Natural History and Real‐World Data in Rare Diseases: Applications, Limitations, and Future Perspectives
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Clinical Pharmacology"
DOI: 10.1002/jcph.2134
Abstract: Rare diseases represent a highly heterogeneous group of disorders with high phenotypic and genotypic diversity within individual conditions. Due to the small numbers of people affected, there are unique challenges in understanding rare diseases and… read more here.
Keywords: natural history; world data; rare diseases; real world ... See more keywords
The use of pharmacological chaperones in rare diseases caused by reduced protein stability
Sign Up to like & getrecommendations! Published in 2022 at "PROTEOMICS"
DOI: 10.1002/pmic.202200222
Abstract: Rare diseases are most often caused by inherited genetic disorders that, after translation, will result in a protein with altered function. Decreased protein stability is the most frequent mechanism associated with a congenital pathogenic missense… read more here.
Keywords: use pharmacological; pharmacological chaperones; protein stability; stability ... See more keywords
Patient Empowerment and Involvement in Research.
Sign Up to like & getrecommendations! Published in 2017 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-3-319-67144-4_15
Abstract: Patients with rare diseases often face difficulties in clinical care due to the low prevalence of their diseases and the resulting healthcare professionals' lack of expertise. Valid and standardized guidelines for clinical management are also… read more here.
Keywords: research; rare diseases; involvement research; empowerment involvement ... See more keywords
Cost-of-Illness in Rare Diseases.
Sign Up to like & getrecommendations! Published in 2017 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-3-319-67144-4_17
Abstract: Cost-of-illness (COI) studies quantify the economic burden of a disease, including direct healthcare and non-healthcare costs and productivity losses. Different approaches can be adopted to evaluate the resources associated to a disease and to calculate… read more here.
Keywords: rare diseases; methodology; cost illness; coi studies ... See more keywords
A Global Approach to Rare Diseases Research and Orphan Products Development: The International Rare Diseases Research Consortium (IRDiRC).
Sign Up to like & getrecommendations! Published in 2017 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-3-319-67144-4_20
Abstract: Rare diseases present unique challenges to researchers due to the global distribution of patients, complexity and low prevalence of each disease, and limited availability of data. They are also overwhelming and costly for patients, their… read more here.
Keywords: rare diseases; diseases research; research consortium; irdirc ... See more keywords
The Role of Solidarity(-ies) in Rare Diseases Research.
Sign Up to like & getrecommendations! Published in 2017 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-3-319-67144-4_31
Abstract: Solidarity plays a relevant role in rare diseases (RDs) research to create and enable research in the field. In Europe RDs are estimated to affect between 27 and 36 million people even though single RDs… read more here.
Keywords: solidarity ies; research; rare diseases; solidarity ... See more keywords
Preparing for the Future of Rare Diseases.
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DOI: 10.1007/978-3-319-67144-4_34
Abstract: Members of the rare disease community have devoted significant financial and personnel resources to address the numerous issues surrounding rare diseases. The past has been devoted to developing an emphasis on rare diseases including an… read more here.
Keywords: medicine; research; rare diseases; preparing future ... See more keywords
Facilitating Clinical Studies in Rare Diseases.
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DOI: 10.1007/978-3-319-67144-4_6
Abstract: In recent years, there have been many scientific advances and new collaborations for rare diseases research and, ultimately, the health of patients living with rare diseases. However, for too many rare diseases, there still is… read more here.
Keywords: clinical studies; studies rare; etiology; rare diseases ... See more keywords
Role, function and challenges of multidisciplinary centres for rare diseases exemplified for neurofibromatosis type 1 syndrome
Sign Up to like & getrecommendations! Published in 2020 at "Child's Nervous System"
DOI: 10.1007/s00381-020-04708-1
Abstract: Purpose Neurofibromatosis type 1 (NF1) syndrome is a common rare/orphan disease that manifests itself early in the paediatric age. It imposes a considerable burden upon patients as well as on caregivers. Decisions regarding optimal care… read more here.
Keywords: rare diseases; role function; neurofibromatosis type; function challenges ... See more keywords
A unique e-health and telemedicine implementation: European Reference Networks for rare diseases
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Public Health"
DOI: 10.1007/s10389-019-01052-w
Abstract: Aim According to the European Union (EU), a disease is considered rare when it affects no more than one person in 2000. Rare diseases (RDs) are serious, chronic, and often life-threatening conditions. There are major… read more here.
Keywords: health telemedicine; rare diseases; european reference; reference networks ... See more keywords
Editorial to the themed issue on application of pharmacometrics to the development of drugs for rare diseases
Sign Up to like & getrecommendations! Published in 2019 at "Journal of Pharmacokinetics and Pharmacodynamics"
DOI: 10.1007/s10928-019-09656-1
Abstract: Rare diseases are defined by their numbers. In the United States, a rare disease is defined as one that occurs in less than 200,000 people [1]. In Europe that number is when fewer than 5… read more here.
Keywords: issue; rare diseases; disease; application pharmacometrics ... See more keywords