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Orphanet Journal of Rare Diseases
Published in: Orphanet Journal of Rare Diseases 1/2016

Open Access 01-12-2016 | Research

The involvement of patient organisations in rare disease research: a mixed methods study in Australia

Authors: Deirdre Pinto, Dominique Martin, Richard Chenhall

Published in: Orphanet Journal of Rare Diseases | Issue 1/2016

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Abstract

Background

We report here selected findings from a mixed-methods study investigating the role of Australian rare disease patient organisations (RDPOs) in research. Despite there being many examples of RDPOs that have initiated and supported significant scientific advances, there is little information – and none at all in Australia – about RDPOs generally, and their research-related goals, activities, and experiences. This information is a pre-requisite for understanding what RDPOs bring to research and how their involvement could be strengthened.

Methods

We reviewed 112 RDPO websites, conducted an online survey completed by 61 organisational leaders, and interviewed ten leaders and two key informants. Quantitative and qualitative data were analysed using basic descriptive statistics and content analysis, respectively.

Results

Although most are small volunteer-based groups, more than 90 % of the surveyed RDPOs had a goal to promote or support research on the diseases affecting their members. Nearly all (95 %) had undertaken at least one research-related activity – such as providing funding or other support to researchers – in the previous five years. However, RDPO leaders reported considerable challenges in meeting their research goals. Difficulties most frequently identified were insufficient RDPO resources, and a perceived lack of researchers interested in studying their diseases. Other concerns included inadequate RDPO expertise in governing research “investments”, and difficulty engaging researchers in the organisation’s knowledge and ideas. We discuss these perceived challenges in the light of two systemic issues: the proliferation of and lack of collaboration between RDPOs, and the lack of specific governmental policies and resources supporting rare disease research and patient advocacy in Australia.

Conclusion

This study provides unique information about the experiences of RDPOs generally, rather than experiences retrospectively reported by RDPOs associated with successful research. We describe RDPOs’ valuable contributions to research, while also providing insights into the difficulties for small organisations trying to promote research. The study is relevant internationally because of what it tells us about RDPOs; however, we draw attention to specific opportunities in Australia to support RDPOs’ involvement in research, for the benefit of current and future generations affected by rare diseases.
Footnotes
1
While the Australian Therapeutic Goods Authority considers a rare disease to be a condition, syndrome or disorder that affects 1 in 10,000 people or less, there is a strong push from Australian rare disease advocates for a nationally consistent definition aligned with the European Union (EU) definition, which refers to an estimated prevalence of less than 5 in 10,000 (1 in 2000). Our study uses the EU definition.
 
2
Because six survey respondents chose not to identify themselves, there was a small chance that an RDPO classified as a “non-responder” had in fact participated in the survey.
 
3
Estimate based on website information. The survey asked about the number of paid staff, but did not distinguish between paid leaders and paid staff performing other roles (for example, such administration or fundraising). The estimate includes survey respondents from separate state branches of large federated RDPOs, with paid leaders in each state as well as a paid national leader.
 
4
Including the four respondents who had no research or research advocacy goals, and who were therefore not asked the question.
 
5
It is not possible to check the accuracy of participants’ perception that rare diseases as a group are under-funded in Australian research expenditure, as the Government’s main research funding body, the National Health and Medical Research Council, does not provide data on allocations to rare disease research.
 
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Metadata
Title
The involvement of patient organisations in rare disease research: a mixed methods study in Australia
Authors
Deirdre Pinto
Dominique Martin
Richard Chenhall
Publication date
01-12-2016
Publisher
BioMed Central
Published in
Orphanet Journal of Rare Diseases / Issue 1/2016
Electronic ISSN: 1750-1172
DOI
https://doi.org/10.1186/s13023-016-0382-6

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