New treatments offer hope for boys with Duchenne muscular dystrophy | Action Medical Research

Touching Lives - April 2016

New treatments offer hope for boys with Duchenne muscular dystrophy

It is heartbreaking for parents to see their child gradually deteriorate with this devastating disease. New gene therapy treatments, developed with support from Action, are showing promising results for the future.

Every year in the UK around 100 boys are diagnosed with Duchenne muscular dystrophy. Tragically, these children face a relentless deterioration in their physical abilities. They eventually become paralysed, depending on others for round-the-clock care, and many lose their lives by their late twenties.

The condition is caused by faults in a gene which plays a vital role in making muscles work properly. This gene should produce an essential protein called dystrophin, needed for healthy muscle movement. The lack of dystrophin causes the muscle wasting and weakening faced by boys with Duchenne and, sadly, most lose their ability to walk between the ages of 10 and 14.

There is currently no cure for Duchenne and treatments are limited. New therapies to slow the progression of the disease and improve quality of life are urgently needed.

HOW WE'VE HELPED

In 1997 Action awarded just over £134,000 to a research team, led by Professor George Dickson, who has dedicated his career to discovering and developing treatments for Duchenne.

Professor Dickson wanted to see if a new type of gene therapy could be developed to restore some function to the faulty dystrophin gene and thereby slow down the disease’s progression.

This work was at its earliest stages in the laboratory and showed that this type of treatment could indeed work. This early research, funded by Action, has since contributed to the development of a new class of medicines which are now finally being offered to boys with Duchenne in clinical trials.

The new medicines are showing promising results and appear to slow down physical decline. Those taking the drugs have experienced improvements in their walking and breathing.

It is hoped the new treatments will allow boys to remain independent for longer, improve their quality of life and, ultimately, allow them to live longer. It is estimated that 80 percent of all boys with Duchenne could eventually benefit from these new medicines.

This work, Professor Dickson says, is ‘a tremendous legacy for the charity to be proud of ’.

“The success of the original drug development and the clinical trials derives at least in part from the proof-of-concept studies that Action supported. It all has to start somewhere,” says Professor Dickson.

With your help, we continue to support the development of treatments for Duchenne. Action is currently funding research led by Professor Volker Straub at Newcastle University. This aims to develop another new medicine which could increase muscle strength and slow down disease progression.

This new research has been supported by generous donations including those from The Henry Smith Charity and The Montague Thompson Coon Charitable Trust.

For families like Tom’s, research offers vital hope.

TOM'S STORY

Tom, pictured, was diagnosed with Duchenne when he was four, but his parents were concerned about him from his earliest days. He had been slow to reach milestones like crawling and walking. He couldn’t bounce on a trampoline like other toddlers, fell over a lot and walked awkwardly.

A specialist initially diagnosed a problem with his thigh bones and said this would correct itself. But by the time Tom started school his mum Rebecca and dad Gary were still worried and insisted on a referral to a paediatrician.

The paediatrician did a blood test ‘to rule out a couple of rare conditions’ and the next morning Rebecca received a devastating, life-changing phone call. She was told that her little boy had muscular dystrophy.

Tom’s sister, Amy, was just a week old at the time. “I remember my tears streaming down onto her head,” says Rebecca. “It was such a shock. It seemed so improbable that my gorgeous son would eventually become locked in a body he could not move and die.”

Further tests revealed that Tom had Duchenne, the most severe form of the disease.

A DAUNTING FUTURE

Now aged eight, Tom is at a stage where it is difficult for his parents to know how honestly to answer his questions. “He asked me when he would learn to hop,” says Rebecca. “Do I shatter his enthusiasm and reply honestly that he never will? I dread the day when we have to tell him this condition will take his life at a young age.”

Advised to be proactive, the family bought a dilapidated bungalow, which they are restoring and adapting for Tom’s future needs. He currently copes well in mainstream school and his parents aim to keep him as included as possible for as long as they can.

For families like Tom’s, the future is daunting. Research, like that funded by Action, could give them more time together.

“Potential treatments mean everything to us. Too many parents have lost their children to this horrendous condition,” says Tom's mum, Rebecca.

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