As Ireland is in the initial stages of ERN membership, ePAG membership is in early phase development. Although Ireland has an active rare disease patient organisation base, the population size of 5 million means that many rare diseases do not have an Irish patient organisation. Our study found ...
As Ireland is in the initial stages of ERN membership, ePAG membership is in early phase development. Although Ireland has an active rare disease patient organisation base, the population size of 5 million means that many rare diseases do not have an Irish patient organisation. Our study found ...
This in turn may lead to regional variability in the diagnosis, and therefore, reporting of clinical conditions. In addition to limitations due to the nature of rare-disease registries, there may be different findings, not only related to XLH itself, but to changes in practice over time; for...
The journal does not accept case reports which do not present clinical or pathological findings that can provide information about the mechanisms of a disease. Case reports which just present phenotype information, should not be considered. 收录体裁 Research Review Letter to the Editor Position ...
clinical events and health conditions, wider health concerns beyond fractures; equity concerns; socio-economic mediators for access to treatment; diagnosis and monitoring; interactions with the healthcare system; disease specific and generic HRQoL outcomes; utility measures; factors affecting HRQoL; patient...
et al. Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients. Genome Med. 13, 40 (2021). Article PubMed PubMed Central Google Scholar Kingsmore, S. F. et al. A randomized, controlled trial of...
Most orphan drugs do not meet traditional standards of cost-effectiveness. Yet, most orphan drugs are reimbursed, which implies that other factors are taken into account at the time of reimbursement. To increase accountability of decision-makers, there i
Robert Byrne, MBBCh, PhD (Mater Private Network, Dublin, Ireland), one of the panelists during the Hot Line session, called SENIOR-RITA a negative trial based on the primary endpoint, noting that researchers estimated a 22% relative reduction in the primary outcome with the invasive strategy....
de Bot: Leiden University Medical Center receives grants from the European Huntington’s Disease Network (EHDN) and Cure HD Initiative (CHDI), participates in an EU Horizon 2020 project: Innovative Medicines Initiative (IMI) 2 (IDEA_FAST), and participates in clinical trials sponsored by PR...
In France, under the guidance of successive Rare Disease Plans, MDTs have been extensively developed in the neuromuscular diseases reference centers network (FILNEMUS) (https://www.filnemus.fr/) to reduce diagnostic wandering and to homogenize the therapeutic management of these patients [2]. ...