Why we want to End Duchenne in Ten
Joe Gardiner, 4 mins read
Duchenne muscular dystrophy is a devastating disease; it’s the most common fatal genetic disease diagnosed in childhood, it’s 100% fatal and there is no cure.
Those affected by Duchenne, most of whom are boys, will be in a wheelchair by the age of 10-12 years and few live much beyond their 21st birthday.
Emily Crossley, who with her husband Nick founded the Duchenne Children’s Trust, says, “The awful thing about this disease is that it forces you to face your child’s mortality every minute of every date, and that’s a grief that no parent should have to endure.”
Emily talks about when her son, Eli, was diagnosed, “When we found out about the diagnosis, the doctor said: ‘There’s nothing you can do, go home and give him the best life’. We chose not to accept the disease; we chose to fight, so we set up the Duchenne Children’s Trust.”
That was three-and-a-half years ago and since then the charity has raised £3.5 million to fund primary research into treatments for the disease.
Each year we all decide on the charity that TotallyMoney.com will support; a proportion of our profits are donated to the charity and any money raised by individual staff members is matched by the company.
Duchenne Children’s Trust is our nominated charity and our corporate commitment, along with the individual fund-raising efforts staff, have generated just over £22,000 for the charity.
Alastair Douglas, CEO, says “We’re really pleased to be supporting Duchenne Children’s Trust this year and it’s great to hear from Emily about the successes they’ve had funding research.”
Alastair Douglas, CEO, with Duchenne Children’s Trust founder Emily Crossley
“Our mission is to save this generation of boys,” says Emily. “Our absolute focus is on research that we believe will deliver treatments within five to ten years.”
When you look at the precedent of HIV, this is achievable. In 1988, on World AIDS Day, HIV was an incurable, fatal disease. Within ten years, it had become a chronic, but manageable disease for people living in countries that could afford to pay for the drugs.
Duchenne Children’s Trust has taken a pioneering approach to funding clinical trials. By backing phase 1 trials and proving a treatment’s effectiveness, they help leverage investment in the phase 2 studies that are needed to persuade the regulators that the drug works. They call this the ‘multiplier effect’.
Emily says, “A phase 2 study costs £10-20 million. We don’t have that; but we have £1 million, and if we invest in the phase 1 trial and prove that that drug works, then the big money will come in.”
And the money is coming in. Duchenne Children’s Trust, in collaboration with two other charities that are fighting Duchenne, Joining Jack and Duchenne Research Fund, has provided $6 million to fund early-stage clinical trials, which has brought in $54 million of further investment.
“Now is a time of enormous hope,” says Emily. “Thanks to recent breakthroughs, treatments are now tantalisingly close. What those treatments need is the money to get them out of the laboratory and into the clinic.”
Many drugs currently in development treat the symptoms of Duchenne, but gene therapy, which gets to the cause of the disease, is causing a lot of excitement.
Duchenne Children’s Trust-funded research by Solid Biosciences has produced a gene therapy treatment that can help all boys with Duchenne, young or old, regardless of the mutation they have.
Emily says, “Our early investment helped them to drive that programme and they now have the best-funded gene therapy trial in history; $42 million.”
Duchenne is a complex disease and many symptoms need treatment.
Steroids are commonly prescribed to treat the symptoms of Duchenne, but they come with side-effects such as growth restriction. A non-hormonal version, with all the benefits of traditional steroids, but none of the side effects, has been developed by ReveraGen.
Duchenne Children’s Trust, in association with Joining Jack, invested $1 million in the successful phase 1 trial. Off the back of that, ReveraGen has raised a further $12 million to fund the phase 2 trial.
One of the challenges for research in the UK is that there aren’t enough doctors and nurses to carry out the clinical trials.
In August 2015, Duchenne Children’s Trust identified four centres of excellence facing a shortage of medical staff. Along with other patient groups, the charity raised £1.2 million in just eight months and they now fund 16 new posts.
Emily says, “One of the doctors we’re funding in Newcastle is running seven clinical trials that she would not be running if we hadn’t paid for her post, and she is also going to be the lead on the non-hormonal steroid drug trials.”
Duchenne Children’s Trust is investing in the different arms of research to get treatments to those who need them as quickly as possible.
Emily says, “We’re accelerating the most promising research to help this generation of boys. We believe we can do this within a decade.”
We also believe that they can and that’s why TotallyMoney.com is committed to helping End Duchenne in Ten.