CompletedObservational

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

This online study is looking for people in England who have a rare disease or care for someone with one, as well as experts in the field. The goal is to agree on the best ways to measure how well England's Rare Diseases Action Plans are working. These plans aim to speed up diagnoses, improve care, and increase access to treatments for conditions affecting fewer than 1 in 2,000 people. By gathering opinions in an anonymous online survey, the study hopes to create clear ways to see if the plans are making a real difference. Your input could help improve care for millions of people living with rare diseases across the country.

At a glance

Status

Completed

Sponsor

Coventry University

Enrolment target

100

Start

25 Mar 2025

Estimated completion

20 Apr 2025

Any rare disease

What is this study about?

Imagine you have a rare disease, a condition that affects only a small number of people. Often, it can be hard to get a diagnosis, treatment, and the right support. To help with this, the government has created special plans called the England Rare Diseases Action Plans. These plans have specific goals: to get people diagnosed faster, make sure doctors understand rare diseases better, improve how care is organised, and help people get the medicines they need. This study wants to find the best ways to check if these plans are actually making things better.

Think of it like this: if you're trying a new recipe, you need a way to tell if it tastes good, right? This study is doing something similar for rare disease care. It's asking people with personal experience of rare diseases and those who work in healthcare to help decide which 'measuring sticks' are most important. These 'measuring sticks' will show whether the government's actions are helping people and where things might need to improve. Your ideas are really important because they make sure the measures chosen reflect what matters most to those living with these conditions.

Ultimately, the information gathered from this study will help policymakers understand what's working well and what isn't. This means they can make changes to the Action Plans, so that care for everyone with a rare disease in England can get better. It's like helping to guide the recipe to make sure the final meal is truly delicious and beneficial for everyone.

Key takeaways

Help shape how rare disease care is measured in England.
Share your experiences online, from home.
Your answers are anonymous and help improve government plans.
Open to people with rare diseases and healthcare experts in England.
A two-part online questionnaire, expected to run from March to June 2025.

Who may be eligible?

This study is looking for two main groups of people to take part. First, they need about 50 individuals who are personally affected by a rare disease in England, either because they have one themselves or they care for someone who does. This ensures that real-life experiences are part of the decision-making.

Second, they also need around 50 experts who work or volunteer in the rare disease field in England. This includes anyone from healthcare professionals and NHS staff to people who work for charities, in research, or with medicines companies. They want people with different types of knowledge and from different parts of the country to get a wide range of expert views.

To join, you must be at least 16 years old, live in England, be able to read and write in English, and have access to the internet. It's important that you don't have any financial reasons that might affect your opinion on how the plans are being assessed.

Could this study suit you?

Answer these quick questions to see if you may be eligible. This is a guide only — the research team makes the final call.

Are you 16 years old or older?
Do you live in England?
Do you have a rare disease, or do you care for someone with one, OR do you work/volunteer in the rare disease field?
Can you read and write in English?
Do you have access to the internet?
Do you have any financial conflicts of interest related to assessing these plans?

Answer every question to see your result.

What does participation involve?

If you decide to take part, you'll be asked to complete two online questionnaires. These questionnaires will ask you to rate different ideas about how to measure the success of the rare disease plans. You can also suggest your own ideas.

The first questionnaire will be open for at least two weeks, and you'll receive reminders if you haven't completed it. After everyone has responded to the first round and the researchers have looked at the answers, there will be a second questionnaire. In this second round, you'll see how your early responses compared to the group's overall views, and you'll have a chance to change your ratings if you want. Each round takes time to complete, but you can do it from home at your own pace.

Potential risks and benefits

By participating in this study, you could help make a real difference in how rare diseases are managed in England, leading to better care and support for people like you or those you care for. There aren't many risks involved, as it's an online survey. However, thinking about your experiences with rare diseases might bring up difficult feelings for some people. If this happens, information and advice about support services will be provided at the end of both questionnaires. You are completely free to stop participating at any time.

Locations (7)

Some site locations are approximate. We're improving this — please verify with the trial team before travelling.

Consilium Scientific
City only
London, United Kingdom
Alstrom Syndrome UK
City only
Torquay, United Kingdom
Beacon: for rare diseases
City only
Cambridge, United Kingdom
Cambridge Rare Disease Network
City only
Cambridge, United Kingdom
Genetic Alliance UK Limited
City only
Bristol, United Kingdom
Metabolic Support UK
Unverified
Manchester, United Kingdom
NRG Collective Limited [RARE Revolution]
Unverified
Ashford, Kent, United Kingdom

Common questions

What is a 'rare disease'?

A rare disease is a health condition that affects fewer than 1 in 2,000 people. There are over 7,000 different rare diseases.

What are the England Rare Diseases Action Plans?

These are government plans to improve rare disease care in England, focusing on faster diagnosis, better understanding among doctors, organised care, and treatment access.

How long will it take to complete the questionnaires?

Both rounds of questionnaires will be open for at least 2 weeks each, and you can complete them at your own pace within that time.

Will my answers be anonymous?

Yes, this study uses a method that allows participants to remain anonymous, encouraging honest opinions.

Who is funding this research?

This study is funded by the National Institute for Health and Care Research (NIHR), a major UK research funder.

How to find out more

Aimee Walker-Clarke

aimee.walker-clarke@coventry.ac.uk - Official trial record

Always speak to your GP or specialist before deciding to take part in a study.