ArticleBlood cells, molecules & diseases2018
Design of a framework for the deployment of collaborative independent rare disease-centric registries: Gaucher disease registry model.
Article in Blood cells, molecules & diseases, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
13 citing papers in PubMed.
- The Economics of Drug Development: A Comparison between Orphan and Non-orphan Drugs.Current drug discovery technologies · 2026Article
- Scoping review of the recommendations and guidance for improving the quality of rare disease registries.Orphanet journal of rare diseases · 2024Article
- Does the registry speak your language? A case study of the Global Angelman Syndrome Registry.Orphanet journal of rare diseases · 2023Article
- Current state of rare disease registries and databases in Australia: a scoping review.Orphanet journal of rare diseases · 2023Article
- Literature Review on Health Emigration in Rare Diseases-A Machine Learning Perspective.International journal of environmental research and public health · 2023Review
- Registries for orphan drugs: generating evidence or marketing tools?Orphanet journal of rare diseases · 2020Article
- Article
- RD-RAP: beyond rare disease patient registries, devising a comprehensive data and analytic framework.Orphanet journal of rare diseases · 2019Article
- National information system for rare diseases with an approach to data architecture: A systematic review.Intractable & rare diseases research · 2018Review
- MGUS, lymphoplasmacytic malignancies, and Gaucher disease: the significance of the clinical association.Blood · 2018Article
- Phenotype Detection Registry System (PheDRS) - Implementation of a Generalizable Single Institution Clinical Registry Architecture.AMIA ... Annual Symposium proceedings. AMIA Symposium · 2018Article
- A web-based, patient driven registry for Angelman syndrome: the global Angelman syndrome registry.Orphanet journal of rare diseases · 2017Article
- Comprehending the Health Informatics Spectrum: Grappling with System Entropy and Advancing Quality Clinical Research.Frontiers in public health · 2017Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
8 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Orphan drug clinical trials often are adversely affected by a lack of high quality treatment efficacy data that can be reliably compared across large patient cohorts derived from multiple governmental and country jurisdictions. It is critical that these patient data be captured with limited corporate involvement. For some time, there have been calls to develop collaborative, non-proprietary, patient-centric registries for post-market surveillance of aspects related to orphan drug efficacy. There is an urgent need for the development and sustainable deployment of these 'independent' registries that can capture comprehensive clinical, genetic and therapeutic information on patients with rare diseases. We therefore extended an open-source registry platform, the Rare Disease Registry Framework (RDRF) to establish an Independent Rare Disease Registry (IRDR). We engaged with an established rare disease community for Gaucher disease to determine system requirements, methods of data capture, consent, and reporting. A non-proprietary IRDR model is presented that can serve as autonomous data repository, but more importantly ensures that the relevant data can be made available to appropriate stakeholders in a secure, timely and efficient manner to improve clinical decision-making and the lives of those with a rare disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.