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Browse normalized, publication-ready research with direct links to its evidence and source.
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Readable research linked to original sources
Browse normalized, publication-ready research with direct links to its evidence and source.
Loading articles data…
Readable research linked to original sources
Browse normalized, publication-ready research with direct links to its evidence and source.
8 articles
Newest firstBackgroundReal-world data (RWD) from different countries are increasingly used to support regulatory, health technology assessment (HTA), and population-level evidence generation. However, cross-country analyses are challenged by differences in data provenance, healthcare systems, coding practices, completeness, and clinical workflows. The Observational Medical Outcomes Partnership (OMOP) common data model (CDM) i…
Open article record in new tab ↗BackgroundAlthough individually uncommon, rare diseases (RD) collectively affect an estimated 329-624 million people worldwide There are over 6,500 known RD, 85% of which affect fewer than 1 person per million. As a result, the critical amount of data necessary to improve knowledge, care, and treatment can only be achieved through cumulative data collection across different countries in a standardized manner. Howe…
IntroductionGovernments create policies to address societal needs and then assess their effectiveness through policy metrics. The UK Rare Diseases Framework and its England Rare Diseases Action Plans aim to improve the lives of people with lived experience of rare diseases and their carers. Reaching these goals requires more effective engagement with those least likely to interact with NHS services. This paper out…
Background The evaluation of clinical evidence takes account of health benefit (efficacy and safety) and the degree of certainty in the estimate of benefit. In orphan indications practical and ethical challenges in conducting clinical trials, particularly in paediatric patients, often limit the available evidence, rendering structured evaluation challenging. While acknowledging the paucity of evidence, regulators…
Primary supranuclear palsy (PSP) is a rare neurodegenerative disease that perturbs body movement, eye movement, and walking balance. Similar to Alzheimer's disease (AD), the abnormal aggregation of tau fibrils in the central neuronal and glial cells is a major hallmark of PSP disease. In this study, we use multiple approaches, including docking, molecular dynamics, and metadynamics simulations, to investigate the…
BACKGROUNDTraditional value assessment frameworks are challenged in comprehensively assessing the societal value new therapies bring to individuals with rare, progressive, genetic, fatal, neuromuscular diseases such as Duchenne muscular dystrophy (DMD). OBJECTIVETo identify how value assessment frameworks may need to be adapted to measure the value to society of DMD therapies. METHODSThree groups of stakeholders (…
IntroductionImproving care coordination for people with rare conditions may help to reduce burden on patients and carers and improve the care that patients receive. We recently developed a taxonomy of different ways of coordinating care for rare conditions. It is not yet known which models of care coordination are appropriate in different situations. This study aimed to: i) explore what types of care coordination…
Open article record in new tab ↗Background Anomalous biliary opening especially the presence of the ampulla of Vater in the duodenal bulb is a very rare phenomenon. We report clinical implications, laboratory and ERCP findings and also therapeutic approaches in 53 cases. Methods The data were collected from the records of 12.158 ERCP. The diagnosis was established as an anomalous opening of the common bile duct (CBD) into the duodenal bulb when…