Rare disease registries: a call to action

Abstract

When registries collect accurate clinical data over time, they can act as fundamental support structures for patients and their families and powerful cost-effective instruments to support clinical trials and translational research to improve quality of care, quality of life and survival. Registries are critical for rare diseases (RD) with low prevalence and propensity for variation in treatment and outcomes. Rare Voices Australia is leading a call for action to the research and clinical community to prioritise RD data collection and develop an integrated RD Registry strategy for Australia. Financial, operational and governance challenges exist for establishing and maintaining RD registries. As a multidisciplinary team whose interests converge on RD, we highlight the need for the establishment of an Australian RD Registry Alliance. This 'umbrella' organisation will: (i) bring together existing RD registries across Australia; (ii) establish National RD Registry Standards to support interoperability and cohesion across registries; (iii) develop strategies to attract sustainable funding from government and other sources to maximise the utility of existing RD registries and support the development of new RD registries. The most important role for the Alliance would be to use the RD registries for translational research to address current knowledge gaps about RD and to improve the care for the over 1.4 million Australians estimated to live with RD.

Assessment of the Timing of Milestone Clinical Events in Patients With Epidermolysis Bullosa From North America

“…Although electronic health record data are increasingly available to collect and analyze, clinical registries and databases remain relevant and important to enable the identification of affected patients or children with rarer disease processes. 20,21 Although International Statistical Classification of Diseases and Related Health Problems, Tenth Edition includes a code for EB (Q81) and some subtype-specific subcodes, International Classification of Diseases, Ninth Revision did not have a specific code for EB, making analysis of large administrative and clinical databases, such as outpatient Medicaid or inpatient Pediatric Hospital Information System databases difficult. To improve our knowledge of longer-term outcomes in patients with all types of EB, enrollment of patients, including those with milder forms of EB, will be critical.…”

Eight years after an international workshop on myotonic dystrophy patient registries: case study of a global collaboration for a rare disease

“…Patient registries are dependent on the availability of resources (human and technology), standards of care and research and specific regulatory bodies or criteria [1, 4, 26]. However, this report can be considered a rare disease case-study about the success of collaborating at a global level and the importance of establishing a set of data considered essential for a disease-specific patient registry.…”

“…Patient Registries have the different objectives that include: [1] improve the understanding of the prevalence, natural history, pathogenesis, and treatment options of diseases in recognition by a systematic collection of clinical and demographic data; [2] set up an infrastructure that allows collaboration between patients, health and care providers, academia (research) and industry; and, [3] obtain a picture of the targeted cohort’s real-life disease burden, standards of care and patient’s preferences towards treatment [1–3]. …”

“…In rare diseases such as Myotonic Dystrophy (DM), Disease-specific Patient Registries have been recognised as indispensable tools to translate clinical and research knowledge into therapeutic solutions [1, 4–6]. DM is a genetically caused neuromuscular condition estimated to affect 10 per 100,000 people in European populations [7, 8].…”

Optimism, opportunities, outcomes: the Australian Cystic Fibrosis Data Registry

“…In August 2017, the Commonwealth's Medical Research Future Fund put out a call for expressions of interest for its $13 million Lifting clinical trials and registries Program, which seeks to fund clinical trials in relation to rare cancers and diseases. The call supported ‘applications using existing established clinical registries’; however, other than the ACFDR such registries are currently limited in Australia due largely to lack of sustainable public funding …”