Early Diagnosis of Systemic Sclerosis in the General Rheumatology Clinic

The aim of this project is to develop an artificial intelligence (AI) system that helps rheumatologists to diagnose systemic sclerosis (also called ‘scleroderma’) as early as possible. The system will use microscope images of the small blood vessels (capillaries) at the base of the fingernails (nailfold capillaroscopy) and digital technology to find changes due to disease.

Systemic sclerosis is a painful, disabling disease affecting around 20,000 people in the UK. Symptoms include painful ulcers on the fingers and toes, and life-threatening damage to internal organs. As Systemic Sclerosis is so rare, many GPs have limited direct experience of the early symptoms and therefore diagnosis and treatment is often delayed. Starting treatment early helps to control symptoms, improve quality of life for patients and could reduce the annual cost of systemic sclerosis care, estimated at £82m to the NHS and £270m overall to the UK economy.

The first symptom of systemic sclerosis is usually Raynaud’s phenomenon – white/blue, painful fingers in the cold –though around 5% of otherwise healthy individuals also experience Raynaud’s. The National Institute for Health and Care Excellence (NICE) recommends that GPs should refer patients with Raynaud’s to a general rheumatology clinic for assessment, especially if a blood test suggests autoimmune disease.

When a patient is referred for assessment, using nailfold capillaroscopy to find vessel abnormalities caused by systemic sclerosis is recognised internationally as key to early diagnosis. Despite this, it is not used in most rheumatology clinics, because it requires expensive equipment and specialised skill. When capillaroscopy is not available, diagnosis is often delayed, which can have serious consequences for patients.

We aim to support early diagnosis of systemic sclerosis in the General Rheumatology clinic by developing a capillaroscopy system that can be used by non-specialists. They will take images with an inexpensive hand-held digital microscope, and an online reporting service will use AI to analyse the images, returning an ‘expert’ clinical report in minutes – whilst the patient is still in the clinic. This will speed up the diagnostic process and facilitate earlier access to specialist care.

The project will:

• ·       develop AI computer software to guide inexperienced users to collect high quality images;
• ·       develop an AI-based automated online reporting service;
• ·       test the imaging system and reporting service in General rheumatology clinics;
• ·       model how the new system affects healthcare costs, and benefits to patients;
• ·       gather evidence to meet regulatory requirements;
• ·       develop a business model for delivering the service.

We have worked with patients and rheumatologists to develop this proposal. Their continued involvement in codesign and testing is critical to the success of the project, at the end of which we will be ready to launch a pilot system.

Involvement of people with systemic sclerosis is deeply embedded into every stage of this project. Patient group representatives play an active role in most of the work-packages and are members of the Project management and Steering groups. 

The PPIE co-lead for the project is a person with systemic sclerosis, who is actively involved in the management of the project. Delivery of the PPIE objectives is embedded into each work-package (planned with patient input prior to grant submission).

Regular Patient Group meetings are held to provide input and feedback on the project. The Patient Group also took part in a workshop to co-design an information leaflet to engage people with systemic sclerosis with research. The group members shared their feelings and experience around taking part in research, both as patients in research studies, and as collaborators/steering group members in research projects. During this workshop quotes were collected from the participants to develop the patient leaflet. Following this session, the Patient Group worked remotely on the development of the leaflet, which will be distributed to research sites.

Members of the patient group have recently taken part in a workshop with clinical rheumatologists, to co-design the reports that the AI system will return to the clinician and patient.

Many of the patients in this group have been involved with the project for many years, during the early stages of the image acquisition technology development. They remain motivated because they understand the vital importance of early diagnosis in this rare disease. They are aware that many patients remain undiagnosed for months or years because of lack of access to this valuable diagnostic procedure. 

People have been invited to take part in the project by clinical members of the project team or were long-standing members of other user groups.

We have also reached out to the other clinical sites engaged in the project, and asked PIs to invite any interested participants to join the Patient Group.

The Patient Group members requested training in building confidence and assertiveness, to support them in their role as patient representatives in research. This was provided as interactive, in person training and will also be offered as an online session for those unable to attend in person.

Patient Group members are encouraged to discuss any issues or questions they have with project team members. Patient representatives are considered as experts in their lived experience, and all project team members aim to maintain an environment where all viewpoints are respected and valued equally.  

A patient representative was invited to be part of the team representing the project on the Division of Dermatological and Musculoskeletal Sciences stand at the University of Manchester Community Festival in June 2024 (a university wide science engagement event open to the public).  

The project is still ongoing but the involvement of patient representatives in all stages of the project has been extremely valuable. Having patient perspectives on the process of systemic sclerosis diagnosis has helped us to shape the way images are captured, and results are reported.

Having a patient voice has provided insight into the clinical pathway, and the importance of sharing information between the rheumatologist and the GP.

Our patient representatives have told us how important it is for them to be listened to and have their perspective valued. They have said that they find their involvement in research empowering, and that it helps them to better understand the complexity of making a diagnosis of systemic sclerosis. Some quotes from patient representative group members include:

·        “I feel good, and it makes me feel like I'm contributing to a positive outcome for my fellow sufferers.”

·        “It's not only just knowing what the disease is, but the measures that are being taken to come up with something new to treat it as well. You know there is a way forward there, there are other opportunities to come.”

·        “It gives you an insight into the constraints of research. I was surprised just how long it takes to develop a new medication and the legal and ethical ramifications.”

Several of the patient group members have been involved with the previous i4i Nailfold capillaroscopy project, and having this continuity of people has been valuable. Group members have a detailed understanding of the background of the current project (several of whom helped to shape this) and are familiar with the challenges presented both by the technology and the condition itself.

It has been difficult to recruit people from underrepresented groups to widen the Patient Group. This challenge may be in part due to the impact that the condition has on the health of patients, making them less able to take part in research. In our wider Patient and Public Involvement and Engagement (PPIE) work (outside of this project) we are working with underrepresented groups to improve involvement.

Plan early – begin to involve patient representatives at an early stage of project concept/design and prior to grant application.

Complete the cycle -ensure that patients are involved in the project from end-to-end, from grant application to dissemination, publication/commercialisation.

Patient partners are members of the team and bring their own expertise. Keep partners informed at each stage – tell them the outcomes of grant applications, whether positive or negative. Tell them the outcomes of project work, so they know that their input is valued.

Ensure that the patients involved in the planning of the research are those with direct experience of the ‘problem’ in question and therefore have a good understanding of the need for the research, and of any practical difficulties which patients might experience if they choose to participate. 

As discussed above, one goal was to engage a diverse range of participants from other clinical centres (this is a multi-centre study). This has been a challenge. Going forward we will hope to use our patient leaflet to help this process. We will continue to try and recruit new members; we are hopeful that once people take part in the study, they may be more keen to be involved in steering the research.

One ongoing hurdle to capillaroscopy is that it can be difficult to image capillaries in patients with darker skin (due to the melanin [responsible for pigmentation] sitting above the capillaries in the skin and obscuring them). The project team are very aware of this, and other healthcare inequalities faced by people from non-white-British ethnic groups and as such we need to involve participants from a wider range of ethnic backgrounds. This continues to be a challenge, and we are regularly reaching out to our clinical colleagues to attempt to engage a wider patient population.