Patients’ Priorities and Expectations on an EU Registry for Rare Bone and Mineral Conditions

Abstract

BackgroundUnderstanding 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. 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. Findings were analysed using descriptive statistics and regression methods.ResultsThere 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. ConclusionsThis 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.

High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench

“…( 151 ) A way to circumvent this bioinformatic challenge is to establish a standardized, and easily accessible registry for HBM patients, clinicians, and basic/translational scientists. ( 152 ) Similar registries have successfully been set up for other rare bone disorders, such as osteogenesis imperfecta (ROI) (https://oif.org/oiregistry/), Ehlers‐Danlos syndrome (RED) (https://www.ehlers-danlos.com/eds-global-registry/), hypophosphatasia (https://hppregistry.com/), and unifying registries such as the European Registry for rare bone and mineral conditions (https://eurr-bone.com/). An HBM registry could be a pivotal tool to support HBM research and patient management, because the primary aims are collection, analysis, and dissemination of information on a group of people defined by a rare but particular phenotype.…”