The journal Rare Diseases and Orphan Drugs has published an article about the rare diseases in Bulgaria. Defining and setting a rare disease inventory is a fundamental part of rare disease policy. This tool is of a paramount importance, as it greatly affects the knowledge and awareness of rare diseases not only among health care practitioners, but among all rare disease stakeholders. An official list of rare diseases is particularly beneficial now in the context of the European reference networks for rare diseases, generating added value at both international and local levels. For full-text article click here.
Orphanet Journal of Rare Diseases has published a paper about the off-label use of orphan medicinal products for rare diseases in Belgium. The study included semi-structured interviews with seven physicians with expertise in the treatment with and six experts in the reimbursement of orphan medicinal products in Belgium. Most participants do agree with the off-label use if the medicinal product is quite safe and well-tolerated, if the on-label indication is rather general and when all other options have failed in some specific, evidence-based indications, especially in children. The full-text article is available here.
Rare Diseases and Orphan Drugs Journal has recently published the results from a research on the attitudes of doctors and patients on the application of narrative medicine in Bulgaria. Narrative medicine helps establishing authentic contact between physician and patient. This requires, however, active participation of both sides in the exchange of information. The full text of the publication is available here.
Folia Medica Journal has published a paper on the economic burden and health-related quality of life (HRQOL) of patients with cystic fibrosis (CF). The study within the European project BURQOL-RD included 33 patients with CF and 17 caregivers from Bulgaria. Median annual costs of CF in Bulgaria were € 24 152 per patient in 2012 as a reference year. Median annual costs in children were found to be significantly higher than those in adults – € 31 945 vs. € 15 714. This outcome came from statistically significant differences in costs for main informal carer and costs for other informal carers. Median annual drug costs were € 13 059. Bulgarian CF patients indicated lowered HRQOL results – 50.00 median VAS score. The full-text article is available here.
What is the impact of rare disease (RD) drugs on Bulgaria’s National Health Insurance Fund’s (NHIF) total drug budget for 2011-2014 is assessed in a new article in Pubmed. NHIF costs for RD therapies were expected to increase up to 74.5 million BGN in 2014 (7.8% of NHIF’s total pharmaceutical expenditure).While simple cost drivers are well known – number of patients treated and mean cost per patient – in fact they depend on the availability and accessibility of effective innovative therapies. As RD were historically underdiagnosed, undertreated and underfunded in Bulgaria, improved access to RD drugs will inevitably lead to increasing budget burden for payers.
Based on the evidence from the new study, a theoretical framework of a budget impact study for RD is proposed:
- A retrospective analysis could provide essential health policy insights in terms of impact on accessibility and population health, which are significant benchmarks in shaping funding decisions in healthcare.
- Budget impact studies are recommended to focus on RD rather than orphan drugs (OD). In policy context, RD are the public health priority. OD is a dynamic characteristic and compromises the consistency and comparability of the calculated budget indicators.
You can read the full text here.
“Frontiers in Public Health”Journal published the article “Prospects of risk-sharing agreements for innovative therapies in a context of deficit spending in Bulgaria” discussing the problems arousing from the need of innovative therapies for some diseases and the priorities and limited resources of the healthcare system.
The analysis describes different types of criteria for choosing a certain reimbursement scheme with shared risk. These RSA are still not legally defined in Bulgaria but are important way to secure access to innovative treatments.
Full article text can be read here.
When rare disease patients tell about their quest for a diagnosis, their stories resemble the ones of heroes seeking something valuable. Edmund Jessop, author of the article “The quest for diagnosis: a narrative analysis of patient journeys” published in the latest issue of Rare Diseases and Orphan Drugs Journal finds the common themes in their narratives.
Though supported by relatives, friends and doctors, patients tend to feel lonely during their search of diagnosis. They need much help and delicacy to go through their biggest ordeal – to learn the meaning of their suffering and its prognosis. Each story is a way to reveal the knowledge gained during their quest. The narratives range from regular descriptions to angry manifestos which demand changes in the healthcare system.
You can read the full article here.
The European Union (EU) policy for healthcare requires the establishment of a system of European Reference Networks, union-wide information databases, and registries for rare diseases (RDs) based on shared criteria. In pursuing its goals, the ‘Building Consensus and Synergies for the EU Registration of RD Patients in Europe’ (EPIRARE) project convened a meeting with experts of the competent health authorities to discuss the role of national institutional RD patient registries in supporting EU patient registration and the room for international cooperation. As a result from discussions, “National Registries of Rare Diseases in Europe: An Overview of the Current Situation and Experiences” analysis was published, compiled with the help of Bularian experts from Rare disease Institute in Plovdiv.
You can find the analysis here.
SYNONIMS: Leukodystrophy with Rosenthal fibers
ICD10 code: G93.8
ORPHANET number: ORPHA58
For more information about this disease, please visit the Orphanet website.
Visitors from North America may also contact NIH Office of Rare Diseases Research website.
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Last modification: 20:15 21.05.2024
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SYNONIMS: –
ICD10 code: Q85.1
ORPHANET number: ORPHA805
For more information about this disease, please visit the Orphanet website.
Visitors from North America may also contact NIH Office of Rare Diseases Research website.
RARE DISEASES LIBRARY:
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Last modification: 20:08 28.08.2010
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