms included “rare diseases, patient registries, common data elements, quality, hospital information systems, and datasets”. Inclusion criteria were any manuscript type focused upon rare disease patient registries describing design, quality monitoring or maintenance. Biobanks and drug surveillances were excluded.A total of 37 articles, published between 2001 and 2021, met the inclusion criteria. Patient registries covered a wide range of disease areas and covered multiple geographical locations, with a predisposition for Europe. Most articles were methodological reports and described the design and setup of a registry. Most registries recruited clinical patients (92%) with informed consent (81%) and protected the collected data (76%). Whilst the majority (57%) collected patient-reported outcome measures, only few (38%) consulted PAGs during the registry design process. Few reports described details regarding quality management (51%) and maintenance (46%).Rare disease patient registries are valuable for research and evaluation of clinical care, and an increasing number have emerged. However, registries need to be continuously evaluated for data quality and long-term sustainability to remain relevant for future use.

Despite surgical correction, children with anorectal malformations may experience long-term bowel dysfunction, including fecal incontinence and/or disorders of evacuation. Anorectal manometry is the most widely used test of anorectal function. Although considerable attention has been devoted to its application in the anorectal malformation cohort, there have been few attempts to consolidate the findings obtained. This systematic review aimed to (1) synthesize and evaluate the existing data regarding anorectal manometry results in children following anorectal malformation repair, and (2) evaluate the manometry protocols utilized, including equipment, assessment approach, and interpretation. We reviewed four databases (Embase, MEDLINE, the Cochrane Library, and PubMed) for relevant articles published between 1 January 1985 and 10 March 2022. Studies reporting post-operative anorectal manometry in children (<18 years) following anorectal malformation repair were evaluated for eligibility. Sixty-three studies were eligible for inclusion. Of the combined total cohort of 2155 patients, anorectal manometry results were reported for 1755 children following repair of anorectal malformations. Reduced resting pressure was consistently identified in children with anorectal malformations, particularly in those with more complex malformation types and/or fecal incontinence. Significant variability was identified in relation to manometry equipment, protocols, and interpretation. Few studies provided adequate cohort medical characteristics to facilitate interpretation of anorectal manometry findings within the context of the broader continence mechanism. This review highlights a widespread lack of standardization in the anorectal manometry procedure used to assess anorectal function in children following anorectal malformation repair. Consequently, interpretation and comparison of findings, both within and between institutions, is exceedingly challenging, if not impossible. Standardized manometry protocols, accompanied by a consistent approach to analysis, including definitions of normality and abnormality, are essential to enhance the comparability and clinical relevance of results.

Purpose: To co-design use of the EQ-5D-Y-5L, a generic Paediatric Patient Reported Outcome Measure (P-PROM), in Routine Outpatient Care for Kids (ROCK), maximising its impact on patient-clinician visits. Methods: This Phase 2 co-design study was guided by the co-design framework for public service design and Double Diamond model. Data collection involved facilitated workshops (building on Phase 1), followed by feedback and optimisation sessions. Participants included service providers (doctors, nurses, allied health and medical record staff), adolescents, and caregivers with lived experience of providing or receiving outpatient care at a tertiary paediatric hospital in Australia. Results: Five co-design workshops, nine feedback, and two optimisation sessions were conducted with nine service providers, two adolescents, and three caregivers. Co-design participants created resources to introduce EQ-5D-Y-5L as a ‘general health tracking questionnaire’ and explain its purpose. EQ-5D-Y-5L responses were designed to be displayed by item. A display of results over time was also designed. A patient empowerment approach was taken with regards to flagging specific EQ-5D-Y-5L items for discussion with clinicians, whereby patients or caregivers control which items are flagged. To ensure clinical review and action of EQ-5D-Y-5L responses, resources, including clinician training, clinician decision support tool, and matching patient booklet and resource pathway, were co-designed. Combined, these design elements make up the P-PROM ROCK Program. Conclusion: Consumer engagement produced important insights that would’ve otherwise been missed, ensuring the P-PROM ROCK Program empowers patients. For generic P-PROMs to meaningfully impact patient-clinician visits, supports and resources are required to ensure clinical review and action.