Design of a framework for the deployment of collaborative independent rare disease-centric registries: Gaucher disease registry model

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.

Engineering Requirements of a Herpes Simplex Virus Patient Registry: Discovery Phase of a Real-World Evidence Platform to Advance Pharmacogenomics and Personalized Medicine

“…Server: Apache + CentOS, MondoDB and combines relational and non-relational data schemas. Bellgard et al developed the concept on the example of a registry for Gaucher disease which uses Registry Mark-up Language (RML) which illustrates security-focused architecture [29]. These registries utilise SSL and role-based permission access control.…”

“…Open source registry systems address standardisation and interoperability by using distributed searches to comply with data protection requirements and preserve data sovereignty. The security-focused architecture illustrated by the Gaucher registry [29] would be valuable to the application of the open-source framework to an HSV registry due to the sensitive nature of the data that would be collected. The emphasis on security could reassure patients and help to obtain high-quality data.…”

Research protocol: The initiation, design and establishment of the Global Angelman Syndrome Registry

“…The RDRF has since been used to deploy a number of national and international registries (Bellgard et al . ; Bellgard et al . ; Napier et al .…”

Comprehending the Health Informatics Spectrum: Grappling with System Entropy and Advancing Quality Clinical Research

“…So while some progress continues to be achieved in specific situations, the big breakthroughs can only be achieved through large-scale business model and process reform as driven by regulatory change. If these are not addressed, then, for example, emerging trends such as patient empowerment via the measured self (13), the Internet of things (5), and personalized medicine will only see these complexities exacerbated (14). …”

“…This becomes critical with the desire to simultaneously evaluate and optimize the effective and cost-effective use of new medications (3); (ii) in a systems biology context, clever strategies to combine disparate datasets at the gene, gene expression, protein as well as at a protein–protein interaction levels are essential to unlock underlying molecular mechanisms that affect routine clinical decisions (4); and (iii) in evidence-based medicine, encoding expert clinical knowledge into decision support systems and data standards for collecting diverse patient’s physiological measurements are critical to ensure effective cross jurisdictional data sharing for diseases (5). …”