scholarly journals Share your rare with care: a patient corner for the European Reference Networks on Rare Disease

2020 ◽  
Vol 30 (Supplement_5) ◽  
Author(s):  
F Rubba ◽  
E Montella ◽  
I Carannante ◽  
M C Trummolo ◽  
A Simeone ◽  
...  
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Social Issues ◽  
Orphan Drugs ◽  
University Hospital ◽  
Reference Network ◽  
Disease Heterogeneity ◽  
Health Technologies ◽  
European Reference Network ◽  
Coding Systems

Abstract Background The European Reference Network on Rare Disease (ERN) is focused on providing more equitable care across Europe and creates a network of both medical specialists and patient experts. One relevant objective of the activities planned into the ERNs is to address the economic dimensions of rare diseases in order to develop strategies to improve research and patients' access to orphan drugs (ODs) and highly specialized health technologies. The themes built in these preliminary years were directed toward guidelines and policies concerning reimbursement of ODs and direct provision by the healthcare system. Methods to proceed further in humanization of care we establish involvement of patients' associations in decision making and implementation of clinical practice guidelines. We built in Federico II University Hospital where 12 ERN were aligned a front office corner shared between patients association and hospital direction in order to face the patient difficulties along the pathway. The corner is open three times a week on the morning, with a dedicated phone number. Results Main issues regarded the understanding of the disease and the diagnosis (ie, lack of familiarity with the rare disease, disease heterogeneity, lack of established diagnostic criteria, misdiagnosis,) the development of effective treatments and the need for efficacy along the path way of care (ie, geographical limitations, disease coding systems, ethical and privacy issues). Fewer concerns were about the equity of access and other social pressures. Conclusions In general, in ERN context, few people declared to work in human and social issues, including research on patient's quality of life, patient's awareness, or methods for social support. Our findings demonstrated that Patients were positively affected from the corner initiative: this may ameliorate the use of infrastructures offering services, also that rarely known as national and international biobanking platforms, registries and networks. Key messages Humanization of care issues and strategies are nowadays mandatory in rare diseases. Patients are positively affected from shared initiatives.

scholarly journals Rare diseases under different levels of economic analysis: current activities, challenges and perspectives

RMD Open ◽  
2018 ◽  
Vol 4 (Suppl 1) ◽  
pp. e000794 ◽  
Author(s):  
Sara Cannizzo ◽  
Valentina Lorenzoni ◽  
Ilaria Palla ◽  
Salvatore Pirri ◽  
Leopoldo Trieste ◽  
...  
Keyword(s):  
Rare Diseases ◽  
Musculoskeletal Diseases ◽  
Orphan Drugs ◽  
Preliminary Review ◽  
Economic Evaluations ◽  
Reference Network ◽  
Health Technologies ◽  
European Reference Network ◽  
New Treatments ◽  
Different Levels

Rare diseases imply clinical and economic burden as well as a significant challenge for health systems. One relevant objective of the activities planned within the European Reference Network on Rare and Complex Connective Tissue and Musculoskeletal Diseases (ERN ReCONNET) is to address the economic dimensions of rare diseases to identify, develop and suggest strategies to improve research and patients’ access to orphan drugs (ODs) and highly specialised health technologies. This paper presents a preliminary review of the existing policies on rare diseases in the countries of the Network members. It also introduces and discusses the theme of how to perform health economic evaluations of rare diseases and of existing or new treatments for rare diseases. To obtain a preliminary overview aiming at defining the state of the art of rare diseases policies and initiatives in ERN ReCONNET countries, we collected and analysed the rare diseases national plans of all the eight countries of the ERN ReCONNET participants. The preliminary overview that has been performed showed that in all the ERN ReCONNET countries are in place national plans for rare diseases; however, heterogeneity exists in the reimbursement of ODs, direct provision by the healthcare system, involvement of patients’ associations in decision making and implementation of clinical practice guidelines.

scholarly journals Current Legislation and Recommended Procedures / Tvorba národného plánu starostlivosti o pacientov so zriedkavými chorobami, súčasná legislatíva a odporúčané postupy

2013 ◽  
Vol 60 (Supplementum-VIII) ◽  
pp. 6-9
Author(s):  
F. Cisarik
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Reference Network ◽  
National Plan ◽  
Ministry Of Health ◽  
European Reference Network ◽  
The Creation ◽  
Centres Of Expertise

The author elaborates on the requirements for the creation of a national plan for rare disease on the basis of three fundamental parts of the problem: Centres of expertise - European reference network - European registers of rare diseases. He presents some positive examples of the latest developments and points out the difficulties of creation of registers of rare diseases in Europe, as well as in the SR. He emphasizes the role and engagement of the Ministry of Health in the implementation of partial tasks in the process of creation of the national plan and stresses the need to concentrate on a small number of fundamental tasks.

scholarly journals eHealth for patients with rare diseases: the eHealth Working Group of the European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN)

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Alessia Paglialonga ◽  
Raffaella Gaetano ◽  
Leema Robert ◽  
Marine Hurard ◽  
Luisa Maria Botella ◽  
...  
Keyword(s):  
Rare Diseases ◽  
Working Group ◽  
Vascular Diseases ◽  
Mobile App ◽  
Reference Network ◽  
Training And Education ◽  
Digital Platforms ◽  
Patient Organizations ◽  
European Reference Network ◽  
Strategic Assets

Abstract Background The European Reference Network on Rare Multisystemic Vascular Diseases (VASCERN) was launched in 2017 and involves, to date, 35 highly specialised multidisciplinary expert centres (from the 30 full Healthcare Provider members) coming from 11 countries and more than 70 patient organizations from 16 countries. The eHealth Working Group (WG) of VASCERN was set up to develop practical, patient-centred solutions and strategies for effective use of eHealth tools to answer the needs of patients with multisystemic vascular rare diseases. The eHealth WG Following the identified patients’ needs and following the guiding principles of collaboration and patient-centredness, the eHealth WG was created with the following aims: to develop a mobile app to help patients find expert centres and patient organizations, and to develop resources (Pills of Knowledge, PoK) for training and education via digital platforms (eLearning). The mobile app includes, to date, functionalities that allow users to find expert centres and patient organizations across Europe in the area of rare multisystemic vascular diseases. Discussed app developments include personalized digital patient passports, educational material, emergency management guidelines and remote consultations. Regarding training and education, a variety of PoK have been developed. The PoK cover several topics, target several user groups, and are delivered in various formats so that they are easy-to-use, easy-to-understand, informative, and viable for delivery and sharing through digital platforms (eLearning) including, e.g., the VASCERN YouTube™ channel. Conclusion Overall, the work carried out by the eHealth WG of VASCERN can be seen as a pilot experience that may serve as a basis to for collaborative development of patient-centred eHealth tools that answer the needs of patients with various rare diseases, not limited to rare multisystemic vascular diseases. By expanding the multidisciplinary approach here described, clinical and research networks can take advantage of eHealth services and use them as strategic assets in achieving the ultimate goal of ensuring equity of access to prevention programs, timely and accurate diagnosis and specialized care for patients with rare diseases throughout Europe.

scholarly journals Rare disease awareness and perspectives of physicians in China: a questionnaire-based study

2020 ◽  
Author(s):  
Xuefeng Li ◽  
Xiangyu Zhang ◽  
Shu Zhang ◽  
Zijuan Lu ◽  
Jianyong Zhang ◽  
...  
Keyword(s):  
Medical School ◽  
Rare Disease ◽  
Rare Diseases ◽  
Strong Support ◽  
Orphan Drugs ◽  
School Education ◽  
Sufficient Information ◽  
Medical School Education ◽  
Disease Awareness ◽  
Career Length

Abstract Background There are over 16.8 million rare disease patients in China, representing a significant challenge for the healthcare system and society. Rare disease patients often experience delayed diagnosis, misdiagnosis, or improper treatment, which may be due to the lack of rare disease awareness among physicians. Results A total of 224 physicians from different hospitals in China participated in the questionnaire, and 9 rare disease experts were interviewed with open-ended questions. Most physicians (83.5%) were from Tertiary hospitals, which have over 500 beds. Only 5.3% of physicians were moderately or well aware of rare diseases. Most physicians (80.1%) had suspected their patients to have rare diseases less than 3 times. There was a strong support for special legislations for rare diseases and orphan drugs. Further, multinomial logistic regression (MLR) was used to determine whether hospitals, gender, and career length has an impact on perspectives and awareness. It was shown that male physicians were more likely to think newborn screening is important (p<0.05). The longer the career length is, the more likely physicians believe that their previous education has not provided sufficient information about rare diseases and that their hospital has paid enough attention to rare diseases. Physicians from Tertiary A hospitals were more likely to rate the affordability of orphan drugs high. In addition, nine experts believed that rare disease awareness is essential for early diagnosis and timely treatment. These experts also made recommendations on how to improve rare disease awareness through medical school education and continuing training. Conclusions Our study highlighted the importance of improving rare disease awareness among physicians in China. Recommendations about how to improve rare disease awareness in medical school education and establish an online ‘information hub’ are made for considerations of policy-makers.

scholarly journals Time for Change? The Why, What and How of Promoting Innovation to Tackle Rare Diseases – Is It Time to Update the EU’s Orphan Regulation? And if so, What Should be Changed?

2020 ◽  
Vol 5 (2) ◽  
pp. 1-11
Author(s):  
Denis Horgan ◽  
Barbara Moss ◽  
Stefania Boccia ◽  
Maurizio Genuardi ◽  
Maciej Gajewski ◽  
...  
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Orphan Drugs ◽  
Regulatory Pathways ◽  
Regulatory Systems ◽  
Strategic Plans ◽  
The Us ◽  
Deliberative Processes ◽  
Process Coordination

Since developments are global in the healthcare arena, more should be done to align EU and other big markets’ regulatory practices for rare disease patients. Notwithstanding efforts and cooperation between the US and EU aimed to harmonize their strategic plans in the field of orphan drugs, regulatory criteria and procedures to gain the designation, terms and classifications should be still harmonised. Aligning the criteria of prevalence and support to orphan medicines in the various jurisdictions internationally, would facilitate patient recruitment eventually at global level, so as to gain the data and the biological insights required to identify biomarkers and appropriate endpoints needed for progressing clinical development. A conducive regulatory environment can further support the development of medicines to treat rare diseases. Overall there is a need for joined-up regulatory process coordination. Better integration of regulatory pathways and better integration of regulatory systems, such as scientific tools and methods to generate evidence, would be helpful. There is a need to revise and agree the current frameworks to be improved which will take into account the considerations and challenges to diagnose and treat different rare diseases and improve quality of life. Deliberative processes with multi-stakeholders’ involvement for reimbursement should be considered. This paper explores the successes and limitation of both the regulation and its implementation mechanisms in the current regulatory context, and suggests some improvements that could maximise its benefits and boost rare disease research even further.

scholarly journals Prioritizing Rare Diseases: Psychological Effects Influencing Medical Decision Making

2017 ◽  
Vol 37 (5) ◽  
pp. 567-576 ◽  
Author(s):  
Johanna Wiss ◽  
Lars-Ake Levin ◽  
David Andersson ◽  
Gustav Tinghög
Keyword(s):  
Rare Disease ◽  
Rare Diseases ◽  
Orphan Drugs ◽  
Postal Survey ◽  
Psychological Effects ◽  
Medical Decision ◽  
Common Disease ◽  
Common Diseases ◽  
General Preference ◽  
Societal Preferences

Background. Measuring societal preferences for rarity has been proposed to determine whether paying premium prices for orphan drugs is acceptable. Objective. To investigate societal preferences for rarity and how psychological factors affect such preferences. Method. A postal survey containing resource allocation dilemmas involving patients with a rare disease and patients with a common disease, equal in severity, was sent out to a randomly selected sample of the population in Sweden (return rate 42.3%, n = 1270). Results. Overall, we found no evidence of a general preference for prioritizing treatment of patients with rare disease patients over those with common diseases. When treatment costs were equal, most respondents (42.7%) were indifferent between the choice options. Preferences for prioritizing patients with common diseases over those with rare diseases were more frequently displayed (33.3% v. 23.9%). This tendency was, as expected, amplified when the rare disease was costlier to treat. The share of respondents choosing to treat patients with rare diseases increased when presenting the patients in need of treatment in relative rather than absolute terms (proportion dominance). Surprisingly, identifiability did not increase preferences for rarity. Instead, identifying the patient with a rare disease made respondents more willing to prioritize the patients with common diseases. Respondents’ levels of education were significantly associated with choice—the lower the level of education, the more likely they were to choose the rare option. Conclusions. We find no support for the existence of a general preference for rarity when setting health care priorities. Psychological effects, especially proportion dominance, are likely to play an important role when preferences for rarity are expressed.

scholarly journals Rare disease awareness and perspectives of physicians in China: a questionnaire-based study

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Xuefeng Li ◽  
Xiangyu Zhang ◽  
Shu Zhang ◽  
Zijuan Lu ◽  
Jianyong Zhang ◽  
...  
Keyword(s):  
Medical School ◽  
Rare Disease ◽  
Rare Diseases ◽  
Strong Support ◽  
Orphan Drugs ◽  
School Education ◽  
Sufficient Information ◽  
Medical School Education ◽  
Disease Awareness ◽  
Career Length

Abstract Background It is estimated that there are over 16.8 million rare disease patients in China, representing a significant challenge for the healthcare system and society. Rare disease patients often experience delayed diagnosis, misdiagnosis, or improper treatment, which may be due to the lack of rare disease awareness among physicians. Materials and methods A total of 224 physicians from different hospitals in China participated in the questionnaire, and 9 rare disease experts were interviewed with open-ended questions. Results Most physicians (83.5%) were from Tertiary hospitals, which have over 500 beds. Only 5.3% of physicians were moderately or well aware of rare diseases. Most physicians (80.1%) had suspected their patients to have rare diseases less than 3 times. There was a strong support for special legislations for rare diseases and orphan drugs. Further, multinomial logistic regression (MLR) was used to determine whether hospitals, gender, and career length has an impact on perspectives and awareness. It was shown that male physicians were more likely to think newborn screening is important (p < 0.05). The longer the career length is, the more likely physicians believe that their previous education has not provided sufficient information about rare diseases and that their hospital has paid enough attention to rare diseases. Physicians from Tertiary A hospitals were more likely to rate the affordability of orphan drugs high. In addition, nine experts believed that rare disease awareness is essential for early diagnosis and timely treatment. These experts also made recommendations on how to improve rare disease awareness through medical school education and continuing training. Conclusions Our study highlighted the importance of improving rare disease awareness among physicians in China. Recommendations about how to improve rare disease awareness in medical school education and establish an online ‘information hub’ are made for considerations of policy-makers.

scholarly journals Rare disease awareness and perspectives of physicians in China: a questionnaire-based study

2020 ◽  
Author(s):  
Xuefeng Li ◽  
Xiangyu Zhang ◽  
Shu Zhang ◽  
Zijuan Lu ◽  
Jianyong Zhang ◽  
...  
Keyword(s):  
Medical School ◽  
Rare Disease ◽  
Rare Diseases ◽  
Strong Support ◽  
Orphan Drugs ◽  
School Education ◽  
Sufficient Information ◽  
Medical School Education ◽  
Disease Awareness ◽  
Career Length

Abstract Background: It is estimated that there are over 16.8 million rare disease patients in China, representing a significant challenge for the healthcare system and society. Rare disease patients often experience delayed diagnosis, misdiagnosis, or improper treatment, which may be due to the lack of rare disease awareness among physicians. Materials and Methods: A total of 224 physicians from different hospitals in China participated in the questionnaire, and 9 rare disease experts were interviewed with open-ended questions.Results: Most physicians (83.5%) were from Tertiary hospitals, which have over 500 beds. Only 5.3% of physicians were moderately or well aware of rare diseases. Most physicians (80.1%) had suspected their patients to have rare diseases less than 3 times. There was a strong support for special legislations for rare diseases and orphan drugs. Further, multinomial logistic regression (MLR) was used to determine whether hospitals, gender, and career length has an impact on perspectives and awareness. It was shown that male physicians were more likely to think newborn screening is important (p<0.05). The longer the career length is, the more likely physicians believe that their previous education has not provided sufficient information about rare diseases and that their hospital has paid enough attention to rare diseases. Physicians from Tertiary A hospitals were more likely to rate the affordability of orphan drugs high. In addition, nine experts believed that rare disease awareness is essential for early diagnosis and timely treatment. These experts also made recommendations on how to improve rare disease awareness through medical school education and continuing training. Conclusions: Our study highlighted the importance of improving rare disease awareness among physicians in China. Recommendations about how to improve rare disease awareness in medical school education and establish an online ‘information hub’ are made for considerations of policy-makers.

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