Research in JDM

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Over the past 50 years, research has transformed our understanding and treatment of juvenile idiopathic inflammatory myopathies (JIIM), including juvenile dermatomyositis (JDM). We now know that JDM is not a single disease but a group of conditions with different biological features, which can help doctors better predict how the disease may behave and choose the most appropriate treatment. Advances in international research collaborations, patient registries and laboratory testing have led to earlier diagnosis, more personalised care and the development of new targeted therapies. Thanks to these improvements, most children today have much better outcomes than in the past, with greatly reduced mortality and an improved quality of life. Although some children still experience ongoing disease or long-term complications, research continues to identify new treatment approaches aimed at achieving faster disease control with fewer side effects. These advances offer  better treatments and outcomes for children and young people living with JIIM in the future.

Wedderburn, L.R., Feldman, B. M., Rider, L. G.

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Saygin, D., Diller, M., Surampudi, V., Bodkin, M., Farhadi, P. N., et al.

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Syntakas, A. E., Kartawinata, M., Evans, N. M. L., Nguyen, H. D., Papadopoulou, C., et al.

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A large international study has identified new genetic factors linked to idiopathic inflammatory myopathies (IIMs). By analyzing genetic data from over 14,000 individuals, researchers discovered several new genes associated with different types of myositis, such as dermatomyositis and polymyositis. These findings enhance our understanding of the genetic underpinnings of these diseases and may lead to improved diagnostic tools and treatments in the future.

Zhu, C., Han, Y., Byun, J., Xiao, X. et al.

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An international task force has developed new treatment guidelines for juvenile dermatomyositis (JDM). These recommendations emphasize a “treat-to-target” approach, aiming for inactive disease within 12 months, with milestones such as moderate improvement at 3 months and normalized muscle strength by 6 months. The guidelines advocate for shared decision-making between healthcare providers and families, and suggest tapering high-dose steroids within a year by optimizing other therapies. These guidelines are based on expert consensus and aim to standardize care and improve outcomes for children with JDM.

Ravelli, A., Rosina, S., MacMahon, J., Baird, T., et al.

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This study looks at certain blood markers, called anti-Sp4 and anti-CCAR1, in patients with a muscle condition called idiopathic inflammatory myopathy (IIM), specifically those who also have another marker, anti-TIF1γ. In adults, the presence of these markers can lower the risk of cancer, which is more common in those with the anti-TIF1γ marker alone. The research found that in the UK, these markers were less common in adult and juvenile patients than previously reported in the US, which makes them less useful for predicting cancer risk in these patients. The findings also showed that the frequency of these markers in juvenile patients was different from what had been observed in the US.

McMorrow, F. K., Wedderburn, L. R., Chinoy, H., Oldroyd, A.. et al (2025)

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Doctors around the world are using a type of medication called Janus kinase inhibitors (JAKi) to treat tough cases of juvenile dermatomyositis (JDM), a rare muscle and skin disease in children. Although JAKi is not officially approved for JDM, many pediatric specialists have seen their patients improve with it. However, access is limited due to a lack of strong clinical data and issues with insurance coverage. Experts agree that more research is needed to confirm how well and how safely JAKi works for children with JDM.

Sherman, M. A., Nicolai, R., Datyner, E. K., Rosina, S. et al. (2025)

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Hamilton, R., Varakliotis, S., Cancemi, D., Spiridou, A., et al. (2025)

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Myositis-specific autoantibodies (MSAs) are special markers found in the blood that help doctors diagnose certain muscle diseases, including those affecting children and adults. These markers help doctors better understand the disease, which can vary greatly from person to person, and tailor treatments more effectively. However, there are still challenges in diagnosing some patients, especially those who don’t have detectable autoantibodies, because the tests used may not always find all the possible markers. More research is needed to improve these tests and ensure better care for everyone affected by these conditions.

Allameen, N. A., Ramos-Lisbona, A. I., Wedderburn, L. R., Lundberg, I. E., & Isenberg, D. A. (2024)

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Mental health is an important but often overlooked aspect of overall health for people with chronic muscle diseases like idiopathic inflammatory myopathies (IIMs). Research has shown that many individuals with juvenile myositis experience high levels of psychological distress, and adults with dermatomyositis who suffer from depression or anxiety are often not receiving proper mental health care. The lack of mental health support is associated with poorer quality of life, worse disease outcomes, and lower medication adherence. There is a need for more research to better understand mental health issues in IIMs, improve access to care, and explore effective treatments.

Lanis, A., Alexanderson, H., Ardalan, K., Edison, S., Graham, C. D. et al (2024)

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In this study, researchers investigated the presence of anti-TIF1γ autoantibodies and their different types (IgG1, IgG2, IgG3, IgG4) in juvenile dermatomyositis (JDM) patients, with a focus on the potential link between the IgG2 subtype and cancer, which is observed in adults with dermatomyositis. While IgG2 was found in 25.8% of JDM patients, no link to cancer or severe disease outcomes was observed in this cohort. Additionally, the study noted differences in IgG2 prevalence across ethnic groups, with higher rates seen in non-Caucasian populations. Overall, the findings suggest that while IgG2 is associated with malignancy in adults, it does not appear to have the same significance in JDM patients.

Nguyen, H. D., Jouen, F., Déchelotte, B., Cordel, N. et al (2024)

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This study compared the clinical characteristics of adults with anti-synthetase syndrome (ASyS) and dermatomyositis (DM), focusing on skin involvement, extra-muscular symptoms, and the risk of malignancy. The results showed that while 31% of ASyS patients exhibited DM-type skin rashes, ASyS patients had more frequent extra-muscular symptoms such as interstitial lung disease and arthritis compared to DM patients. Notably, DM patients had a higher frequency of cancer-associated myositis (CAM), while skin involvement in ASyS did not increase the risk of malignancy. These findings highlight important differences that may influence diagnosis and management of ASyS and DM.

Hum, R. M., Lilleker, J. B., Lamb, J. A., Oldroyd, A. G. S., et al (2024)

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This study aims to develop and test a chatbot intervention designed to support parents and caregivers of children with rheumatological conditions. Given the shortage of pediatric psychologists in the UK, the chatbot is intended to provide essential support between hospital visits, offering a new way to empower caregivers. The study, which began in November 2023, involves focus groups with children, families, and healthcare professionals to identify gaps in current care and inform the chatbot’s design. If successful, the chatbot could lead to a larger trial and become an important tool for improving the well-being of families affected by chronic conditions.

Livermore, P., Kupiec, K., Wedderburn, L. R., Knight, A.,  et al (2024)

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This study aimed to gather expert opinions on two treatments for juvenile dermatomyositis (JDM): methotrexate (the standard treatment) and baricitinib (a Janus kinase inhibitor). A meeting with ten UK pediatric rheumatologists was held to discuss the probability of patients achieving clinically inactive disease off glucocorticoids within a year using either treatment. The experts generally favored baricitinib, estimating a 55% chance of success, compared to just 23% with methotrexate. This expert opinion will be integrated into the upcoming BARJDM trial to assess the relative efficacy of baricitinib and methotrexate for JDM treatment.

Papadopoulou, C., Martin, N., Rafiq, N., McCann, L.,  et al (2024)

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This study used a novel approach to identify genetic links to myositis (a rare autoimmune disease) by borrowing information from larger genome-wide association studies (GWASs) of more common immune-mediated diseases (IMDs). By combining this method with clustering techniques, the researchers discovered 17 IMDs genetically similar to myositis, including systemic sclerosis and Sjögren’s syndrome. They also found seven new genetic associations linked to immune-related genes, suggesting the involvement of both B and T cells in myositis, which could provide insights for future treatments. This method offers a new way to study rare diseases by leveraging genetic data from more common conditions.

Reales, G., Amos, C. I., Benveniste, O., Chinoy,  et al (2024)

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Juvenile idiopathic inflammatory myopathies (JIIMs) are a heterogenous group of rare autoimmune diseases of children and young people that predominantly affect the muscles and skin but can also involve other organs. This review focuses on differentiating JIIMs phenotypes (observed characteristics) and how these are associated with clinical characteristics, prognoses and treatment responses. It is highlighted how some validated prognostic biomarkers (a molecule found in blood or tisssue) are available with which to predict response to treatment, comorbidities, or outcome.

Papadopoulou, C., Chew, C., Wilkinson, M. G. L., McCann, L., Wedderburn, L. R. (2023)

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Lay summary

In this paper, we have examined genes (the human code) and the pattern of expression of these genes in immune cells called monocytes from JDM patients. We discovered that genes that code for mitochondria (the ‘powerhouse’ energy producers of the cell) were less active in JDM patients (even those already on strong treatment compared to healthy children of the same age). We also found that markers of inflammation were more switched on in these same JDM patients. Looking at the mitochondria in more detail we discovered that the mitochondria were more varied in size and there was more release of mitochondrial DNA in JDM compared to controls. We showed that this mitochondrial DNA was oxidised and could switch on gene markers of inflammation. These genes could be switched off by blocking pathways that lead to inflammation and by using an anti-oxidant drug (already used in clinic) called N-acetyl cysteine (NAC).

We believe that these discoveries now allow us to look for new and very specific drugs to improve the treatment of JDM.

Wilkinson, M. G. L., Moulding, D., McDonnell, T. C. R., Orfond, M., et al. (2022)

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This study investigated the role of anti-TIF1γ isotypes as potential biomarkers for clinical manifestations in juvenile dermatomyositis (JDM), a rare autoimmune disease that affects children and adolescents. The researchers found that, similar to adult dermatomyositis (DM), anti-TIF1γ antibodies, particularly the IgG2 isotype, could play a role in the disease, although the prevalence and clinical impact varied across different ethnic groups. The IgG2 isotype was present in 25.8% of JDM patients, but no malignancies were reported in the pediatric cohort, unlike in adults with DM, where the IgG2 isotype is linked to cancer. The study also observed that the presence of anti-TIF1γ isotypes could change over time. These findings suggest that while the IgG2 isotype may be important in adult DM, it does not seem to correlate with severe disease outcomes in JDM. The study also highlighted significant ethnic differences in the prevalence of the IgG2 isotype, particularly among North African patients.

Nguyen, H. D., Joue, F., Cordel, B. D. N., Gitiaux, C., et al. (2023)

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The idiopathic inflammatory myopathies, known collectively as myositis, are a rare group of autoimmune diseases. A combination of genetic and environmental risk factors likely play a role in the development of this disease. We used new statistical techniques, using patient DNA from our previous research, to identify new regions of the genome that may be important in developing myositis. In addition, these regions of DNA give us clues as to which cell types are important in myositis, which will help inform future research for this debilitating and under-researched disease.

Rothwell, S., Amos, C. I., Miller, F. W., Rider, L. G., et al. (2022)

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In this study, the authors analysed long-term outcomes of young people with JDM by surveying people who had had JDM, and were part of the JDCBS . The surveys were sent out to them when they were an average of 21 years old. A little under half of the people who were sent the survey replied. Peoples own perceived about their muscle disease was an important outcome from a patient perspective, that they felt affected quality of life outcomes, especially their mental health. This group of young people also had a reduced rate of employment, and were more likely to be living with their parent/guardian compared to the rest of the UK population. This study highlights the importance of including the patient perspective in the assessment of long-term outcomes.

Boros, C., McCann, L., Simou, S., Cancemi, D., Ambrose, N., et al. (2022)

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The BSR Guideline on managing myositis is the first of its kind to address management of myositis in children, adolescents and adults in one combined resource. It was produced by a highly mutli disciplinary team of health care professionals, as well as patients and carers. The JDM Cohort and Biomarker Study Steering Committee  specifically endorsed this guideline.

Oldroyd, A. G. S., Lilleker, J. B., Amin, T., Aragon, O., et al. (2022)

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Working with collaborators in the US, Canada and Norway, we assembled the largest number of samples from patients with JDM that have ever been used for a genetic study. We found that patients with JDM were more likely to have changes in a gene that has an important role in identifying molecules that have come from bacteria or viruses and then triggering an immune response. This information might be useful for helping us to understand what causes JDM and what makes JDM different from adult myositis.

Deakin, C.T., Bowes, J., Rider, L. G., Miller, F. W., et al. (2022)

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Lay Summary

This review focuses on the recent developments in the understanding of juvenile dermatomyositis (JDM). Describing new insights into JDM for long-term outlook, disease course and health-related quality of life. Additionally, highlighting new, emerging treatments. 

McCann, L. J., Livermore, P., Wilkinson, M. G. L., Wedderburn, L. R.

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Despite recent advances, outcomes and prognosis in children with JDM differs significantly and some of them experience severe disease with long term morbidity. In this study we looked into using novel blood tests indicative of blood vessel injury and hypercoagulability (tendency to blood clot) to monitor disease activity and responses to treatment in JDM. We also looked into risk of long-term heart complications as a result of the ongoing blood vessel injury. In the future, we may use these discoveries to identify high-risk patients who need stronger treatment, thus sparing unnecessary lengthy treatment in some, and treating others earlier.

Papadopoulou, C., Hong, Y., Krol, P., Al Obaidi, M., et al.

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Rietveld, A., Wienke, J., Visser, E., Vree Egberts, W., et al.

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The uncertainty of long-term outcomes is a difficulty for patients and families following a new diagnosis of JDM. Using data from the UK JDM Cohort and biomarker study (supported by Myositis UK), we identified two groups of patients with distinct patterns of disease trajectories over time. Most patients (89%) had a milder disease course, but a minority of patients (11%) experienced ongoing severe disease. We also showed that patients whose skin and lungs are affected in certain ways when they are diagnosed are at higher risk of developing ongoing severe disease. This research helps us understand the range of disease courses in JDM. We hope that this research might help identify patients who need more aggressive treatment at an early stage of their disease.

Deakin, C. T., Papadopoulou, C., McCann, L. J., Martin, N., et al.

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The aim of this study was to gain a better understanding of how parents and carers feel about the effects and impact of the COVID-19 pandemic ‘lock down’ and how this impacted upon their child or young person with Juvenile Dermatomyositis (JDM). We approached by email 139 participants from the Juvenile Dermatomyositis Cohort Biomarker Study (JDCBS). We asked their parent and carers to complete a questionnaire that consisted of 20 questions about the impact of the pandemic on their child or young person’s clinical care. Results showed that COVID-19 has disrupted the treatment of JDM. Parents and carers are worried, concerned and anxious about the effects of COVID-19 on their child or young person. Parents and carers had access to enough, useful information to support their child or young person with JDM. The uncertainties during this time need to continue to be addressed so that we can adapt the care and support for JDM patients.

Wilkinson, M. G. L., Wu, W., O’Brien, K., Deakin, C. T., et al.

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In this analysis, we showed that blood serum samples from children and adolescents with JDM and other rheumatic diseases contain similar levels of antibodies to human coronaviruses when compared to healthy children and adolescents. This showed that patients with juvenile rheumatic diseases have a normal response to a virus from the coronavirus family which causes the common cold. Antibodies that respond to the SARS-CoV-2 virus which causes COVID19 were also detected in these patients.

Deakin, C. T., Cornish, G. H., Ng, K. W., Faulkner, N., et al.

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100,000 Genomes Project Pilot Investigators, Smedley, D., Smith, K. R., Martin, A., et al.

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This paper reports on a survey sent to centres across the United Kingdom to ask how they support children and young people and their families with Juvenile Dermatomyositis. We specific ask nurses, doctors and psychologists in each centre some questions about what kind of support they provide. We found that nearly half of the centres do not have access to a psychologist as part of the Paediatric Rheumatology team and that not enough time is one of the biggest concerns for nurses and doctors when wanting to ask about mental health issues for their patients.

Livermore, P., Gibson, F., Mulligan, K., Wedderburn, L. R., et al.

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This is a review of the literature to identify the evidence to support the use of a new class of drugs called JAK inhibitors to treat JDM patients. Despite options for treatment there is a need to find improved, targeted treatments to improve disease severity, quality of life and decrease drug side-affects. Multiple research studies have found that there are high levels of interferon (a protein produced by white blood cells in response to infection) in the blood, muscle and skin of patients with JDM. Interferon is a highly inflammatory protein and is associated with active disease in JDM. A cell can make interferon through a sequence of proteins called the JAK-STAT pathway. JAK inhibitors stop the protein sequence preventing interferon being made with the aim of reducing inflammation and improving disease. There have been promising results for the use of this drug, but clinical trials need to be carried out for these drugs to be approved for use in JDM.

Wilkinson, M. G., Deakin, C. T., Papadopoulou, C., Eleftheriou, D., et al.

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Since JDM is a rare disease, it can be difficult to research new drugs because clinical trials are expensive and need large numbers of patients. Here, we reviewed all the available published academic literature on how IVIG and cyclophosphamide are used to treat JDM. We describe the evidence for the effectiveness of these drugs based on case series and more innovate analytical approaches.

Doudouliaki, T., Papadopoulou, C., Deakin, C. T.

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This is a review article. Very little is known on how to best treat a complication of JDM, called calcinosis. We reviewed the literature to look into what treatments have been used so far worldwide to treat calcinosis and what is the evidence for each one of them. At the end of the article, we also shared our experience in GOSH.

Kul Cinar, O., Papadopoulou, C., Pilkington, C. A.

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The aim of this study was to identify the numbers and types of immune cells in juvenile and adult myositis. White blood cells were isolated from blood samples from patients and age-matched healthy controls. 27 types of white blood cell were identified and numbers were counted in each sample. The distribution patterns of these 27 cells in each sample formed signatures that were separately unique to the patients groups adult dermatomyositis, adult polymyositis and adolescent onset JDM. These signatures could help to identify new drugs.

Wilkinson, M. G. L., Radziszewska, A., Wincup, C., Ioannou, Y., et al.

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In rare diseases like JDM, it can be difficult to get evidence for whether new medicines work. In this paper, using data from the UK JDM Cohort and biomarker study (supported by Myositis UK), we describe the clinical scores of patients with JDM who were treated with two different antibody drugs called infliximab and adalimumab, which target the “TNF” molecule. Measures of skin, muscle and global disease improved over time in patients treated with these drugs. The evidence isn’t as strong as a clinical trial, because there wasn’t a group of patients who didn’t receive these drugs to compare to. Nevertheless, we show these drugs are safe and that there may be some benefit for patients with JDM who take them.

Campanilho-Marques, R., Deakin, C. T., Simou, S., Papadopoulou, C.,  et al.

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During the COVID-19 pandemic, it was well reported that children and adolescents developed less severe symptoms from COVID-19 than adults. In this paper, using samples from the adolescent centre biobank – collected before the pandemic – George Kassiotis’s lab at the Crick institute demonstrated this may be because children and adolescents have more antibodies – which are molecules that help clear infections – that recognise parts of the SARS-COV-2 virus that causes COVID-19 even before infection with SARS-CoV-2.

Ng, K. W., Faulkner, N., Cornish, G. H., Rosa, A., et al.

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