Találati lista | Tudóstér

001-es BibID:	BIBFORM082917
Első szerző:	Heard, Jean-Michel
Cím:	Availability, accessibility and delivery to patients of the 28 orphan medicines approved by the European Medicine Agency for hereditary metabolic diseases in the MetabERN network / Heard Jean-Michel, Vrinten Charlotte, Schlander Michael, Bellettato Cinzia Maria, van Lingen Corine, Scarpa Maurizio, MetabERN collaboration group
Dátum:	2020
ISSN:	1750-1172 1750-1172
Megjegyzések:	Background: The European Medicine Agency granted marketing approval to 164 orphan medicinal products for rare diseases, among which 28 products intended for the treatment of hereditary metabolic diseases. Taking advantage of its privileged connection with 69 healthcare centres of excellence in this field, MetabERN, the European Reference Network for hereditary metabolic diseases, performed a survey asking health care providers from 18 European countries whether these products are available on the market, reimbursed and therefore accessible for prescription, and actually delivered in their centre. Results: Responses received from 52 centres (75%) concerned the design of treatment plans, the access to marketed products, and the barriers to delivery. Treatment options are always discussed with patients, who are often involved in their treatment plan. Most products (26/28) are available in most countries (15/18). Among the 15 broadly accessible products (88.5% of the centres), 9 are delivered to most patients (mean 70.1%), and the others to only few (16.5%). Among the 10 less accessible products (40.2% of the centres), 6 are delivered to many patients (66.7%), and 4 are rarely used (6.3%). Information was missing for 3 products. Delay between prescription and delivery is on average one month. Beside the lack of availability or accessibility, the most frequent reasons for not prescribing a treatment are patients' clinical status, characteristic, and personal choice. Conclusions: Data collected from health care providers in the MetabERN network indicate that two-third of the orphan medicines approved by EMA for the treatment of hereditary metabolic diseases are accessible to treating patients, although often less than one-half of the patients with the relevant conditions actually received the approved product to treat their disease. Thus, in spite of the remarkable achievement of many products, patients concerned by EMA-approved orphan medicinal products have persistent unmet needs, which deserve consideration. The enormous investments made by the companies to develop products, and the high financial burden for the Member States to purchase these products emphasize the importance of a scrupulous appreciation of treatment value involving all stakeholders at early stage of development, before marketing authorization, and during follow up.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk Orphan medicinal product Access to treatment European Reference Network Hereditary Metabolic Diseases Inborn errors of metabolism
Megjelenés:	Orphanet Journal of Rare Diseases. - 15 : 3 (2020), p. 1-10. -
További szerzők:	Vrinten, Charlotte Schlander, Michael Bellettato, Cinzia Maria van Lingen, Corine Scarpa, Maurizio Szakszon Katalin (1977-) (csecsemő- és gyermekgyógyász, klinikai genetikus) Pfliegler György (1949-) (belgyógyász, hematológus, labor szakorvos) Káposzta Rita (1968-) (csecsemő- és gyermekgyógyász) MetabERN collaboration group
Pályázati támogatás:	Third Health Programme ERN-2016 - Framework Partnership Agreement 2017-2021, Project ID No. 739543. Egyéb
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon:

001-es BibID:	BIBFORM115092
035-os BibID:	(cikkazonosító)441 (Scopus)85144302736 (WoS)000901045700001
Első szerző:	Tumiene, Birute
Cím:	Rare disease education in Europe and beyond : time to act / Tumiene Birute, Peters Harm, Melegh Bela, Peterlin Borut, Utkus Algirdas, Fatkulina Natalja, Pfliegler György, Graessner Holm, Hermanns Sanja, Scarpa Maurizio, Blay Jean-Yves, Ashton Sharon, McKay Lucy, Baynam Gareth
Dátum:	2022
ISSN:	1750-1172
Megjegyzések:	People living with rare diseases (PLWRD) still face huge unmet needs, in part due to the fact that care systems are not sufficiently aligned with their needs and healthcare workforce (HWF) along their care pathways lacks competencies to efficiently tackle rare disease-specific challenges. Level of rare disease knowledge and awareness among the current and future HWF is insufficient. In recent years, many educational resources on rare diseases have been developed, however, awareness of these resources is still limited and rare disease education is still not sufficiently taken into account by some crucial stakeholders as academia and professional organizations. Therefore, there is a need to fundamentally rethink rare disease education and HWF development across the whole spectrum from students to generalists, specialists and experts, to engage and empower PLWRD, their families and advocates, and to work towards a common coherent and complementary strategy on rare disease education and training in Europe and beyond. Special consideration should be also given to the role of nurse coordinators in care coordination, interprofessional training for integrated multidisciplinary care, patient and family-centered education, opportunities given by digital learning and fostering of social accountability to enforce the focus on socially-vulnerable groups such as PLWRD. The strategy has to be developed and implemented by multiple rare disease education and training providers: universities, medical and nursing schools and their associations, professional organizations, European Reference Networks, patient organizations, other organizations and institutions dedicated to rare diseases and rare cancers, authorities and policy bodies.
Tárgyszavak:	Orvostudományok Elméleti orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban folyóiratcikk
Megjelenés:	Orphanet Journal of Rare Diseases. - 17 : 1 (2022), p. 1-20. -
További szerzők:	Peters, Harm Melegh Béla Peterlin, Borut Utkus, Algirdas Fatkulina, Natalja Pfliegler György (1949-) (belgyógyász, hematológus, labor szakorvos) Graessner, Holm Hermanns, Sanja Scarpa, Maurizio Blay, Jean-Yves Ashton, Sharon McKay, Lucy Baynam, Gareth
Internet cím:	Szerző által megadott URL DOI Intézményi repozitóriumban (DEA) tárolt változat
Borító:
Saját polcon: