A systematic overview of rare disease patient registries: challenges in design, quality management, and maintenance.

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.

A Quality Assessment of the ARM-Net Registry Design and Data Collection.

BACKGROUND: Registries are important in rare disease research. The Anorectal Malformation Network (ARM-Net) registry is a well-established European patient registry collecting demographic, clinical, and functional outcome data. We assessed the quality of this registry through review of the structure, data elements, collected data, and user experience. MATERIAL AND METHODS: Design and data elements were assessed for completeness, consistency, usefulness, accuracy, validity, and comparability. An intra- and inter-user variability study was conducted through monitoring and re-registration of patients. User experience was assessed via a questionnaire on registration, design of registry, and satisfaction. RESULTS: We evaluated 119 data elements, of which 107 were utilized and comprised 42 string and 65 numeric elements. A minority (37.0%) of the 2278 included records had complete data, though this improved to 83.5% when follow-up elements were excluded. Intra-observer variability demonstrated 11.7% incongruence, while inter-observer variability was 14.7%. Users were predominantly pediatric surgeons and typically registered patients within 11-30 min. Users did not experience any significant difficulties with data entry and were generally satisfied with the registry, but preferred more longitudinal data and patient-reported outcomes. CONCLUSIONS: The ARM-Net registry presents one of the largest ARM cohorts. Although its collected data are valuable, they are susceptible to error and user variability. Continuous evaluations are required to maintain relevant and high-quality data and to achieve long-term sustainability. With the recommendations resulting from this study, we call for rare disease patient registries to take example and aim to continuously improve their data quality to enhance the small, but impactful, field of rare disease research. LEVEL OF EVIDENCE: V.

Perioperative opioid use in paediatric inguinal hernia patients: A systematic review and retrospective audit of practice.

BACKGROUND: Opioids play a major role in postoperative pain management in children, but their administration remains an under investigated topic. This study aimed to describe perioperative opioid prescribing practices for paediatric inguinal hernia patients in the literature and at The Royal Children's Hospital (RCH) in Melbourne, Australia. MATERIAL/METHOD: A systematic review of English articles (published from 2009 to 2019) was conducted on paediatric (0-18y) inguinal hernia patients who received a postoperative or discharge opioid prescription, or both. The review was combined with a retrospective audit of RCH patients. Demographic, surgical, and analgesic details were collected from the electronic medical records. RESULTS: Fifteen studies (n = 1166; combined mean age 4.93y) met the systematic review criteria. The percentage of patients receiving opioids postoperatively overall ranged from 3.33-100%, and doses ranged from 0.07 to 0.35 mg/kg oMEDD. At the RCH, perioperative opioid use was analyzed from 150 inguinal hernia patients (male - 113, median age - 3 months old). Postoperatively, 26 (17.3%) patients received opioids. The most commonly administered opioids were fentanyl (0.04-0.60 mg/kg oMEDD) in the post anaesthesia care unit and oxycodone (0.14-0.40 mg/kg oMEDD) in the first 24 h postoperatively. Older age at surgery, female sex and absence of regional anaesthesia were significantly associated with higher risk of total opioid use. No patients received an opioid prescription at discharge. CONCLUSION: There is demonstratable variability in opioid prescribing practices for paediatric inguinal hernia patients as described in the literature. At our institution opioids were not used frequently in postoperative period.