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Building a rare disease patient registry

On 17th September, Findacure ran a workshop in London entitled ‘Building a rare disease patient registry’. The event was comprised of talks about registries from a range of stakeholders across the rare disease field, including people working in industry and rare disease patients themselves who have gained expertise in the area.

Topics covered the basics of establishing a registry such as ‘what is a registry?’ and ‘what is its purpose?’, as well as more complex questions such as ‘what are the implications of GDPR on patient registries?’ Registries are a subject which many people in the community want to get to grips with, as the incentives of establishing a registry for a particular rare disease are numerous, yet also feel perplexed by. An obstacle many people face is that there is not enough transparency and easily-digestible information out there about registries, particularly from their clinicians. This workshop tried to address this demand after the topic of registries came out top in a poll we conducted via social media.

The aim of our workshops is to enable patient groups to professionalise their work and develop their skills and knowledge which will in turn benefit rare disease patients themselves. Patient groups provide crucial support to their communities and many are run by people with rare diseases and their loved ones with limited funds. We recognise the important role they play in the lives of those with rare diseases and strive to give them the necessary tools to continue their work.


Con Hennessy, Managing Director, OpenAPP

Con led the audience chronologically through the steps patient groups should take to building their own rare disease patient registry. The first principle of putting together a patient registry, according to Con, is to outline one’s vision. It is only once a clear vision has been established that any notion of putting together a rare disease patient registry can become realistic. From this the next steps can be undertaken, from identifying potential stakeholders’ needs all the way up to growing into a clinical registry. The initial steps act as a springboard to providing people with the confidence to make the later steps which may seem daunting at first. As knowledge and engagement with the community are strengthened, it is then that educational grants are offered.

Neil Bennett, Head of Research, Action Duchenne

Neil discussed the intricacies of the DMD registry, which was set up in 2006 by a parent of a child with Duchenne Muscular Dystrophy, and has since evolved. Their web-based, patient-input model started out with clinicians filling it in, but the clinicians simply did not have the time to dedicate to this. ‘The gene mutation  doesn’t go through any middle man and that’s the fundamental strength of our register. Our genetic data is probably than any other [registry] in the UK’, says Neil. Action Duchenne found that their community were happy to participate in multiple patient registries to give the best chance of moving research forward.


Pete Chan, Head of Research and Analysis, RareMark

RareMark is a health technology company focussing on building ‘patient-powered’ research networks empowering patients and families and ultimately producing real world patient data. One of the motivations for RareMark’s work is to find out what motivates people to take part in quality of life studies. Giving people an insight into how their quality of life might change might ‘lead to a better, more helpful conversation with their doctors in the future’.

Sally Jeans, RUDY Participant

Standing for the ‘Rare Undiagnosed Disease Study’, RUDY is a patient registry for any disease that affects fewer than one in two thousand people and uses data input only by patients. The aim of the study is to improve patient and public engagement in research. All patient data can be available for them anywhere as long as they have an internet connection.


Building a rare disease patient registry

by Mary Rose Roberts time to read: 5 min