Search
Search Results
-
The Tuscany Regional Network for rare diseases: from European Reference Networks’ experience to registry based organisation and management model for rare diseases
BackgroundIn the European Union, a disease is defined as rare when it affects fewer than 1 in 2000 people. Currently, there are up to 8000 described...
-
The Role of Pharmacogenomics in Rare Diseases
Rare diseases have become an increasingly important public health priority due to their collective prevalence and often life-threatening nature....
-
Diagnostic delay in rare diseases: data from the Spanish rare diseases patient registry
BackgroundAccording to the International Rare Diseases Research Consortium (IRDiRC), a known rare disease (RD) should be diagnosable within a year....
-
Clinical and genetic characterization of patients with eye diseases included in the Spanish Rare Diseases Patient Registry
BackgroundThe low prevalence of rare diseases poses a significant challenge in advancing their understanding. This study aims to delineate the...
-
Composite endpoints, including patient reported outcomes, in rare diseases
BackgroundWhen assessing the efficacy of a treatment in any clinical trial, it is recommended by the International Conference on Harmonisation to...
-
A brief insight into the rare diseases in Egypt
Rare diseases (RDs) are a group of lifetime incapacitating or fatal diseases affecting nearly 3.5–5.9% of the global population, reaching 263–446...
-
Real-world evidence for coverage determination of treatments for rare diseases
Health technology assessment (HTA) decisions for pharmaceuticals are complex and evolving. New rare disease treatments are often approved more...
-
Frequency-based rare diagnoses as a novel and accessible approach for studying rare diseases in large datasets: a cross-sectional study
BackgroundUp to 8% of the general population have a rare disease, however, for lack of ICD-10 codes for many rare diseases, this population cannot be...
-
Work participation in adults with rare genetic diseases - a sco** review
BackgroundWork participation is a crucial aspect of health outcome and an important part of life for most people with rare genetic diseases. Despite...
-
Estimating mortality in rare diseases using a population-based registry, 2002 through 2019
BackgroundRare diseases (RD) are a heterogeneous group of diseases, sharing aspects of complexity. Prognosis is variable, even in individuals with...
-
Rare diseases in Tanzania: a National Call for Action to address policy and urgent needs of individuals with rare diseases
A rare disease is generally defined as a condition which affects about 1 among 2000 people and currently, there are approximately 5000–8000 rare...
-
Analysis of affordability differences for rare diseases in China: a comparison across disease types and regions
BackgroundChina has implemented policies to make rare diseases more affordable. While previous studies evaluated overall affordability, few have...
-
The value of knowing: preferences for genetic testing to diagnose rare muscle diseases
BackgroundGenetic testing can offer early diagnosis and subsequent treatment of rare neuromuscular diseases. Options for these tests could be...
-
Epidemiological research on rare diseases using large-scale online search queries and reported case data
BackgroundRare diseases have become a major public health concern worldwide. However, detailed epidemiological data are lacking. With the development...
-
Pharmacovigilance for rare diseases: a bibliometrics and knowledge-map analysis based on web of science
ObjectivesThe aims of this paper is to search and explore publications in the field of pharmacovigilance for rare diseases and to visualize general...
-
Issues, Challenges and Opportunities for Economic Evaluations of Orphan Drugs in Rare Diseases: An Umbrella Review
Background and ObjectivesThere are significant challenges when obtaining clinical and economic evidence for health technology assessments of rare...
-
Trend of clinical trials of new drugs for rare diseases in China in recent 10 years
BackgroundRare disease is a general term for a disease that affects a small number of people but recognized as a global public health priority....
-
National Rare Diseases Registry System (NRDRS): China’s first nation-wide rare diseases demographic analyses
BackgroundChina has made tremendous progresses in serving the needs of its people living with rare diseases in the past decade, especially over the...
-
Rare diseases: why is a rapid referral to an expert center so important?
BackgroundPatients with rare diseases usually go through years of diagnostic odysseys. The large number of rare diseases and the associated lack of...
-
Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases
BackgroundIn 2017, the German Academy for Rare Neurological Diseases (Deutsche Akademie für Seltene Neurologische Erkrankungen; DASNE) was founded to...