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

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.

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

2017 ◽  
Vol 2017 ◽  
pp. 1-13 ◽  
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.

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

2010 ◽  
Vol 31 (5) ◽  
pp. 394-404 ◽  
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

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

2015 ◽  
Vol 38 (2) ◽  
pp. e178-e186 ◽  
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

Identifying New Directions for African Studies: Methodology Report and Survey Results

2002 ◽  
Vol 30 (2) ◽  
pp. 76-88
Author(s):  
Larry W. Bowman ◽  
Diana T. Cohen
Keyword(s):  
United States ◽  
Graduate Students ◽  
The United States ◽  
African Studies ◽  
The Internet ◽  
Coverage Error ◽  
New Directions ◽  
Survey Results

The sample frame was constructed over several months through the combined efforts of three graduate students and Prof. Larry W. Bowman. Using the Internet whenever possible, and backed by the assistance of colleagues from many institutions, we constructed a sample frame of 1,793 U.S.-based Africanists. Our sample frame includes 46 percent more Africanists than the 1,229 individual U.S. members of the African Studies Association (ASA) in 2001 (1,112 individual members and 117 lifetime members). In all cases we allowed institutions to self-define who they considered their African studies faculty to be. By assembling this broad sample frame of African studies faculty, we probe more deeply into the national world of African studies than can be done even through a membership survey of our largest and most established national African studies organization. The sample frame for this study approximates a full enumeration of the Africanist population in the United States. Therefore, data collected from samples drawn from this frame can with some confidence be generalized to all Africanists in the United States, with minimal coverage error.

402 The challenge of medical information on the internet: The experiences of Orphanet dedicated to the rare diseases and orphan drugs

1999 ◽  
Vol 3 (6) ◽  
pp. A56
Author(s):  
S. Aymé ◽  
D. Oziel ◽  
B. Urbero ◽  
E. Lecouturier ◽  
F. Reboul-Salze ◽  
...  
Keyword(s):  
Rare Diseases ◽  
Medical Information ◽  
Orphan Drugs ◽  
The Internet
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