Scleroderma

The EATC4Children is involved in developing outcome measures for Juvenile Localised Scleroderma (JLS) and investigating new treatments for JLS and Juvenile Systemic Scleroderma (JSS).

JLS is characterised by chronic inflammation within the skin and tissues, leading to fibrosis. It can occur at any age, but is more common in girls than boys. The disease may be rare, with an incidence of 3.4 per one million children per year in the UK; however, it is associated with significant complications, including joint contractures, limb length discrepancy, and facial atrophy, that impact quality of life.

JSS is even rarer than JLS; less than 10% of children with scleroderma have systemic illness. Systemic sclerosis can also occur at any age, and it involves the internal organs, such as the heart, lungs, or kidneys.

Scleroderma trials that the EATC4Children are involved in include:

Development of outcome measures in juvenile localised scleroderma

Currently, there is almost no evidence base for the treatment of JLS, and clinical trials are urgently needed. This study aims to investigate measures of disease activity and the development of outcome measures that will:

Facilitate clinical treatment trials for children
Inform treatment decisions.

The study applies state of the art imaging techniques, using non-invasive high frequency ultrasound (HFUS), hyperspectral imaging (HSI), laser Doppler imaging (LDI) and infrared thermography (IRT) compared to examination including a clinical skin score and computerised skin score (for measuring surface area). This study will help set the foundation for future work and clinical trials to identify the best treatments for this rare but significant disease (CI: C. Pain).

Associate Professor Clare Pain is Associate Director of the Experimental Arthritis Treatment Centre for Children (EATC4Children), based at Alder Hey Children’s NHS Foundation Trust and the University of Liverpool.

She leads research that directly transforms care for children living with complex musculoskeletal and rare autoimmune diseases. She has a particular clinical and research interest in juvenile scleroderma. Scleroderma is a group of autoimmune conditions which lead to ‘sclerosis’ of the skin and in systemic sclerosis to internal organs.

Scleroderma means ‘sclero’ = ‘thickening’ and ‘derma = skin’.

🔬 Research Highlights

PASTIES (PAtient STratification and Individualised trEatment in Systemic’ sclerosis)

Co-led by Associate Professor Clare Pain and Prof. Christian Hedrich, this is a genetic, epigenetic, and autoantibody profiling study comparing juvenile-onset systemic sclerosis (JSSc) and adult-onset systemic sclerosis (SSc) to identify whether there are differences at an immune system level between adults and children which maysupport targeted, individualised treatment. The study is open and recruiting in several sites in the UK and Europe. PASTIES is funded by SRUK, Alder Hey Children’s Charity, FAIR and BIRD.

Development of a clinical trial in localised scleroderma

Supported by the Scleroderma Clinical Trials Consortium, this project aims to harmonise global datasets on localised scleroderma to develop a randomised clinical trial.

On the 29th May 2025, we joined with Scleroderma & Raynaud's UK to host a vibrant workshop for young people and families with localised scleroderma.

During a series of interactive exercises, families shared their research priorities and discussed what outcomes matter most to them. Together, we spent the afternoon trying to design a sequential trial and focusing on how we can best incorporate the patient’s priorities to benefit them.

With many heartfelt conversations with families the day was packed with creativity, collaboration & community spirit.

If you’re interested in joining our future PPIE workshops, contact us on EATC@liverpool.ac.uk

A global expert consensus meeting is also scheduled for September 2025.

Check out our social media for more details on upcoming workshops!

LOSQI (Localised Scleroderma Quality of Life Instrument) study

Associate Professor Clare Pain is leading an international study focused on improving care for children and young people with juvenile localised scleroderma. The goals were to understand how the disease affects young people’s daily lives and how a quality of life instrument designed with patients (the LoSQI) compares with other measures of the condition. So far, the study is open in over 30 places around the world and has included over 250 children with this condition. Watch this space for further information as we start to analyse the results.

MOLEHILL Study

This study is looking at how cells talk to each other in the skin in localised scleroderma. If patients and families consent to this study, we can use skin biopsies that have been taken before as part of clinical care (even those taken several years ago) and look at them under a special microscope (spatial transcriptomics). We are comparing skin from adults and children with this condition to understand why the disease is different in adults.

Elicitation of expert prior opinion for a future Bayesian randomised controlled trial for a rare inflammatory paediatric disease, Juvenile Localised Scleroderma (JLS)

There has only been one therapeutic treatment trial in JLS which examined the effectiveness of methotrexate (MTX). Mycophenolate mofetil (MMF) is an emerging alternative for MTX however there has not been a clinical trial of MMF in children with JLS. We want to perform a clinical trial comparing MTX to MMF.

Before this clinical trial can happen, there needs to be an international expert consensus meeting to establish prior opinion and knowledge. This is critical to informing a future clinical trial and how it is designed. The meeting seeks the prior opinion of experts on the relative efficacy of both MTX and MMF. Opinion will also be sought about the relevance of data from adult and/or other paediatric studies, agreeing the primary outcome and agreeing corticosteroid regimens of a future trial. (CI: C. Pain).