Patients’ priorities and expectations on an EU registry for rare bone and mineral conditions

Abstract

Background Understanding the natural history of rare bone and mineral conditions is essential for improving clinical practice and the development of new diagnostics and therapeutics. Recruitment and long-term participation in registries are key challenges for researchers. Methods To understand the user needs, the European Reference Network on Rare Bone Diseases (ERN BOND) and European Patient Advocacy Groups developed and implemented a multinational survey about the patient’s preferred database content and functionality through an iterative consensus process. The survey was disseminated by national and international patient groups and healthcare professionals. The findings were analysed using descriptive statistics and multivariate regression. Results There were 493 eligible responses from 378 adults, 15 children and 100 parents, guardians or carers (PGC) across 22 rare bone and mineral conditions. Osteogenesis imperfecta constituted 53.4% of responses. Contents related to improving treatment and medical services scored the highest and contents about anxiety and socializing scored less highly. Additional content was recommended by 205 respondents. Respondents preferred data entry by their Healthcare Provider (HCP). However, less than 50% of adults received followup from their specialist HCP at least annually and 29% were followed up as needed. Conclusions This survey of individuals, their family, guardians and carers has prioritised the key components for an EU-based rare bone and mineral condition research database. The survey highlights issues around collecting psychosocial impacts as well as measures of HCP trust. The survey demonstrated that using only specialist centre visits for data collection, while preferred by patients, will miss a substantial number of individuals, limiting generalisability. Combined HCP and patient platforms will be required to collect representative and complete natural history data for this patient group.

The International X-Linked Hypophosphatemia (XLH) Registry: first interim analysis of baseline demographic, genetic and clinical data

“…Several XLH registries are ongoing, but, to our knowledge, no results have been published in peer-reviewed journals to date. SUNFLOWER (Japan/South Korea) [ 36 ] and the Disease Monitoring Program (United States/Latin America) [ 37 ] are industry-sponsored, with others organized by academic/medical societies (e.g., the European Reference Network on Rare Bone Diseases [ERN BOND] [ 38 ]). SUNFLOWER is a longitudinal, observational cohort study in 160 Asian participants with XLH (initiated in April 2018, with registration remaining open until 30 April 2022; the planned follow-up is 5 years) [ 36 ].…”

Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases

“…This recommendation should also be applied to rare disease registries, which ideally should be governed by multi-stakeholder groups including patient organisations. Furthermore, a registry that allows direct data entry by patients should be considered in the planning of future registries as this will also tackle the long intervals between the regular clinical visits ( Javaid et al, 2021 ). As for other challenges, asking for the completion of an extensive dataset will hold back data entries as respondents clearly reported that an increase from 10 to 20 min was a big challenge.…”

“…Registries and databases can facilitate pooling of data, expert collaboration and patient and health care provider interaction ( EUCERD Core Recommendations on Rare, 2015 , 2016 ). Therefore, disease registries may play a key role in covering unmet needs in the rare disease community ( Javaid et al, 2021 ).…”

“Osteogenesis Imperfecta Patients Wish Orthopedic Surgeons Had Better Strategies to Help with…”—Results of a Patient and Parent-Oriented Survey

“…A similar survey was completed and published recently in Europe for patients with rare bone diseases, 53.4% of the respondents had OI. They found that these patients and families were most interested in improving treatment and medical services and less interested in anxiety and socializing in context with their disease [ 20 ].…”