WHAT IS DUCHENNE?

Duchenne muscular dystrophy (DMD) is the most common muscle disease of childhood. One in every 3,500 newborn boys have Duchenne. Very rarely it also affects girls (approximately 1 in 50 million girls). It occurs across all races and cultures.

Symptoms of Duchenne usually appear between ages two and five years and may include difficulty: running, jumping, climbing and rising from the floor, frequent falls, enlarged calf muscles, toe walking and delays in language development. The first muscles affected are those around the hips and upper thigh. Weakness gradually progresses to include all the muscles used for movement (skeletal muscles), the muscles used for breathing and the heart.

WHAT IS MUSCULAR DYSTROPHY?

Muscular dystrophy is a broad term used for more than 30 genetic disorders that cause muscle weakness and wasting.

The different types of muscular dystrophy differ in the age that symptoms appear (from infancy to middle age or later), the areas of the body that are affected and the severity of symptoms. Becker muscular dystrophy is closely related to Duchenne but it is less severe and the symptoms usually appear later.

All types of muscular dystrophy are considered rare, but Duchenne is the most common form in children.

WHAT TO KNOW ABOUT LIVING WITH DUCHENNE.

“Duchenne affects 1 in every 3,500 newborn boys and very rarely it also affects girls.”

WHAT TO KNOW ABOUT LIVING WITH DUCHENNE.

“(DMD) affects 1 in every 3,500 newborn boys and very rarely it also affects girls.”

DIAGNOSIS

The first few days, weeks and months after a diagnosis of Duchenne can be overwhelming and distressing as you try to understand and absorb this diagnosis and learn everything you can.

GENETICS

Duchenne is caused by a change to a gene that provides the instructions for the production of the protein called ‘dystrophin. As a result very little or no dystrophin protein is produced.  

LIVING

There are many challenges ahead for those living with Duchenne. Cardiac and respiratory care being the two most important areas of concern for a person living with Duchenne.

DIAGNOSIS

The first few days, weeks and months after a diagnosis of Duchenne can be overwhelming and distressing as you try to understand and absorb this diagnosis and learn everything you can.

GENETICS

Duchenne is caused by a change to a gene that provides the instructions for the production of the protein called ‘dystrophin. As a result very little or no dystrophin protein is produced.  

LIVING

There are many challenges ahead for those living with Duchenne. Cardiac and respiratory care being the two most important areas of concern for a person living with Duchenne.

UNDERSTANDING RESEARCH

Understanding the research that is being undertaken to find a cure or potential therapy for Duchenne and Becker can be daunting.

There are different research projects underway using some different methods in the fight to cure Duchenne, so to help you understand these we have provided an overview here.

News on the development of drugs for Duchenne can be found on the Save Our Sons Research News page. You can also keep up-to-date by liking the Save Our Sons Facebook page.

For additional information head to our registry program DuchenneConnect Australia.

Exon skipping drugs tell the cell’s DNA reading machinery to ignore, or skip over, a piece of the dystrophin gene (exon) so that the remaining exons can be pieced together, albeit in a shortened form. It is hoped that this will reduce the symptoms of Duchenne to a severity similar to that experienced by men with Becker muscular dystrophy.

Exon skipping is not universally applicable to all boys with Duchenne because the drugs are designed for a patient’s particular genetic error.

One exon skipping drug called ‘Exondys 51’, developed by Sarepta (www.sarepta.com), has gained conditional regulatory approval in the USA.

This approach aims to increase the amount of a protein called utrophin in the body so that it can substitute for the dystrophin protein that is missing in boys (and rare girls) with Duchenne. The first drug in clinical trial using this approach is called ezutromid which is being developed by Summit Therapeutics. For more information visit: www.utrophintrials.com. Other utrophin drugs are also in development.

Drugs that are designed to treat Duchenne caused by a change in the DNA called a ‘nonsense mutation’ are in development. About 10 to 15 percent of individuals with Duchenne have this type of mutation. Translarna (also known as ataluren and PTC124) is one such drug and a phase 3 clinical trial has been completed. Translarna has been given conditional regulatory approval in Europe and is available in some countries around the world, however it is an expensive drug so not everybody is able to access it.

The aim of gene therapy for Duchenne is to introduce a healthy synthetic copy of the dystrophin gene into the muscles so that dystrophin protein can be made. A virus is used to deliver the gene into the cells. Several challenges exist with this approach but scientists are working to overcome them and clinical trials are planned to start in 2017.

Genome editing utilises ‘molecular scissors’ to make precise, targeted changes to the DNA. This technology has the potential to correct genetic mutations by adding, removing or replacing parts of the DNA. Recent research that used this technology to treat mice with Duchenne has created great excitement as it has the potential to be an effective, long lasting therapy for Duchenne. However, it is still a long way from being tested in clinical trial.

In this procedure donor cells are injected into damaged muscle in the hope that they will fuse with the diseased muscle and create some healthy muscle fibres. Alternatively, the patient’s own stem cells could be isolated, grown in the lab, the genetic mistake corrected using gene therapy and transplanted back into the patient. Research is ongoing into these two stem cell approaches.

A clinical trial is being conducted by Capricor Therapeutics testing cell therapy to treat the heart problems in Duchenne.

It is important to note that there are currently no licensed stem cell treatments for muscular dystrophy. There are clinics that offer expensive stem cell treatments but the safety and benefit has not been tested in clinical trial. This means the treatment may be ineffective and even dangerous.

Increasing evidence suggests that processes that go on inside the muscle as a result of the lack of dystrophin cause or contribute to the symptoms of Duchenne and drive disease progression. These processes include inflammation, fibrosis (the formation of scar tissue) and a reduced capacity for the stem cells inside the muscle to repair damage. Many therapies are being developed to address these areas with the hope that they will be able to slow down the progression of Duchenne, especially when combined with each other or in conjunction with therapies that restore dystrophin production.

CAN GIRLS BE BORN WITH DUCHENNE?

A girl could have Duchenne if both of her copies of the dystrophin gene are faulty either through two spontaneous mutations or she inherits a faulty dystrophin gene AND her second ‘back-up’ copy of the dystrophin gene acquires a spontaneous mutation. This is extremely unlikely, and it is thought to be more probable that the whole X chromosome that carries the healthy copy of the dystrophin gene is ‘switched off’. This prevents it being used to make dystrophin.

CAN GIRLS WITH DUCHENNE
PARTICIPATE IN CLINICAL TRIALS?

Generally clinical trials for Duchenne are restricted to boys with Duchenne because for a trial to be successful, all of the participants need to be as similar as possible and often they are also restricted in terms of age, walking ability and other factors. This makes measuring if a treatment is working easier and more accurate and therefore clinical trials can be of shorter duration and give answers more quickly. Since there are so few girls with Duchenne, and the severity of their symptoms is very variable, it would be near impossible to set up a clinical trial just for them. However, the treatments being tested in clinical trials by boys are expected to also work for girls, so once they are proven to work, they should be also made available to girls.Research is ongoing to further understand Duchenne in girls and what causes it.

READ MORE

STANDARDS OF CARE FOR DUCHENNE

In January 2010 a document setting out best practice in care for Duchenne muscular dystrophy was released by TREAT-NMD and first published in the medical journal The Lancet. It is the product of a three-year long project by 84 international Duchenne experts to review all of the available evidence on the best way to care for those with Duchenne.

These recommendations were made into a Family Friendly Guide and is available for download on the TREAT-NMD website (available in many different languages).

There is also an online guide for handy access on your smart phone or tablet.
These guidelines are due to be reviewed and published in 2017. We will update this information as soon as it is available.


All types of muscular dystrophy are considered rare, but Duchenne is the most common form in children.

STANDARDS OF CARE FOR DUCHENNE

In January 2010 a document setting out best practice in care for Duchenne muscular dystrophy was released by TREAT-NMD and first published in the medical journal The Lancet. It is the product of a three-year long project by 84 international Duchenne experts to review all of the available evidence on the best way to care for those with Duchenne.

These recommendations were made into a Family Friendly Guide and is available for download on the TREAT-NMD website (available in many different languages).

There is also an online guide for handy access on your smart phone or tablet.
These guidelines are due to be reviewed and published in 2017. We will update this information as soon as it is available.


All types of muscular dystrophy are considered rare, but Duchenne is the most common form in children.

TRANSITION FROM CHILD TO ADULT SERVICES

Improvements in clinical care over the last decade, has seen the life expectancy for Duchenne increase by 10 years. This improved care has led to more and more men (and rare women) with Duchenne living well into adult years, challenging the notion of Duchenne as a “paediatric” disease.

These young people face particular challenges, not only medical (e.g. associated with long-term steroid usage, orthopaedic, respiratory, ventilation, and cardiac, gastrointestinal or genitourinary problems), but those associated with wider issues of transition.
These include medical transfer from paediatric services to adult services, and social transition to independent living, further education, finding employment and inclusion in society.

Transfer to adult facilities varies considerably between clinics and across Australia, but it is often problematic. Duchenne requires co-ordinated care, and adult serves are often disjointed by comparison to cohesive paediatric clinics. Successful transition should be the culmination of a period of planning and collaboration with your current medical team and the team in the adult services.

Wider social transition, enabling independent living and further education/employment, is also very important. However, as with people with other disabilities, adults with Duchenne face obstacles. There are many success stories, and a lot can be learned from their positive attitude, resilience and persistence. Planning for a productive adulthood from an early age is essential.

TRANSITION FROM CHILD TO ADULT SERVICES

Improvements in clinical care over the last decade, has seen the life expectancy for Duchenne increase by 10 years. This improved care has led to more and more men (and rare women) with Duchenne living well into adult years, challenging the notion of Duchenne as a “paediatric” disease.

These young people face particular challenges, not only medical (e.g. associated with long-term steroid usage, orthopaedic, respiratory, ventilation, and cardiac, gastrointestinal or genitourinary problems), but those associated with wider issues of transition.
These include medical transfer from paediatric services to adult services, and social transition to independent living, further education, finding employment and inclusion in society.

Transfer to adult facilities varies considerably between clinics and across Australia, but it is often problematic. Duchenne requires co-ordinated care, and adult serves are often disjointed by comparison to cohesive paediatric clinics. Successful transition should be the culmination of a period of planning and collaboration with your current medical team and the team in the adult services.

Wider social transition, enabling independent living and further education/employment, is also very important. However, as with people with other disabilities, adults with Duchenne face obstacles. There are many success stories, and a lot can be learned from their positive attitude, resilience and persistence. Planning for a productive adulthood from an early age is essential.

DMD Pathfinders

Promoting choice, control and quality of life for teenagers and adults with Duchenne muscular dystrophy

READ MORE

DMD Pathfinders

Promoting choice, control and quality of life for teenagers and adults with Duchenne muscular dystrophy

READ MORE