Within the challenging environment of rare disease research, understanding both the biological causes and natural progression of a condition is vital. Patient-reported outcomes and patient registries enable researchers, clinical teams and patients to collaborate to provide the insights and data required to provide a faster diagnosis, design care pathways and aid the development of new effective treatments with improved safety and tolerability profiles. The key to that collaboration is clear communication in patient-friendly language

PROs, PROMs and patient registries

A patient-reported outcome (PRO) is information directly reported by a patient about their quality of life, health, function or psychological well-being. Because it comes directly from patients, it is not interpreted by anybody else, such as a doctor or caregiver.

Patient-reported outcome measures (PROMs) are a tool used to measure a patient-reported outcome in a reliable and measurable way. For example, a PROM might take the form of a questionnaire designed to measure a patient’s quality of life. PROMs are usually used across different conditions, but they are sometimes specific to one.

The importance of patient-reported outcome measures

Patient-reported outcomes have increasing prominence in clinical trials and studies looking at reducing the burden of vasculitis. Listening to patient-reported outcomes should be a straightforward exercise in the case of a doctor having a one-to-one conversation with a patient. The challenge arises when researchers try to make sense of the combined outcomes reported by different patients in different ways. It is then that a disease-specific PROM becomes invaluable.

For patients with an ANCA associated vasculitis there is now a disease-specific PROM: AAV PRO¹. This measure consists of 29 questions grouped in six domains: organ specific symptoms, systemic symptoms, treatment side effects, social and emotional impact, concerns about the future and physical function. The benefit to patients lies within this wide scope: “Health is more than the absence of illness,” says Peter Verhoeven of Vasculitis International, “there’s a lot of other things in your life that define whether you’re healthy or not.”

As a disease-specific PROM, AAV PRO has the potential to enhance scientific research into vasculitis, and it will also work as a measure of quality of care. More immediately, for patients, it should facilitate better communication with healthcare professionals.

Convincing people of the value of filling in a questionnaire is sometimes a challenge, but talking through the six domains covered by AAV PRO opens the door to higher standards of care because it creates two-way communication with healthcare professionals—something patients have every right to insist upon. For Peter, “PROMs are a win-win: they will get you better treatment, for sure, but they will also advance research so that other patients get a better treatment too”.

Patients’ engagement in PROMs and registries

To be able to properly use PROs, the results have to be stored in a registry.

A patient registry is a collection of standardised data about a group of patients with a particular condition, collected for a particular purpose. Some of the purposes for registries include examining the natural history of disease, analysing the effectiveness and safety of treatments, and monitoring and improving quality of care.

“While contributing your data to a registry helps to improve outcomes for others in the future, it can also tell us more about the condition in the now, which may have a positive impact on individuals taking part,” says Zoi Anastasa of Vasculitis UK.

“When I think about participating in a research project, I don’t think about it as being something for me; I think about it as benefiting someone in 10 or maybe 20 years’ time. I think why should somebody suffer as much as I did? I think about how it may make somebody else’s future better. That’s what we should be aiming for: making the future better.”

Vasculitis UK and Vasculitis Ireland Awareness comprise the patient representation in the UK and Ireland for UKIVAS Vasculitis Registry. The purpose of UKIVAS is to answer important questions about disease causes, which patients are likely to relapse, what treatments work best and who might be able to reduce or stop treatments. “The small number of people with vasculitis and the fact not everyone will want to participate makes data collection challenging,” Zoi says. However, despite low patient numbers and a slow start to recruitment, there has been a growing positive response to the registry.

Good quality standardised data collection through registries can be transformative in rare disease research; however, one of the challenges in data collection in rare disease is low patient numbers. And for patients taking part, it isn’t always clear what the benefits will be. Zoi believes that “patient organisations have a responsibility for promoting the benefits of participating in research”.

The use of plain language to explain the purpose of research or a registry plays an important role in improving participation; including this within recruitment strategies is something Zoi feels passionately about. “It is important that people without a scientific background understand clearly what the purpose is, what is to be gained from taking part and what they are agreeing to.” She also believes that relevance to patients is paramount and hopes to see research focusing on well-being as well as survival, so that people with vasculitis can participate more fully in society.

“I would like to see PROs driving researchers’ decisions about what research is needed. These are critical because clinicians look at them to find out what’s working and what’s not working.”

The FAIRVASC project: linking vasculitis registries across Europe

Since one of the challenges of data collection in rare disease is low patient numbers, it is essential to combine the databases of patient registries of several countries to build a dataset of sufficient size to enable meaningful research.

FAIRVASC is a research project of the European Vasculitis Society (EUVAS) and RITA European Reference Network. It brings together leading scientists, clinicians and patient organisations, with the aim of gathering as much data as possible. By using semantic web technologies, it will link vasculitis registries across Europe into a single European dataset. It is hoped that this dataset will enable healthcare professionals to draw well-informed conclusions about treatments and possible cures from a larger quantity of data than ever before and open the door to new research pathways.

Zoi regards the developing FAIRVASC project as “very important for the future of research in vasculitis”.

Further information

For more information on the UKIVAS Vasculitis Registry, visit: vasculitis.org.uk/professionals/registry

For more information on the FAIRVASC project, visit: fairvasc.eu

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References

[1] Robson JC et al. Ann Rheum Dis. 2018 Aug;77(8):1157-1164.

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Disclaimer

The views and opinions expressed in this article are entirely those of the contributors and do not necessarily reflect the views and positions of Vifor Pharma.

UK-NA-2200082 / date of preparation : May 2022