In conversation with...Scleroderma and Raynaud's UK

We are highlighting each of our charity partners in turn, discussing how we work together and how we can bring value to each other. This Q&A focuses on Scleroderma and Raynaud's UK

Why is a national centre for children, like the UK’s Experimental Arthritis Treatment Centre for Children (EATC4Children), so important for those children and young people living with conditions such as scleroderma?

Scleroderma is a rare condition in adults but is even rarer in children. It is a highly complex condition; its causes are not fully understood and are a combination of genetic and environmental factors.

Research into childhood scleroderma is extremely important to help us understand the biological mechanisms behind juvenile scleroderma which control how and why some children develop the condition and how these differ to adult disease.

This is extremely important to help understand which existing treatments could work best in children and provide clues for how new treatments better suited to younger patients could be developed and tested - another area of unmet need. The EATC4Children, the clinicians, researchers, patients as well as the involvement and engagement staff who work there are vital to help further these goals.

The voice of children and young people, and their families, have been the strongest and loudest champions of the EATC4Children since its conception. How important is the voice of children, young people and parents to the forward research strategy of SRUK in improving their care and the understanding of the conditions affecting them?

SRUK is a patient organisation, the voice of our patient community and their loved ones/ carers is paramount. We seek to advocate on their behalf and empower them to self-advocate and increase awareness of Scleroderma and Raynaud’s.

Our patient information is co-produced with clinical experts and those living with the condition. Our research strategy was developed in partnership with a patient panel which included a young person who developed systemic sclerosis (the most severe form of scleroderma) when he was nine years old.

Moving forward we are working on an exciting project to develop a patient registry which will include both adult and juvenile scleroderma patients. We hope that this initiative will support and grow research and clinical trials into scleroderma at all life stages, allowing us to build up much needed evidence of how scleroderma affects the day-to-day life the lives of those with the condition and their loved ones. We are working closely with both adults, children and young people with the condition and parents/ carers of children with the conditions to help us shape the registry.

SRUK has jointly funded a project called PASTIES which aims to stratify patients for individualised treatment in system sclerosis. Why are projects like this so important for SRUK and scleroderma patients?

PASTIES is an important project which aims to develop a better understanding of the molecular mechanisms of juvenile scleroderma to identify biological markers or ‘biomarkers’ that could be of use in the diagnosis of scleroderma, working out how a child’s scleroderma will progress and could inform the best treatment options for a person.

This research is immensely important to SRUK and scleroderma patients. By developing a deeper understanding of the biology of scleroderma we can develop new ways of diagnosing it earlier minimising the diagnostic odyssey that many patients experience. We can develop new approaches to treatments better suited to individual patients, taking away the trial-and-error approach often used in prescribing. We can gain insight into the likelihood of a person developing organ complications and start screening for these earlier or offer preventative strategies. All of these have the potential to improve quality of live for those living with or being diagnosed with the condition – allowing children to live better with the condition.

SRUK provided funding to Dr Clare Pain (EATC4Children Associate Director) to host an international consensus meeting in Juvenile Localised Scleroderma. How important are consensus guidelines for the diagnosis and treatment of this condition?

Treatments can sometimes work equally well in managing disease symptoms but can be vastly different in the side-effects they cause. Dr Pain’s international consensus meeting explored the prescribing of treatments for juvenile scleroderma, and it was agreed that in future clinical trials clinicians should measure how well each drug works in managing the condition and combine this with how well each patient tolerated the treatment.

By reaching consensus that these two factors should be measured and combined during clinical trials to ensure that patients have access to effective yet well-tolerated treatments, with minimal risk of side effects.

Likewise, consensus guidelines for diagnosis of the condition can also help to ensure young people with scleroderma are diagnosed in a timely manner and can access the right treatments to treat their condition as soon as possible.

The EATC4Children is unique in being the only national EATC specifically for children and young people. What are the important gaps in the translational pathway from bench to bedside and back again that SRUK sees the EATC4Children fills?

Childhood scleroderma is an area of high unmet need. There is an even lower awareness of the condition in children compared to adult scleroderma meaning that diagnosis can be slow, and much damage can be sustained before treatment is started. There is also limited clinical trial activity for treatments in children.

A greater understanding of juvenile scleroderma and how it compares to the condition in adults is vital. The bench to bedside and precision medicine approaches of EATC4Children are key to making this happen; helping to make the diagnostic journey more efficient, taking away the guess work when prescribing treatments and minimising the effects of scleroderma on children’s physical and psychological well-being, missed school days and hopefully leading to better adult outcomes.

How do you envisage SRUK can work with the EATC4Children to increase support for children and young people with scleroderma and their families?

SRUK can work with EATC through continuing to fund and co-fund research projects through our grant funding programme. We have also collaborated with EATC4Children researchers on larger grant international grant applications which aim to further this work and collaborate with leading teams in the US.

SRUK wants to raise the profile of juvenile scleroderma and drive awareness of the effects it can have on a young person’s childhood and adolescence and the family unit and give those affected a voice. We are keen to continue working with EATC4Children on this ambition along with the information we provide to the families affected.

How important is the relationship and the close collaborations that SRUK and the EATC4Children already have together? What is your vision for how this can grow even more in the future?

SRUK and EATC4Children have the shared vision and priority of ensuring that the patient voice is embedded in our day-to-day work. We have enjoyed working with EATC4Children on collaborative grant applications, our information for patients and when appropriate, funding smaller research projects within EATC4Children through our grant funding mechanisms.

In the future SRUK sees us continuing this work and growing the opportunities for young people and their families to contribute to the research we fund and the projects that we undertake like our patient registry project. We want to empower the young people to be well-informed to enable them to be partners in managing their condition.

The UK’s EATC4Children addresses the needs of children with scleroderma also other paediatric rheumatic and musculoskeletal disorders. How important is this interdisciplinary work to SRUK, which includes collaborative working across multiple disease-specific charities?

Interdisciplinary work is extremely important in a rare disease area like scleroderma. We can learn so much from the approaches taken in other diseases within research and within other areas such as patient treatment and care, along with how best to support and provide information to children and families.

Within research specifically, working with charities in other disease areas allows us to co-fund research which is relevant for both conditions allowing a greater volume of work to be accomplished, and knowledge to be generated in the area and exposing researchers to other scientific disciplines.

Collaborative working with other disciplines from outside of medicine is also extremely important. The addition of bioengineers, computer scientists and software engineers, implementation scientists can often have a transformative effect on a project – leading to new approaches or solutions with potential to change lives for the better.

From the perspective of SRUK, what would be the key highlights of the EATC4Children and what would be the most important goals for us to achieve over the next 5 years?

EATC4Children is a valuable, high-profile resource important in establishing and driving many research collaborations at a both a national and international level. Over the next five years SRUK looks forward to seeing EATC4Children continue to advance their translational research including their precision medicine approaches in juvenile scleroderma patients. We look forward to seeing an increased awareness of juvenile scleroderma from this work leading to more effective diagnosis, clinical trials and greater treatment availability for children and young people. We’re proud to be associated with EATC4Children!

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