Research into new treatments
There is currently no cure for Duchenne, but there is hope. We are at the forefront of advancing treatments and care for everyone affected by the disease.
As the UK's largest funder of Duchenne research, we're funding groundbreaking science to treat not only the symptoms of the disease, but also the underlying causes.
Most of the current treatments for Duchenne do not address the underlying cause: the body’s inability to produce dystrophin. We want to better understand and target the causes of Duchenne so that we can stop the disease in its tracks. That’s why we’re funding revolutionary treatments like gene editing, looking at ways to correct mutations in the dystrophin gene to allow people with Duchenne to generate functional dystrophin.
We also recognise the urgent need to improve the quality of life of those living with Duchenne today. We fund research into treatments and therapies to treat Duchenne’s symptoms and help patients live longer, healthier lives.
Treatment pipeline
The following are emerging therapies with promise for treating the underlying causes of Duchenne that researchers and industry are working to develop.
CONVENTIONAL THERAPIES
Most drugs available to patients today areconventional therapies that consist ofeither synthetic compounds or proteins, such as antibodies, given either as pills or injections. Duchenne is no different, with therapies such as corticosteroids fallinginto this category.
Although these technologies have been available fora long time, there is still a lot of potential in newconventional therapies for Duchenne. There are examples of potential therapiesof this type at multiple stages of development, designed, for example, to reduce muscle damageand scarring, promote muscle regeneration and protect the heart. Conventional therapies remain a rich area of research and development with the potential toimprove symptoms and quality of life for people living with Duchenne.
GENE THERAPY
One potential treatment type being investigated for Duchenne is gene therapy. This involves delivering new genetic material to cells to overcome errors (or mutations) in the dystrophin gene. Duchenne gene therapy aims to deliver a working version of the dystrophin gene, so that the body can produce dystrophin. Gene therapy offers hope as a future treatment for Duchenne, particularly as it has been able to halt the progression of other conditions such as spinal muscular atrophy (SMA).
However, Duchenne is a complex condition. To work, gene therapy needs to reach the skeletal muscles and the heart. Skeletal muscle is the largest organ in the body and grows with time. The current limitations of gene therapy delivery to muscle mean that they are not yet as effective as needed to have a transformative impact on the disease. The dystrophin gene is the largest identified gene in the human genome, which presents additional challenges for current gene therapy delivery mechanisms, which have a limited capacity. Work is being done to overcome some of these barriers, with multiple potential gene therapies in clinical development, but there is more still to do.
STEM CELLS
In recent years, considerable research effort has been directed to developing cell therapy as a new therapeutic option to treat Duchenne. Cell therapies can consist of either stem cells, which are able to form multiple different types of cells, including muscle, and differentiated cells, which represent just on specific cell type. Stem cell-based therapies aim to replenish the muscle cell pool with cells containing dystrophin that can promote muscle regeneration. Other cell therapies are in development that do not replace muscle but instead produce signals that reduce inflammation and muscle damage. This is an area that scientists continue to explore and there are cell therapies at various stages of clinical and early development.
GENE EDITING
Gene editing, or genome editing, is a technology that enables the editing of parts of the genome (the body’s set of genetic instructions) by removing, adding or altering the DNA sequence. This is a new area of research that has the potential to make precise, targeted changes to correct the mutations that cause diseases like Duchenne.
Researchers have developed techniques that use enzymes (called endonucleases) that work like a pair of molecular scissors to cut the DNA at a specific location. Once the DNA has been cut, the body tries to repair it. This approach can be used to remove deletions that prevents dystrophin being produced, as well as other mutations that prevent the genetic sequence from being read. To date, gene editing has been mainly tested in animal models. As with gene therapy, there are several challenges to delivering it as a treatment.
EXON SKIPPING
The active part of the dystrophin gene is made up of 79 pieces called exons. These exons link together to form a code that is read in cells so that the protein, dystrophin, can be made.
In Duchenne, some of the exons are not readable, meaning that very little or no dystrophin is made. Exon skipping drugs hide or ‘patch’ the missing piece so that the exons fit together again and can be read. This means that a functional, although shorter, dystrophin protein can be produced by the body. As exon skipping drugs are designed to skip over a particular exon, they are therefore mutation specific and can only be used in the patients with specific mutations.
There are four approved exon skipping treatments in the US. However, the efficacy of these first-generation exon skipping treatments is still being assessed. They are not currently available to patients in the UK outside of clinical trials. Researchers and drug developers are working to further develop these treatments and there are second generation treatments now in clinical trials.
Repurposing treatments
Research is taking place to explore whether existing treatments for other conditions can be repurposed to treat the symptoms of Duchenne.
This is an important area of research, not only for the therapeutic possibilities, as repurposed drugs also have a signific antadvantage in decreasing the development cost and time to market over standard discovery, given that they have already been tested in people in other settings.
We believe that there is a significant research opportunity for repurposing of cardiac treatments for example, as well as in areas such as psychosocial care.
Clinical trials
Clinical trials are research studies that explore whether a medical treatment is effective and safe for humans.
Duchenne UK launched the DMD Hub, now Duchenne Hub UK, in 2016 to address the lack of clinical trials for Duchenne available in the UK. The Duchenne Hub UK is a network of trial sites with trained staff, funded to carry out clinical trials for Duchenne. To date the Hub has supported 81 clinical trials, accelerating the development of new treatments for Duchenne.
You can search the latest clinical trials here and register your interest in taking part in clinical trials via our Duchenne Hub UK page.
Delivering new treatments
Our work through Duchenne Hub UK and our direct investment in research projects and clinical trials has helped bring forward new treatments.
Duchenne UK funded the development of the first ever treatment to treat all patients with Duchenne regardless of their genetic mutation, vamorolone (Agamree). Vamorolone, which was approved in 2024, is an alternative steroid with fewer side effects to traditional corticosteroids.
Fuelled by a desire to provide more treatment options for Duchenne, we invested in and supported vamorolone’s development from the initial laboratory researchthrough to its assessment by the National Institute for Health and Care Excellence (NICE).
Duchenne UK, along with our partner charities, Joining Jack and the Duchenne Research Fund, invested £750,000 towards a Phase 1 clinical trial in boys with Duchenne in 2015. We then advised on the Phase 2 trial protocol and funded the clinical research site for the vamorolone, as well as the Principal Investigator for the study. This then enabled the pharmaceutical company behind the medicine, ReveraGen, to win a £6 million grant from Europe’s Horizon in 2020 to support the development of vamorolone.
