Translarna – a drug treating a particular form of Duchenne muscular dystrophy – has been given the green light by the European Medicines Agency (EMA) and could be available in Europe in six months.
Translarna is only relevant to patients with a “nonsense mutation”, who make up 10-15% of those affected by Duchenne.
The EMA decided not to pass the drug in January, but they have since re-examined the evidence.
Translarana was developed by PTC Therapeutics
A campaign group said the drug must reach the right children without delay.
There are currently no approved therapies available for this life-threatening condition.
The patients who will benefit the most are those aged five years and over who are still able to walk, the EMA said.
Duchenne muscular dystrophy is a genetic disease that gradually causes weakness and loss of muscle function.
Patients with the condition lack normal dystrophin, a protein found in muscles, which helps to protect muscles from injury.
In patients with the disease, the muscles become damaged and eventually stop working.
The drug, ataluren, will be known by the brand name of Translarna in the EU. It was developed by PTC Therapeutics.
The next step will see the European Commission rubberstamp the EMA’s scientific “green light” within the next three months and authorize the drug to be marketed in the EU.
At that point, individual member states must decide how it will be funded.
Clinical trials are still ongoing on the drug and the results will have to be sent to the EMA.
Scientists say Viagra and Cialis could be used to fight Duchenne muscular dystrophy in boys.
In tests the drugs helped improve blood flow to the muscles of boys with DMD.
Scientists at the Cedars-Sinai Institute in Los Angeles hope the drugs could slow the onset of the disease, which causes the breakdown and gradual loss of muscle fibres.
But experts warn the study did not show an improvement in the boys’ ability to walk, and was not a “big breakthrough”.
DMD affects one in every 3,500 newborn boys, and many will die before they reach 30.
DMD affects one in every 3,500 newborn boys, and many will die before they reach 30
It can become fatal when it affects the muscles needed to breathe and pump blood around the body.
Many patients with the condition have to use a wheelchair by the age of 10, and there is currently no effective treatment.
Corticosteroids, currently used for short-term treatment, have a range of side effects, from acne, muscle weakness and stomach ulcers to diabetes, osteoporosis and high blood pressure.
But they do not work in 25% of cases.
Scientists looked at the new treatment in a study of 10 boys with DMD aged between eight and 13.
Boys with DMD had “blood flow abnormalities” despite taking corticosteroids, they said.
The boys, who had previously been taking corticosteroids, were given a single dose of either sildenafil, commonly known as Viagra, or tadalafil, known as Cialis, which are also used to treat erectile dysfunction.
The dose was given and the blood flow in the boys’ muscles was measured after one hour, for Viagra and after three hours for Cialis.
It was measured when they were resting and then doing a handgrip exercise, after taking corticosteroids, Viagra and Cialis.
Their blood flow was compared with 10 boys of the same age who didn’t have DMD.
The study said blood flow to the muscles was improved in boys treated with both Viagra and Cialis, compared with when they were taking corticosteroids.
The blood flow of boys with DMD increased by 32% after exercise without either treatment.
But after treatment with Cialis, their blood flow increased by 63%. This compares with 78% in “healthy” boys.
The study built on earlier work in zebra fish and mice.
Tyler Armstrong, a 9-year-old boy from South California, has become the youngest person to climb Mount Aconcagua.
The boy wanted to raise awareness for a type of muscular dystrophy that only affects young boys.
Tyler Armstrong reached the summit of Argentina’s 22,837-foot-tall Mount Aconcagua on Christmas Eve, two days ahead of schedule, according to a post on the Top With Tyler Facebook page, which is tracking his progress.
The boy and his father set out December 7 on the arduous journey, which the young climber dedicated to those who can’t walk. He’s raising awareness and money for Duchenne muscular dystrophy, which affects 1 in 3,600 boys.
“It’s when muscles get smaller every time you use them and by 14 they can’t walk,” Tyler Armstrong said of those afflicted with the disease.
Tyler Armstrong has become the youngest person to climb Mount Aconcagua at 9
Temperatures along the route to the top of Mount Aconcagua typically drop to 20 degrees below zero this time of year. And the pinnacle is just below the elevation where oxygen is mandatory.
Tyler Armstrong is the youngest person to scale the towering peak.The previous record had been held by a 10-year-old climbe).
Mount Aconcagua – the highest in both the Western and Southern Hemispheres – is now added to an already impressive list of summits the fourth grader from Yorba Linda has reached.
At the age of 7, Tyler Armstrong climbed 14,505 feet up Mount Whitney, the highest summit in the contiguous US.
Last year, Tyler Armstrong scaled Mount Kilamanjaro, the highest free-standing mountain in the world at 19,341 feet. He had to apply for a special permit for that trek because, at 9, he was a year younger than the age limit.
Tyler Armstrong’s Argentina itinerary planned for him to summit between December 26 and 29. It should take him about three days to climb down from the mountain.
Tyler Armstrong is set to be back in the US on January 5, 2014.
[youtube 2kT60-AY99c 650]