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

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.

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Creating a global rare disease patient registry linked to a rare diseases biorepository database: Rare Disease-HUB (RD-HUB)

Contemporary Clinical Trials ◽

10.1016/j.cct.2010.06.007 ◽

2010 ◽

Vol 31 (5) ◽

pp. 394-404 ◽

Cited By ~ 57

Author(s):

Yaffa R. Rubinstein ◽

Stephen C. Groft ◽

Ronald Bartek ◽

Kyle Brown ◽

Ronald A. Christensen ◽

...

Keyword(s):

Rare Disease ◽

Rare Diseases ◽

Disease Patient ◽

Patient Registry ◽

Rare Disease Patient

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Linked Registries: Connecting Rare Diseases Patient Registries through a Semantic Web Layer

BioMed Research International ◽

10.1155/2017/8327980 ◽

2017 ◽

Vol 2017 ◽

pp. 1-13 ◽

Cited By ~ 6

Author(s):

Pedro Sernadela ◽

Lorena González-Castro ◽

Claudio Carta ◽

Eelke van der Horst ◽

Pedro Lopes ◽

...

Keyword(s):

Semantic Web ◽

Rare Disease ◽

Rare Diseases ◽

Disease Patient ◽

Data Representation ◽

Patient Registries ◽

Holistic View ◽

Specific Patient ◽

Semantic Layer ◽

Rare Disease Patient

Patient registries are an essential tool to increase current knowledge regarding rare diseases. Understanding these data is a vital step to improve patient treatments and to create the most adequate tools for personalized medicine. However, the growing number of disease-specific patient registries brings also new technical challenges. Usually, these systems are developed as closed data silos, with independent formats and models, lacking comprehensive mechanisms to enable data sharing. To tackle these challenges, we developed a Semantic Web based solution that allows connecting distributed and heterogeneous registries, enabling the federation of knowledge between multiple independent environments. This semantic layer creates a holistic view over a set of anonymised registries, supporting semantic data representation, integrated access, and querying. The implemented system gave us the opportunity to answer challenging questions across disperse rare disease patient registries. The interconnection between those registries using Semantic Web technologies benefits our final solution in a way that we can query single or multiple instances according to our needs. The outcome is a unique semantic layer, connecting miscellaneous registries and delivering a lightweight holistic perspective over the wealth of knowledge stemming from linked rare disease patient registries.

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

Acta Facultatis Pharmaceuticae Universitatis Comenianae ◽

10.2478/afpuc-2013-0001 ◽

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.

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Consensus on the criteria needed for creating a rare-disease patient registry. A Delphi study

Journal of Public Health ◽

10.1093/pubmed/fdv099 ◽

2015 ◽

Vol 38 (2) ◽

pp. e178-e186 ◽

Cited By ~ 6

Author(s):

Clara Cavero-Carbonell ◽

Elena Gras-Colomer ◽

Rosana Guaita-Calatrava ◽

Carmen López-Briones ◽

Rubén Amorós ◽

...

Keyword(s):

Rare Disease ◽

Delphi Study ◽

Disease Patient ◽

Patient Registry ◽

Rare Disease Patient

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Challenges in Building and Maintaining Rare Disease Patient Registries: Results of a Questionnaire Survey in Japan at 2012

10.1101/19004770 ◽

2019 ◽

Author(s):

Mizuki Morita ◽

Soichi Ogishima

Keyword(s):

Rare Diseases ◽

Financial Support ◽

Disease Patient ◽

The Internet ◽

Medical Doctors ◽

It Infrastructure ◽

Patient Registries ◽

Survey Results ◽

Rare Disease Patient ◽

Research Grant

AbstractBackgroundResearch infrastructure such as patient registries and biobanks is expected to play important roles by aggregating information and biospecimens to promote research and development for rare diseases. However, both building and maintaining them can be costly. This paper presents results of a survey of patient registries for rare diseases in Japan conducted at the end of 2012, with emphasis on clarifying costs and efforts related to building and maintaining them.ResultsOf 31 patient registries in Japan found by searching a database of research grant reports and by searching the internet, 11 returned valid responses to this survey. Results show that labor and IT system costs are major expenses for developing and maintaining patient registries. Half of the respondent patient registries had no prospect of securing a budget to maintain them. Responders required the following support for patient registries: financial support, motivation of registrants (medical doctors or patients), and improved communication with and visibility to potential data users. These results resemble those reported from another survey conducted almost simultaneously in Europe (EPIRARE survey).ConclusionsSurvey results imply that costs and efforts to build and maintain patient registries for many rare diseases make them unrealistic. Some alternative strategy is necessary to reduce burdens, such as offering a platform that supplies IT infrastructure and basic secretariat functions that can be used commonly among many patient registries.

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

Orphanet Journal of Rare Diseases ◽

10.1186/s13023-021-02106-7 ◽

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.

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