Fast-forward to 2040: What does the future hold for Scleroderma?

Think of your life... a lot can happen in twenty years! The same rings true for medicine where scientific research drives improvements in diagnosis, treatments, and care. Ever-increasing knowledge of the mechanisms underpinning conditions like scleroderma lead to the identification of new targets for novel drugs which can then undergo clinical development and trials, before being approved for use in patients.

Professor Dame Carol Black acknowledged the importance of research during her welcome speech which opened SRUK’s 2021 Virtual Conference. Dame Carol spoke of how relatively little was known about scleroderma and how this contributed to a bleak outlook for patients in the 1970s, when as a ‘houseman’ she first encountered a patient with the condition who had developed kidney complications. She spoke of how it affected her when sadly her patient, a young woman, died 3 weeks later under her care.

Since then, we have come a long way in our understanding and ability to treat scleroderma. There are now targeted drugs and treatments which couldn’t even be dreamed of in the 1970s! So, what advances might we expect to see in the next 20 years? SRUK invited Dr Elizabeth Volkmann, Professor Francesco Del Galdo and Professor Chris Denton to fast forward to 2040, and share their vision of what the future could hold.  

In 2040: The paradigm of diagnosis will have shifted due to people being diagnosed earlier

Scleroderma is a complex, chronic and progressive condition, overactive inflammatory responses lead to damage and scarring affecting the skin and other organs of the body – eventually leading to irreversible damage. Professor Francesco Del Galdo (University of Leeds), envisages a future where people with scleroderma will be diagnosed earlier allowing doctors to prevent these irreversible changes occurring.

Those with scleroderma report waiting between 3-5 years for diagnosis, with many experiencing Raynaud’s attacks long before they approach a GP. In fact, around 97% of people with scleroderma report Raynaud’s attacks as their first symptom of the condition. Knowing this, it is possible that in 20 years’ time those with Raynaud’s could be screened for a high, medium, or low risk of scleroderma.

Professor Del Galdo is leading research which may make this aspiration possible. Through studying a group of patients with Raynaud’s who have a higher than usual risk of progressing to scleroderma, he hopes to identify biomarkers that could serve as early warning indicators.

Professor Del Galdo, believes that this work will contribute to a future paradigm shift:  Patients with Raynaud’s will be tested for their ‘risk of autoimmunity.’ For those in higher and medium risk categories, regular monitoring for signs of biological activity (early symptoms of scleroderma) will be conducted and individuals may be offered treatments to help manage these processes. 

Finally, Professor Del Galdo hopes that in the future, patients will only receive a clinical diagnosis of scleroderma is all attempts to prevent the condition have been unsuccessful. This prevention work could be initiated before the patient has even been diagnosed with scleroderma, through the monitoring of their biological activity (otherwise known as the processes which underlie autoimmunity).

In 2040: We will be able to predict early on who will develop certain organ complications

Scleroderma is a varied and complex condition – some people start off with incredibly severe symptoms yet remain stable for the rest of their life; others may have mild symptoms at first and then deteriorate suddenly. Some individuals exhibit severe gastro-intestinal involvement whereas others may develop lung, heart, or kidney damage; the more information we have on how a patient is likely to progress, the sooner treatment can begin.

Dr Elizabeth Volkmann (UCLA), is interested in developing personalized treatment approaches which aim to treat or prevent organ involvement before it begins.  Her work focuses on biomarker discovery and understanding how a person’s gut bacteria or microbiome may contribute to the inflammation and symptoms seen in scleroderma.

Dr Volkmann’s envisages a future where patients in the early stages of scleroderma will undergo prognostic tests of blood and stool samples. The results will inform the patient and clinician of the risk of the person developing organ-based complications of scleroderma like interstitial lung disease or pulmonary arterial hypertension. This knowledge would allow clinicians to ‘step in’ ahead of time with treatments or nutritional interventions to prevent these sometimes-fatal complications from developing. Clinician’s would also be in a position to alleviate some of the anxiety experienced by patients by informing them of their risk, either offering reassurance in the case of low risk or empowering those at greater risk to work with their clinician(s) to remain healthier for as long as possible.  

In 2040: Precision medicine will offer patients more effective treatment combinations and targeted monitoring

Professor Chris Denton, from the Royal Free Hospital London shared in his vision for treatments and the patient journey in the future. He shared Dr Volkmann’s view that the future will offer great opportunities for precision medicine, opening up more advanced drug combinations for patients which may make todays pioneering treatments like stem cell transplantation a treatment of the past. 

Professor Denton shared his hopes for the continued evolution of the patient journey. Noting that technological advances will allow more and more routine examinations and perhaps even heart and lung examinations to be carried out remotely.  This is already becoming a reality due to research looking at the possibility of remote skin monitoring triggered by the COVID-19 pandemic. Prof Denton wonders whether wearable devices such as smart watches might even make routine checkups a thing of the past, with an alarm or flashing light alerting you to see your doctor.  

How is SRUK making these visions a reality?

As Dame Carol said in her opener to the conference, research underpins all medical advances.  SRUK as part of its research strategy funds research which will advance the areas of early detection and diagnosis, precision medicine, quality of life and understanding the causes of scleroderma. These research themes were co-developed and prioritized in partnership with clinicians, researchers and those living with Scleroderma and Raynaud’s. SRUK already fund many exciting projects in the areas spoken about by Dr Volkmann and Professors Del Galdo and Denton. Check out research news, on the SRUK website to find out more about the research we fund.