At last, a drug to halt the cruel march of muscular dystrophy
THE first treatment to protect boys from the worst ravages of a muscle-wasting disease that condemns them to life in a wheelchair – and an early death – is to be offered to an NHS patient next month.
Studies suggest that the revolutionary drug can slow the progression of Duchenne’s muscular dystrophy (DMD) by correcting the genetic faults that cause the devastating symptoms.
A youngster from East Lothian will become the first British sufferer to be prescribed Translarna, also known as Ataluren, on the NHS after his parents made an Independent Patient Funding Request to their local provider.
The annual cost of the therapy is £200,000 per patient.
Initially the European Medicines Agency turned down Translarna due to a lack of evidence, but in August 2014 it granted approval following the submission of new trial data from the manufacturer, PTC Therapeutics.
However, while Translarna is now available on prescription in several European countries following that ruling, it has still not had full approval from the UK licensing body, the National Institute for Health and Care Excellence. PTC Therapeutics hope that the body will grant full approval in the New Year.
DMD made headlines last weekend when The Mail on Sunday revealed how the plight of sevenyear-old sufferer Jack Johnson was inspiring rugby stars to perform the ‘hooked figure’ – linking their fingers to form to letter Js – in honour of the charity he set up, Joining Jack.
Now, four-year-old sufferer Cormac Fegan, from Longniddry near Edinburgh, has been approved to receive a six-month course of the new medication, which comes in the form of a powder that is mixed into a drink and taken three times a day. Cormac’s father Gary, a 43-year-old IT consultant, says: ‘We’re definitely not expecting miracles or anything approaching a cure but we know of one boy who had a high dose which worked amazingly.
‘Before the boy took Translarna, the muscle function in his hands had deteriorated so badly that he could barely scribble. Afterwards his handwriting was massively improved, and he could bound down stairs in a way his parents could never have dreamed of before.’
Professor Kate Bushby, of the Institute of Human Genetics at Newcastle Univer- sity, has been leading the UK trials of Translarna.
She says: ‘Several times a year I have to tell a family that their little boy, who is absolutely fine and just runs a bit more slowly than the others, will lose their ability to walk by their teenage years and may not live beyond the age of 30. ‘Until now, we have not had a treatment that goes to the root cause of DMD. The hope is that we will be able to delay its progression. It is a very exciting time.’ About 100 boys each year are born with DMD, with 2,400 living with it currently. Sufferers develop normally, then regress and are usually confined to a powered wheelchair by the age of 11.
They don’t have the muscle strength to pick up a glass of water by the time they are 20, and have an average life expectancy of just 30, as the disease affects heart and respiratory muscles.
DMD is inherited, linked to a fault in the X-chromosome. Females, who have two X-chromosomes, do not have the disease but are carriers. If a female carrier has a child, it has a 50 per cent chance of inheriting the gene fault. And if that child is male, with an X-chromosome that has the DMD gene mutation, they will have the disease.
Patients with the condition do not produce dystrophin, a protein found in muscles. This protein helps to protect the muscles from injury as they contract and relax.
IN PATIENTS with the disease, the muscles become damaged through normal use and eventually stop working. In ten to 15 per cent of cases, DMD is caused by a type of mutation known as a ‘nonsense mutation’, and this is the type Cormac has.
Translarna is thought to work in these patients by enabling the protein-making apparatus in cells to skip over the defect, allowing the cells to produce a functional dystrophin protein.
The drug can be used in children with such a specific mutation aged five or over who are able to walk. Cormac is due to start treatment on his fifth birthday – November 21.
Mr Fegan says that he and Cormac’s mother Ella, 38, who works for an investment management firm, are hoping Translarna will preserve their son’s muscle function so he can carry on walking without the need for a wheelchair into his teens.
Mr Fegan says: ‘While it’s fantastic news that Cormac will be given access to Translarna, we’ve only got approval for six months, so we know this could be taken away from us at any time.’