A new animal model of Duchenne muscular dystrophy

In this project, Professor Richard Piercy and his team will study dogs with naturally occurring Duchenne muscular dystrophy which may offer benefits over other currently used animal models of the condition. The researchers will carry out detailed investigations of skeletal and heart muscle function to better understand their symptoms and will assess their similarities to the human condition. The study should help the development of potential new treatments, ensuring that the best ones are taken to clinical trials as quickly as possible.

Professor Piercy and his team now have all of the animals required for the project and have begun their study. With the grant from Muscular Dystrophy UK, the team from the Royal Veterinary College has been able to recruit a specialist veterinary cardiologist to the project. The team have also purchased sophisticated equipment that is allowing them to non-invasively assess muscle strength and heart function as the dogs get older. This is essential, because a thorough understanding of how the condition progresses naturally in these animals then will allow them to determine and examine responses to treatments.

Next year Professor Piercy and his team will be analysing the large amount of data collected from the animals. An update on the work was presented at the European College of Veterinary Neurology annual meeting in Edinburgh in September 2016.

During the second year of this project, Professor Richard Piercy and veterinary cardiologist, Dr Julia Sargent, have been assessing muscle function in both DMD affected and healthy dogs. Using specialised equipment funded by this grant, they have started to monitor the changes in muscle strength as the dogs’ age.

Dr Julia Sargent has been using multiple techniques to assess any changes in the dogs’ heart structure, size and pumping ability. She is also working alongside clinical experts at Great Ormond Street Hospital to further analyse the structure of the dogs’ hearts.

In the final year the researchers will continue to collect information on the dogs’ muscle and heart function as they age. This detailed analysis will inform the researchers whether the DMD affected dogs have similar heart and muscles problems as seen in humans with Duchenne.

What are the researchers aiming to do?

Animal models are essential for medical research, providing a way of studying the progression of a condition as well as being useful for testing potential treatments. Mice are often used as models of Duchenne muscular dystrophy, but dogs with muscular dystrophy are also commonly used, especially for assessing potential new treatments for safety and effectiveness before they are tested in clinical trials (pre-clinical testing).

Dogs display stronger visible symptoms than the most commonly used mouse model of Duchenne muscular dystrophy, the mdx mouse, but are large and expensive to maintain. In 2010, a Cavalier King Charles Spaniel with Duchenne muscular dystrophy was discovered by chance when he was seen as a patient at Royal Veterinary College with symptoms resembling the human condition. The dog had a mutation in the same hot spot region of the dystrophin gene that is commonly mutated in humans.

Professor Piercy and his team have now worked with dogs related to this Cavalier King Charles Spaniel and they have been performing simple clinical assessments on them to gain a basic understanding of their condition. However, further investigations are needed to fully understand the extent of the symptoms in these dogs and to assess how similar they are to human symptoms.

This project will assess the function of the skeletal and heart muscle in the dogs over two years. The researchers will analyse how rapidly weakness develops in muscles as the dogs age and the extent to which they develop heart problems. The results will be analysed in conjunction with other experimental data to ensure the symptoms of the dogs are thoroughly understood. The work will determine how similar the dogs’ condition is to that seen in humans and indicate the extent to which they could be studied to advance the management of this disease in humans. The award will fund a part time specialist veterinary cardiologist to carry out the work and provide new state of the art equipment for assessing skeletal muscle function.

If the results show the dogs’ disorder mirrors that of human Duchenne muscular dystrophy the animals will offer a real advance for translational medicine for testing potential new treatments before they are considered for clinical trials. Professor Piercy and his team already have plans to test compounds that they and others have identified using cell and mouse models.

Veterinary medicine will also benefit from this research as new treatments for muscular dystrophy and related genetic conditions could also be applied to dogs where currently also no viable long-term treatment exists.

How will the outcomes of the research benefit patients?

This project will generate valuable data on a new breed of dog with Duchenne muscular dystrophy that will be relevant to both human and veterinary medicine. The results will indicate the usefulness of these dogs as an animal model of the condition. A new animal model that more closely replicates the condition seen in humans will be extremely valuable for preclinical testing and could advance the movement of potential new treatments into clinical trials.

Grant information

Project leader: Professor Richard Piercy
Location: Royal Veterinary College
Condition: Duchenne muscular dystrophy
Duration: three years, starting 2015
Total project cost: £123,794
Official title: Functional assessment of cardiac and skeletal muscle phenotype in ΔE50-MD dog model

For further information

Read more about Duchenne muscular dystrophy.

Read more about research we are funding into Duchenne muscular dystrophy.

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