scholarly journals Using Patient Registries to Identify Triggers of Rare Diseases

2018 ◽  
Author(s):  
Feras M. Ghazawi ◽  
Steven J. Glassman ◽  
Denis Sasseville ◽  
Ivan V. Litvinov
Keyword(s):  
Rare Diseases ◽  
Patient Registries

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.

The importance of patient registries for rare diseases

2013 ◽  
Vol 1 (10) ◽  
pp. 769-772 ◽  
Author(s):  
Ana Maria Martins ◽  
Sandra Obikawa Kyosen
Keyword(s):  
Rare Diseases ◽  
Patient Registries

scholarly journals RARE DISEASE REGISTRIES- PURPOSE, CHALLENGES & SOLUTIONS

2021 ◽  
Vol 9 (01) ◽  
pp. 1074-1078
Author(s):  
Maria Aziz ◽  
◽  
Azma J. Khan ◽  
Sefia Khan ◽  
◽  
...  
Keyword(s):  
Rare Diseases ◽  
Correct Diagnosis ◽  
The United States ◽  
Underlying Disease ◽  
The European Union ◽  
Patient Registries ◽  
Clinical Endpoints ◽  
Data Registry ◽  
Comprehensive Knowledge ◽  
Low Prevalence

Rare diseases are defined, as any condition or disease having a low prevalence in the United States and the European Union. There is a scarcity of relevant knowledge and experience with rare diseases due to an incomplete understanding of the underlying disease mechanisms, relevant clinical endpoints, lack of correct diagnosis in the population. These challenges create a unique need for cooperation and infrastructure. Data registry is a critical tool in building a comprehensive knowledge base for these rare diseases. Our paper will provide the overview of patient registries for rare diseases, current use, limitations, challenges and proposed plan for improvement.

scholarly journals Enabling External Inquiries to an Existing Patient Registry by Using the Open Source Registry System for Rare Diseases: Demonstration of the System Using the European Society for Immunodeficiencies Registry (Preprint)

2019 ◽  
Author(s):  
Raphael Scheible ◽  
Dennis Kadioglu ◽  
Stephan Ehl ◽  
Marco Blum ◽  
Martin Boeker ◽  
...  
Keyword(s):  
Open Source ◽  
Rare Diseases ◽  
Open Source Software ◽  
European Society ◽  
Patient Registries ◽  
Patient Organizations ◽  
Registry System ◽  
Decentralized Search ◽  
Custom Software ◽  
Set Up

BACKGROUND The German Network on Primary Immunodeficiency Diseases (PID-NET) utilizes the European Society for Immunodeficiencies (ESID) registry as a platform for collecting data. In the context of PID-NET data, we show how registries based on custom software can be made interoperable for better collaborative access to precollected data. The Open Source Registry System for Rare Diseases (<i>Open-Source-Registersystem für Seltene Erkrankungen</i> [OSSE], in German) provides patient organizations, physicians, scientists, and other parties with open source software for the creation of patient registries. In addition, the necessary interoperability between different registries based on the OSSE, as well as existing registries, is supported, which allows those registries to be confederated at both the national and international levels. OBJECTIVE Data from the PID-NET registry should be made available in an interoperable manner without losing data sovereignty by extending the existing custom software of the registry using the OSSE registry framework. METHODS This paper describes the following: (1) the installation and configuration of the OSSE bridgehead, (2) an approach using a free toolchain to set up the required interfaces to connect a registry with the OSSE bridgehead, and (3) the decentralized search, which allows the formulation of inquiries that are sent to a selected set of registries of interest. RESULTS PID-NET uses the established and highly customized ESID registry software. By setting up a so-called OSSE bridgehead, PID-NET data are made interoperable according to a federated approach, and centrally formulated inquiries for data can be received. As the first registry to use the OSSE bridgehead, the authors introduce an approach using a free toolchain to efficiently implement and maintain the required interfaces. Finally, to test and demonstrate the system, two inquiries are realized using the graphical query builder. By establishing and interconnecting an OSSE bridgehead with the underlying ESID registry, confederated queries for data can be received and, if desired, the inquirer can be contacted to further discuss any requirements for cooperation. CONCLUSIONS The OSSE offers an infrastructure that provides the possibility of more collaborative and transparent research. The decentralized search functionality includes registries into one search application while still maintaining data sovereignty. The OSSE bridgehead enables any registry software to be integrated into the OSSE network. The proposed toolchain to set up the required interfaces consists of freely available software components that are well documented. The use of the decentralized search is uncomplicated to use and offers a well-structured, yet still improvable, graphical user interface to formulate queries.

scholarly journals Establishing Patient Registries for Rare Diseases: Rationale and Challenges

2020 ◽  
Vol 34 (3) ◽  
pp. 185-190 ◽  
Author(s):  
Vanessa Boulanger ◽  
Marissa Schlemmer ◽  
Suzanne Rossov ◽  
Allison Seebald ◽  
Pamela Gavin
Keyword(s):  
Rare Diseases ◽  
Patient Registries

scholarly journals Artificial Intelligence (AI) in Rare Diseases: Is the Future Brighter?

Genes ◽  
2019 ◽  
Vol 10 (12) ◽  
pp. 978 ◽  
Author(s):  
Sandra Brasil ◽  
Carlota Pascoal ◽  
Rita Francisco ◽  
Vanessa dos Reis Ferreira ◽  
Paula A. Videira ◽  
...  
Keyword(s):  
Artificial Intelligence ◽  
Rare Diseases ◽  
Basic Research ◽  
Great Promise ◽  
Congenital Disorders Of Glycosylation ◽  
Patient Registries ◽  
Number Of Patients ◽  
Geographical Dispersion ◽  
Different Sources ◽  
Analyze Data

The amount of data collected and managed in (bio)medicine is ever-increasing. Thus, there is a need to rapidly and efficiently collect, analyze, and characterize all this information. Artificial intelligence (AI), with an emphasis on deep learning, holds great promise in this area and is already being successfully applied to basic research, diagnosis, drug discovery, and clinical trials. Rare diseases (RDs), which are severely underrepresented in basic and clinical research, can particularly benefit from AI technologies. Of the more than 7000 RDs described worldwide, only 5% have a treatment. The ability of AI technologies to integrate and analyze data from different sources (e.g., multi-omics, patient registries, and so on) can be used to overcome RDs’ challenges (e.g., low diagnostic rates, reduced number of patients, geographical dispersion, and so on). Ultimately, RDs’ AI-mediated knowledge could significantly boost therapy development. Presently, there are AI approaches being used in RDs and this review aims to collect and summarize these advances. A section dedicated to congenital disorders of glycosylation (CDG), a particular group of orphan RDs that can serve as a potential study model for other common diseases and RDs, has also been included.

scholarly journals Importance and Benefits of Patient Registries for Duchenne Muscular Dystrophy

2015 ◽  
Vol 10 (01) ◽  
pp. 79
Author(s):  
Olivia Schreiber-Katz ◽  
Keyword(s):  
Duchenne Muscular Dystrophy ◽  
Muscular Dystrophy ◽  
Patient Care ◽  
Rare Diseases ◽  
Public Awareness ◽  
Childhood Onset ◽  
Patient Registries ◽  
New Therapies ◽  
Special Challenge ◽  
Data Harmonisation

Rare diseases represent a special challenge for the translation of new therapies into patient care. Duchenne muscular dystrophy (DMD) is a rare childhood-onset muscular dystrophy; curative treatment is not yet available. However, new therapies are emerging to fight this devastating disease. In order to establish an infrastructure to improve data harmonisation, knowledge on the disease, public awareness, industrial interest and trial readiness, patient registries are an indispensable resource. This article provides a short overview on their importance and benefits towards improving diagnosis and care.

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