An online consensus-building study to agree on key policy measures for assessing whether the England Rare Diseases Action Plans (developed by the Department of Health and Social Care) are effective

Plain English Summary

Background and study aims
In the UK, a rare disease is defined as one affecting fewer than one in 2,000 people, with over 7,000 rare diseases affecting over 3.5 million people. These diseases often have limited research, delayed diagnoses, and fragmented care. To improve care, the Department of Health and Social Care (DHSC) introduced the UK Rare Diseases Strategy in 2013, later updated in 2021 with the UK Rare Diseases Framework. The Framework has four priorities: faster diagnosis, increased awareness among health professionals, better coordination of care, and improved access to treatments and drugs.
The England Rare Diseases Action Plans implement the Framework. To assess their impact, clear measures are needed to see how well policies are working and help identify areas for improvement. This is where the eDelphi study comes in. A two-round online Delphi study will be conducted to identify and agree on key measures for evaluating the effectiveness of the Action Plans. The eDelphi method was chosen because it allows participants to remain anonymous, encouraging open and honest opinions.
The study will gather expert opinions to identify and prioritise measures for evaluating the success of the plans (including their validity, reliability, clarity, and how feasible it is to collect the necessary data). The study is part of a larger research programme, RareCare, which aims to design effective measures for evaluating the England Rare Diseases Action Plans and improving time to diagnosis for people living with rare disease. The study's findings will help policymakers track progress and improve outcomes for people with rare diseases.

Who can participate?
This study aims to recruit 50 individuals living with rare diseases or caring for someone with one and 50 people working in the rare disease field (paid or unpaid). By including people with lived experience, the study helps to ensure the measures chosen for evaluating rare disease policies reflect the real-world impact.
For participants with lived experience of a rare disease, the study will work with patient advocacy groups and aim to gather a diverse sample. The sample will comprise people with various rare diseases, varying ages, different stages of the patient journey, genetic and non-genetic conditions, while also including underrepresented groups. This diversity will help guarantee that the chosen measures are relevant to the broader rare disease community.
People working or volunteering in the rare disease field will be recruited based on their expertise and knowledge in healthcare policy, the rare disease sector, or relevant aspects of the healthcare system. They will include representatives from NHS management (national and regional commissioning), healthcare professionals, industry, education, patient advocacy groups, the broader health and care system, and the data and research sectors. A careful selection process will create diversity in geographic locations and expertise.
Eligible participants must have rare disease experience based in England, be 16 or older, have no financial conflicts of interest, be able to read and write in English, and have internet access.

What does the study involve?
The study will use a two-round eDelphi method to review and agree on the best ways to measure how well the England Rare Diseases Action Plans are working. The researchers carefully chose which potential measures would be included for rating in the Round 1 questionnaire.
First, five experts checked and rated different measures compiled by government to monitor rare disease care. They looked at how clear these were, whether they could show real change, and how they might affect health inequalities. At the same time, researchers searched scientific studies and databases to find more potential measures that fit rare disease priorities. After reviewing all the information, potential measures were shortlisted for inclusion.
In the first eDelphi round, these measures will be grouped into the four Priority Areas listed above. Participants will be asked to rate shortlisted possible measures on a scale of one to nine, indicating their perceived value, and can also suggest additional measures. They will also be asked for personal information, such as demographics (age, gender, ethnicity, etc.), and experience with rare diseases (time since diagnosis, main field of work, etc). This information will help in describing the diversity and experiences of the study participants.
The answers from the first round will be analysed by determining whether the participants agree with each other. In the second round, participants will review the Round 1 results, compare their responses with the group consensus, and adjust their ratings if needed. After two rounds, a final set of policy measures will be selected. Any discrepancies in Round 2 ratings will be explored through follow-up research.

What are the possible benefits and risks of participating?
By taking part, participants could help to improve healthcare for people with rare diseases and support better government monitoring. There are no significant risks associated with taking part, but thinking about personal experiences with rare diseases may bring up difficult emotions for some people. There will be information and advice on how to contact support agencies at the end of both questionnaires.

Where is the study run from?
Coventry University leads on the study design, delivery, and data analysis. The study is being run in partnership with Consilium Scientific and Realise Advocacy Ltd.

When is the study starting and how long is it expected to run for?
The two rounds of the eDelphi study are expected to run from March to June 2025 (approximately). Once a participant provides their consent, they can access the questionnaire. Each round will be open for at least 2 weeks, and if response rates are low, we will extend this by a week. Up to three reminders will be sent to participants who have not completed the questionnaire.
The data analysis for Round 1 and preparation of feedback and questions for the next round (including possible rephrasing or refining of the candidate measures and adding those newly suggested) is estimated to take 3 weeks. Once completed, the second-round questionnaires will be made available to those participants who consented to participate in the second round.

Who is funding the study?
The National Institute for Health and Care Research (NIHR) funds this independent research [RareCare, NIHR205983]. The views expressed in this publication are those of the research team and not necessarily those of NIHR or The Department of Health and Social Care.

Who is the main contact?
Prof. Petra Wark, petra.wark@coventry.ac.uk

Study website

Contact information

Prof Petra Wark
Scientific, Principal Investigator

Coventry University
Centre for Healthcare and Communities
Richard Crossman
Priory Street
Coventry
CV1 5FB
United Kingdom

ORCID ID	0000-0003-1020-4640
Email	petra.wark@coventry.ac.uk

Dr Aimee Walker-Clarke
Public

Coventry University
Centre for Healthcare and Communities
Richard Crossman
Priory Street
Coventry
CV1 5FB
United Kingdom

ORCID ID	0000-0002-9612-2074
Email	aimee.walker-clarke@coventry.ac.uk

Study information

Eligibility

Locations

Countries of recruitment

• England
• United Kingdom

Study participating centres

Sponsor information

Coventry University
University/education

Senior Research Management Group
Priory Street
Coventry
CV1 5FB
England
United Kingdom

Phone	+44 (0)24 7765 7688
Email	nigel.berkeley@coventry.ac.uk
Website	http://www.coventry.ac.uk/
"ROR"	https://ror.org/01tgmhj36

Funders

Funder type

Government

Results and Publications

Editorial Notes

17/03/2025: Study's existence confirmed by the NIHR.