September 7 is World Duchenne Awareness Day. On this day we raise awareness for Duchenne and Becker muscular dystrophy around the globe. One in 5,000 newborn boys in the world is affected by this rare and fatal disease. This Duchenne Awareness Day, we spoke to some WMS members who are working to make life better for the 250,000 children diagnosed with Duchenne every year.

Chloe Geagan is a clinical psychologist working in paediatric neuropsychology at The Great North Children’s Hospital and the John Walton Muscular Dystrophy Research Centre in Newcastle Upon Tyne in the UK. She has been focussing on the DMD Care UK Psychosocial Programme since October 2022. This initiative, launched in October 2020 by Duchenne UK and Newcastle University, aims to enhance standards of care in all aspects of Duchenne across the UK. Chloe says: “I have also been very lucky to join the Brain Involvement in Dystrophinopathies (BIND) study, collaborating with colleagues in the UK and Europe to better understand brain involvement in Duchenne and Becker muscular dystrophy.”

We asked Chloe how she came to specialise in Duchenne and she told us: “I have worked in hospitals with families and young people with physical health conditions for a number of years. We often hear about how difficult life can be when growing up with a physical health condition, and how stressful and anxiety-provoking this can be. I heard about the work that was being done as part of DMD Care UK and thought it would be the perfect opportunity to get involved in a very important project, with the chance to make some real change in how services support individuals with Duchenne and their families.

“In addition to supporting our local families with Duchenne, the aim of the psychosocial project is to ultimately ensure that appropriate psychosocial support is part of the care received by individuals with Duchenne, in the same way medical and physiotherapy care is offered as standard. This might include things like talking therapy, but also includes thinking about how to get support in education or work, looking at what is important to families and individuals. I often hear from families about how tiring it is having to fight for support or not being listened to. I hope that the work that I, and other colleagues, do will help get support in place earlier so that individuals with Duchenne and their families can get the most out of their day-to-day life. This also includes helping other professionals to think and ask about psychological and emotional well-being so that they feel more confident in supporting families in this area.”

Giorgia Coratti is a paediatric rehabilitation specialist and clinical researcher focusing on DMD at the Fondazione Policlinico Universitario Agostino Gemelli in Rome, Italy. Her role encompasses assessing patients, creating personalised rehabilitation plans, and coordinating care teams in the community. Giorgia says: “I emphasise a holistic approach to care, ensuring that our rehabilitation plans not only address physical needs but also consider cognitive, emotional, and social well-being. This includes integrating mental health support, adapting educational plans, and enhancing social skills, which are all crucial for overall quality of life. Our team uses the latest evidence-based practices and continuously adapts our strategies based on new research findings to provide the best possible care. On the research side, my work involves studying the progression of DMD, investigating potential new interventions, evaluating rehabilitation outcomes, and contributing to patient registries to improve clinical guidelines and care standards.”

We asked Giorgia how she got started in Duchenne, she said: “What truly inspired me to specialise in Duchenne was witnessing the incredible resilience and strength of my first DMD patients and their families. Their unwavering determination to lead fulfilling lives despite the challenges of this condition profoundly moved me. These experiences, combined with the opportunity to work alongside leading experts in DMD, have only fuelled my passion and commitment to contribute to this field and make a positive difference in the lives of those affected.”

Giorgia believes that clinical care can have the most immediate impact on patients’ lives by improving their daily functioning and quality of life. She says: “My research aims to create a long-term impact by gaining a deeper understanding of the disease’s progression and individual variations. For instance, by identifying specific markers or patterns in how the disease progresses, we can develop more personalised rehabilitation strategies tailored to each patient’s unique needs. This personalised approach can help slow down disease progression while significantly enhancing daily life activities, independence, and overall well-being. My goal is to ensure that every patient receives care that is as unique as they are.”

Stefan Nicolau is a fellow in gene therapy at the National Children’s Hospital in Columbus, Ohio, USA. His lab aims to develop novel gene editing therapies for DMD. He says: “The last few years have seen many advances in microdystrophin gene therapy and exon skipping, yet there remains a need for approaches capable of restoring expression of full-length dystrophin expression in a durable fashion. Because most DMD patients have large deletions in the gene, our focus is on gene editing strategies that can replace single or multiple exons. We are hoping to close the gap that currently exists between proof-of-concept in vitro development of gene editing techniques and their in vivo application to neuromuscular disorders. We also aim to investigate and address the obstacles to in vivo muscle gene editing, including viral delivery mechanisms, muscle regeneration, and immune responses.”

He specialised in Duchenne soon after starting his neuromuscular training when he saw the great need for therapies in so many inherited muscle disorders. He describes his early career: “At Nationwide Children’s Hospital, I was fortunate to have the opportunity to meet boys and young men with DMD, as well as to train with some of the pioneers of neuromuscular gene therapy. Through these interactions, I discovered the close collaboration between patient families, scientists, and clinicians that has been established in the DMD field, and in which I look forward to participating through my work as a clinician-scientist.”

Stefan hopes his work will lead to novel therapeutic approaches for DMD based on gene editing and that the full-length dystrophin protein will have a stronger therapeutic effect than can be achieved through other means. He describes the work his lab is doing: “Some of the approaches we are developing target entire regions of the DMD gene, which potentially opens the way to expression of long dystrophin isoforms in patients with mutations that are either not amenable to exon skipping, or whose rarity complicates development of targeted therapies.”

Juanma Fernández Costa is a senior researcher in the Biosensors for Bioengineering Group at the Institute for Bioengineering of Catalonia in Spain. His work primarily focuses on integrating tissue engineering, organ-on-chip technology, and biosensors to create advanced models for studying human diseases. In particular for Duchenne muscular dystrophy, his research group has developed 3D functional skeletal muscle tissues derived from patient cells. Juanma says: “These engineered tissues are capable of contracting in response to electrical stimulation, effectively replicating the sarcolemma fragility characteristic of DMD muscle. This model provides a valuable platform for investigating the underlying pathomechanisms of the disease and for testing potential treatments.

“Currently, we are advancing this model by integrating it into an organ-on-chip device, which is coupled with our biosensor technology to monitor muscle damage in real-time. This innovative approach allows for more precise and dynamic assessment of disease progression and treatment efficacy. Additionally, in collaboration with Prof. Jordi Diaz-Manera at the John Walton Muscular Dystrophy Research Centre, we are exploring the fibrotic processes within these 3D skeletal muscle models. This work is crucial for understanding how fibrosis contributes to disease progression and for identifying new therapeutic targets.”

Juanma’s scientific career has been dedicated to developing biomedical models for muscular dystrophies, with the aim of understanding the underlying molecular mechanisms, identifying potential therapeutic targets, and discovering effective treatments for these rare diseases. He says: “Initially, my research was primarily focused on Myotonic dystrophy syndromes. However, my specialisation in Duchenne Muscular Dystrophy (DMD) began through a meaningful collaboration with the Duchenne Parent Project Spain. Their scientific director, Dr. Marisol Montolio, recognised the potential for our technology in creating functional muscle models, particularly given our success with Myotonic dystrophy. She approached us with the idea of applying our expertise to Duchenne. This collaboration has since evolved over the past five years, during which we’ve worked closely to develop the DMD-on-Chip platform, a cutting-edge tool for advancing research and potential therapies for Duchenne.”

Juanma says his ultimate goal is to significantly enhance the drug development process for Duchenne by accelerating drug screening, which will allow researchers to quickly identify promising candidates. He says: “Since our models are derived directly from patient cells, we believe this personalised approach will increase the success rate of drug development by more accurately predicting patient responses. Our mission is to develop more precise and reliable disease models, which we hope will lead to more effective treatments and, ultimately, a better quality of life for patients with Duchenne.”

Evelien Fleerakkers works as a physiotherapist and a PhD researcher at the Leiden University Medical Center in the Netherlands. Her work focuses on neuromuscular disorders in children and in particular Duchenne Muscular Dystrophy (DMD). Evelien says: “The central goal of my research is to gain knowledge on physical functioning and joint mobility and to make exercise and physical activities more accessible for children with Duchenne.

“Currently, these children face numerous barriers that limit their ability to engage in physical activities. Our latest work, which I will present at the World Muscle Society Congress, examines the impact of ankle contractures on functional outcome measures. The aim is to identify which muscles contribute to ankle contractures and impact functional outcomes, to improve strategies for preventing contractures.”

We asked Evelien how she hopes her work will impact patients with Duchenne. She replied: “I hope our work will lead to more targeted treatment strategies that help maintain and improve mobility in children with Duchenne. The goal is to extend the duration of their functional abilities and allow patients to stay active for a longer period, which is important for their overall well-being and quality of life.”

Linda Lowes is the Principal investigator in the Center for Gene Therapy at the Abigail Wexner Research Institute at Nationwide Children’s Hospital in Ohio, USA. She provides care to boys and men with DMD in the Center’s multidisciplinary care clinics. She says: “As a researcher, I focus on clinical trial readiness. This involves the preparatory work that is needed prior to designing a clinical trial. I run natural history studies so that decisions on aspects of the trial such as sample size, duration and inclusion criteria can be data-driven rather than based on previous studies or the investigator’s best guess. During the natural history trials, I can identify which outcome measures are able to quantify meaningful changes in a subject’s abilities in a reliable and valid manner. I use this information to modify an existing measure or create a new outcome measure if needed.”

Linda came to specialise in Duchenne by accident. She describes her journey: “Dr. Jerry Mendel was pioneering gene therapy treatments at Nationwide Children’s Hospital and the physical therapist that was working on his trials relocated. There were not many physical therapy researchers in the hospital so I was asked to temporarily fill in. Fifteen years later, I still love working with the patients and families with DMD. Sometimes, the best life decisions are not planned. I am very grateful for my accidental invitation into the DMD community.”

Describing the over-arching goal of her work , Linda says: “I’m working to reduce the likelihood of ambiguous clinical trial results. By gathering natural history data and evaluating and creating new outcome measures to quantify change I can provide data to help design a trial with the best chance of providing a definitive answer to whether the therapeutic is safe and effective. The patient, family and community invest so much time, hope and money into trials it is devastating when a definitive answer about the safety and efficacy of the product isn’t available in the end.

“While I would like every trial to bring a successful treatment to the community, a negative trial is better than one without a clear answer. Ambiguity doesn’t allow for evidence-based decisions on whether work should continue on the development of a specific therapeutic. If a compound isn’t showing promise, the next best thing would be to “fail fast” and funnel the limited resources into something that is showing promise. One of the hardest conversations I have with families is when I have to admit that “we just don’t know” because there is insufficient science behind many of the things we do.”

Finally, we asked all our featured members what their hopes are for the future for patients with Duchenne, these are their responses:

Chloe Geagan

“I hope that more families get the support that they need (whatever that might look like) earlier in their journey with Duchenne, so that they can live their life doing the things that are important to them.”

Giorgia Coratti

“Beyond my current work, I have hopes that go beyond individual care—hopes for systemic change. I envision a future where patients with Duchenne have access to comprehensive care that is not only reactive but also proactive – anticipating their needs and addressing them before they become challenges. Advances in digital health tools could enable continuous monitoring and timely interventions, while personalised medicine could offer targeted therapies that significantly improve outcomes. Global collaboration among healthcare providers, researchers, and patient organisations could lead to more inclusive and accessible treatments worldwide.

“More than anything, I hope to see a strong, united community where every patient feels supported, no family feels isolated, and everyone has the resources and encouragement needed to face their journey with strength and resilience.”

Stefan Nicolau

“I am hoping for a future in which all patients with DMD have access to the highest quality of care, regardless of where they live, and to interventions that will maximise their function and independence. Recent years have seen a transformation in the field through the introduction of several new DMD therapies. All of us will now be working to gather more data on their risks and benefits in different groups of DMD patients, in order to make the most out of these drugs through individualised treatment approaches.”

Juanma Fernández Costa

“My hopes for the future of patients with Duchenne are rooted in both optimism and a realistic understanding of the challenges we face. While significant progress has been made, it hasn't come as quickly as patients and their families desperately need. Reflecting on the advancements, it's clear that both basic and clinical research have led to a substantial improvement in patient outcomes. Current treatments and physical therapy have effectively delayed the progression of symptoms and extended life expectancy.”

Evelien Fleerakkers

“My hope for the future is that children with Duchenne will have the opportunity to participate in all sports and activities, just like their peers. This inclusion is essential not just for their physical health but also for their social development and emotional well-being. I envision a future where advancements in treatment and therapy allow these children to lead more active lives with fewer limitations.”

Linda Lowes

“When I meet a family who recently learned that their child has muscular dystrophy, they frequently ask me what is the most important thing to do to help their child. My answer is always the same. The best thing they can do is to try to raise a child that is happy and able lead a fulfilling life. I hope that all individuals with DMD are able to live a meaningful life. Obviously, a cure is ideal, but until that time I hope that society moves to be accepting of individuals with DMD and works to provide the support needed for every person to succeed.”