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 Patient Empowerment in Rare Diseases Slovak Rare Disease Alliance − Contribution to the Creation of the National Plan of Rare Diseases in Slovakia Eurordis – Benefits of Membership / Pacientske organizácie v oblasti zriedkavých chorôb – ich činnosť aj pri príprave národného plánu v SR slovenská aliancia zriedkavých chorôb Eurordis - európska aliancia zriedkavých chorôb – výhody členstva

2013 ◽  
Vol 60 (Supplementum-VIII) ◽  
pp. 41-45
Author(s):  
B. Ramljaková
Keyword(s):  
Health Care ◽  
Rare Disease ◽  
Rare Diseases ◽  
Disease Patient ◽  
Insurance Company ◽  
National Plan ◽  
Patient Health ◽  
The Creation ◽  
Rare Disease Patient ◽  
Care Development

After the endorsement of the National strategy of rare disease patient health care development for years 2012 - 2013 by the government of the SR on October 24, 2012, it is important for all participants in the process to get involved. (Who are all the participants? - doctors, pharmacists, scientist, national authorities, regulators, health insurance companies, social insurance company, health care and social workers, pharmaceutical industry, but also politicians, patients and patient organizations) Based on the experience and problems which are being solved by patients, it is necessary for POs to focus on areas important for the creation of NP RD in the SR. These are most of all: complex approach to patients based on a multidisciplinary team, inclusion of patients into decision making - an educated patient is a prerequisite for this; specialized services for RD patients and their families; integration of RD patients into existing health care and social system and help lines. Slovak Alliance of Rare Diseases (Alliance RD) was founded and registered at the Ministry of Interior of the SR on December 12, 2011. The reason for its foundation was the effort to solve problems in the area of RDs in a complex and systemic way, which is proved by its involvement in the creation of NP RD in the SR. It houses 12 POs working in the field of RD in Slovakia. The objective of the Alliance RD is to keep improving the health and social life conditions of rare disease patients and their families, to improve the quality of rare disease patients’ lives, and to support their social integration. In close cooperation with EURORDIS - Rare Disease Europe − it took part in EUROPLAN II (2012 - 2015), a project organized by the National conference for the support of the creation of National plan of rare disease patient health care development in Slovakia.

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 The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Graeme C. Black ◽  
◽  
Panagiotis Sergouniotis ◽  
Andrea Sodi ◽  
Bart P. Leroy ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Rare Diseases ◽  
Eye Diseases ◽  
Reference Network ◽  
Genomic Testing ◽  
Main Body ◽  
National Plan ◽  
Member States ◽  
Technological Advances ◽  
Number Of Patients

Abstract Background Rare Eye Diseases (RED) are the leading cause of visual impairment and blindness for children and young adults in Europe. This heterogeneous group of conditions includes over 900 disorders ranging from relatively prevalent disorders such as retinitis pigmentosa to very rare entities such as developmental eye anomalies. A significant number of patients with RED have an underlying genetic etiology. One of the aims of the European Reference Network for Rare Eye Diseases (ERN–EYE) is to facilitate improvement in diagnosis of RED in European member states. Main body Technological advances have allowed genetic and genomic testing for RED. The outcome of genetic testing allows better understanding of the condition and allows reproductive and therapeutic options. The increase of the number of clinical trials for RED has provided urgency for genetic testing in RED. A survey of countries participating in ERN-EYE demonstrated that the majority are able to access some forms of genomic testing. However, there is significant variability, particularly regarding testing as part of clinical service. Some countries have a well-delineated rare disease pathway and have a national plan for rare diseases combined or not with a national plan for genomics in medicine. In other countries, there is a well-established organization of genetic centres that offer reimbursed genomic testing of RED and other rare diseases. Clinicians often rely upon research-funded laboratories or private companies. Notably, some member states rely on cross-border testing by way of an academic research project. Consequently, many clinicians are either unable to access testing or are confronted with long turnaround times. Overall, while the cost of sequencing has dropped, the cumulative cost of a genomic testing service for populations remains considerable. Importantly, the majority of countries reported healthcare budgets that limit testing. Short conclusion Despite technological advances, critical gaps in genomic testing remain in Europe, especially in smaller countries where no formal genomic testing pathways exist. Even within larger countries, the existing arrangements are insufficient to meet the demand and to ensure access. ERN-EYE promotes access to genetic testing in RED and emphasizes the clinical need and relevance of genetic testing in RED.

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 Potentials and current shortcomings in the cooperation between German centers for rare diseases and primary care physicians: results from the project TRANSLATE-NAMSE

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
D. Druschke ◽  
F. Krause ◽  
G. Müller ◽  
J. Scharfe ◽  
G. F. Hoffmann ◽  
...  
Keyword(s):  
Primary Care ◽  
Rare Disease ◽  
Rare Diseases ◽  
Primary Care Physicians ◽  
Postal Survey ◽  
National Plan ◽  
Major Step ◽  
Interface Management ◽  
Telephone Interviews ◽  
Center For Rare Diseases

Abstract Background The TRANSLATE-NAMSE project with the strengthening of the centers for rare diseases with their affiliation to the European Reference Networks was a major step towards the implementation of the German National Plan of Action for People with Rare Diseases establishing better care structures. As primary care physicians, general practitioners and pediatricians play a central role in the diagnosis of patients with rare disease, as it is usually them referring to specialists and rare disease centers. Therefore, the interface management between primary care physicians and the centers for rare diseases is of particular importance. Methods In a mixed-method-approach an anonymous postal survey of 1,500 randomly selected primary care physicians in Germany was conducted with focus on (1) knowledge about a center for rare diseases and how it works, (2) in case of cooperation, satisfaction with the services provided by centers, and (3) expectations and needs they have with regard to the centers. In addition, in-depth telephone interviews were conducted with physicians who had already referred patients to a center. Results In total, 248 physicians responded to the survey, and 15 primary care physicians were interviewed. We observed a wide lack of knowledge about the existence of (45.6% confirmed to know at least one center) about how to access rare disease centers (50.4% of those who know a center confirmed knowledge) and what the center specializes in. In case of cooperation the evaluation was mostly positive. Conclusion To improve medical care, the interplay between primary care physicians and rare disease centers needs to be strengthened. (1) To improve the communication, the objectives and functioning of the rare disease centers should become more visible. (2) Other projects dealing with the analysis and improvement of interface management between centers and primary care physicians, as described in the National Plan of Action for People with Rare Diseases, need to be implemented immediately. (3) If the project is evaluated positively, the structures of TRANSLATE-NAMSE should be introduced nationwide into the German health care system to ensure comprehensive, quality-assured care for people with rare diseases with special consideration of the key role of primary care physicians—also taking into account the financial expenditures of this new care model.

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 A methodology for a minimum data set for rare diseases to support national centers of excellence for healthcare and research

2014 ◽  
Vol 22 (1) ◽  
pp. 76-85 ◽  
Author(s):  
Rémy Choquet ◽  
Meriem Maaroufi ◽  
Albane de Carrara ◽  
Claude Messiaen ◽  
Emmanuel Luigi ◽  
...  
Keyword(s):  
Data Collection ◽  
Rare Disease ◽  
Rare Diseases ◽  
Care Coordination ◽  
Minimum Data Set ◽  
National Plan ◽  
Data Set ◽  
Common Data Elements ◽  
Minimum Data ◽  
Data Elements

Abstract Background Although rare disease patients make up approximately 6–8% of all patients in Europe, it is often difficult to find the necessary expertise for diagnosis and care and the patient numbers needed for rare disease research. The second French National Plan for Rare Diseases highlighted the necessity for better care coordination and epidemiology for rare diseases. A clinical data standard for normalization and exchange of rare disease patient data was proposed. The original methodology used to build the French national minimum data set (F-MDS-RD) common to the 131 expert rare disease centers is presented. Methods To encourage consensus at a national level for homogeneous data collection at the point of care for rare disease patients, we first identified four national expert groups. We reviewed the scientific literature for rare disease common data elements (CDEs) in order to build the first version of the F-MDS-RD. The French rare disease expert centers validated the data elements (DEs). The resulting F-MDS-RD was reviewed and approved by the National Plan Strategic Committee. It was then represented in an HL7 electronic format to maximize interoperability with electronic health records. Results The F-MDS-RD is composed of 58 DEs in six categories: patient, family history, encounter, condition, medication, and questionnaire. It is HL7 compatible and can use various ontologies for diagnosis or sign encoding. The F-MDS-RD was aligned with other CDE initiatives for rare diseases, thus facilitating potential interconnections between rare disease registries. Conclusions The French F-MDS-RD was defined through national consensus. It can foster better care coordination and facilitate determining rare disease patients’ eligibility for research studies, trials, or cohorts. Since other countries will need to develop their own standards for rare disease data collection, they might benefit from the methods presented here.

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