Economic evaluation in the context of rare diseases: is it possible?

Abstract

Abstract

Treino parental para manejo comportamental de crianças com Síndrome de Prader-Willi: impacto sobre a saúde mental e práticas educativas do cuidador

“…Evidence shows that providing care is associated with caregiver psychological profiles which are characterized by stress states, anxiety disorders and depression in at least one member of the couple 25. In Brazil, the monitoring of people with rare diseases is complex, and although PWS is a syndrome that is associated with moderate to severe levels of intellectual disability and should in fact be treated in Psychosocial Care Centers (CAPS) within the health system, the diagnosis is often delayed, consequently so too are the necessary care actions and psychological interventions 26 . It is also the case that there are many difficulties and inconsistencies in public policies for rare diseases in the country, and only a few regions have interdisciplinary treatment centres for patients and their families, with most of these being concentrated in the south and southeast 27,28 . Thus, access to health services that provide psychological, psychiatric and general medical care are also limited for those affected 29. In Brazil, studies focused on monitoring people with PWS, and family interventions remain scarce 30.31 .…”

Characteristics of drugs for ultra-rare diseases versus drugs for other rare diseases in HTA submissions made to the CADTH CDR

“…The parameters included in the definition of a DRD are of wider relevance: to date, DRDs have been considered by some stakeholder groups as being largely exempt from cost-related restrictions commonly placed on drugs for non-RDs, including ‘traditional’ cost-effectiveness thresholds [ 15 – 17 ]. Instead, the potential impact of treatment costs for DRDs are generally considered based on a total projected cost (i.e., a budget impact), an approach that has been criticized for failing to adequately account for the assessment of the relative value of such treatments [ 18 , 19 ]. In our study, we found that higher disease prevalence was associated with lower treatment costs and that the average costs of DURDS were generally substantially higher than those of DORDs.…”

Contextualizing the Genes Altered in Bladder Neoplasms in Pediatric and Teen Patients Allows Identifying Two Main Classes of Biological Processes Involved and New Potential Therapeutic Targets

“…However, there is a clear and remarkable difference between common and rare diseases: the former are usually the subjects of strong research efforts, which generate abundant data and useful knowledge, while investigations performed and financial resources invested for the latter are much less, sometimes negligible. Data available for infrequent pathologies are sparse and often based on single cases, which are treated by physicians living in different countries and, as such, are hardly seen as a whole [ 210 , 211 ]. Additionally, the level of knowledge transmission is generally insufficient [ 212 ] and many physicians and researchers that directly treat or investigate these cases lack the training for properly performing multi-step data analyses similar to those presented in this paper or deal with “knowledge barriers”, which may have many causes [ 213 ].…”