title: 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.
authors.affiliation: Centre for Comparative Genomics, Murdoch University, Murdoch, Western Australia, Australia; Western Australian Neuroscience Research Institute, Nedlands, Western Australia, Australia; Convenor of the Australian Bioinformatics Facility, Bioplatforms Australia, Macquarie University, North Ryde, New South Wales, Australia. Electronic address: mbellgard@ccg.murdoch.edu.au.
authors.forename: Matthew I
authors.initials: MI
authors.lastname: Bellgard
authors.affiliation: Centre for Comparative Genomics, Murdoch University, Murdoch, Western Australia, Australia. Electronic address: knapier@ccg.murdoch.edu.au.
authors.forename: Kathryn R
authors.initials: KR
authors.lastname: Napier
authors.affiliation: Centre for Comparative Genomics, Murdoch University, Murdoch, Western Australia, Australia; School of Medical and Health Sciences, Edith Cowan University, Joondalup, Western Australia, Australia. Electronic address: abittles@ccg.murdoch.edu.au.
authors.forename: Alan H
authors.initials: AH
authors.lastname: Bittles
authors.affiliation: Clinical Haematology and Bone Marrow Transplant Service, Royal Melbourne Hospital, Parkville, Victoria, Australia. Electronic address: Jeff.Szer@mh.org.au.
authors.forename: Jeffrey
authors.initials: J
authors.lastname: Szer
authors.affiliation: Centre for Comparative Genomics, Murdoch University, Murdoch, Western Australia, Australia; Western Australian Neuroscience Research Institute, Nedlands, Western Australia, Australia. Electronic address: sfletcher@ccg.murdoch.edu.au.
authors.forename: Sue
authors.initials: S
authors.lastname: Fletcher
authors.affiliation: Centre for Comparative Genomics, Murdoch University, Murdoch, Western Australia, Australia. Electronic address: nzeps@ccg.murdoch.edu.au.
authors.forename: Nikolajs
authors.initials: N
authors.lastname: Zeps
authors.affiliation: Centre for Comparative Genomics, Murdoch University, Murdoch, Western Australia, Australia. Electronic address: ahunter@ccg.murdoch.edu.au.
authors.forename: Adam A
authors.initials: AA
authors.lastname: Hunter
authors.affiliation: Genetic Services & Familial Cancer Program of Western Australia, King Edward Memorial Hospital, Subiaco, Western Australia, Australia. Electronic address: Jack.Goldblatt@health.wa.gov.au.
authors.forename: Jack
authors.initials: J
authors.lastname: Goldblatt
mesh_terms: D005776:Gaucher Disease / Q000453:epidemiology*; D006801:Humans; D020407:Internet; D035583:Rare Diseases / Q000453:epidemiology*; D012042:Registries; D057386:Search Engine; D012984:Software
keywords: Gaucher disease; Independent Rare Disease Registry; Open source; Post-market surveillance; Rare Disease Registry Framework; Web-based