'Historic' first ever drug for Duchenne muscular dystrophy approved

The first ever drug to combat a form of muscular dystrophy has been approved following a
'historic' u-turn by medicines regulators
Duchenne muscular dystrophy is a genetic disease that gradually causes weakness and loss of muscle function Photo:
Alamy
By Rebecca Smith, Medical Editor
1:55PM BST 23 May 2014
The first ever drug to combat Duchenne muscular dystrophy, a life threatening muscle wasting
condition, has been approved by medicines regulators and hailed by experts as 'historic'.
Translarna, also known as ataluren, prompts the body to manufacture a protein that protects against
muscle damage which is absent in children with the disease.
The drug has been licensed under special measures allowed for medicines to treat life threatening
diseases where no other alternative drug is available.
Experts said the approval was 'fantastic' and called for the National Institute for Health and Care
Excellence to hold urgent meetings to ensure it is available in Britain on the NHS as soon as possible.
Translarna can be used in children with the specific mutations aged over five who are able to walk.
There are around 100 boys born with Duchenne muscular dystrophy each year and there are 2,400
living with it currently.
Patients with the condition lack normal dystrophin, a protein found in muscles. Because this protein
helps to protect muscles from injury as muscles contract and relax, in patients with the disease the
muscles become damaged and eventually stop working.
In 10 per cent to 15 per cent of cases, the condition is caused by specific mutations in their genes,
called nonsense mutations.
Nonsense mutations in the dystrophin gene prematurely stop the production of a normal dystrophin
protein, leading to a shortened dystrophin protein that does not function properly.
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 European Medicines Agency had initially turned down Translarna due to a lack of evidence.
However after representations, it reconsidered the drug, including a new analysis of data submitted by
the manufacturer PTC Therapeutics.
It has now been given a conditional licence which allows early access to medicines for life threatening
diseases.
Robert Meadowcroft, chief executive of the Muscular Dystrophy Campaign, said: This decision by
the EMA is fantastic news.
"There are 200 or more children and young people in the UK who live with Duchenne muscular
dystrophy caused by a nonsense mutation, for whom Translarna has been designed 10 to 15 per
cent of the total number affected by the condition.
"Each of them could now have independent access to the drug without needing to be part of a clinical
trial.
Encouragingly, extending the numbers of those taking Translarna beyond those on PTCs final
planned clinical trial will also help to further accelerate development of the drug.
Recent setbacks involving other potential treatments for Duchenne muscular dystrophy have been
disappointing for everyone racing against the clock to develop treatments that could protect muscles
from further damage.
"Duchenne muscular dystrophy causes muscles to increasingly weaken and waste. Most of those
diagnosed, usually before the age of five, will use a powered wheelchair before they are twelve, will
not have the muscle strength to pick up a glass of water by the age of 20 and will not live to see their
30th birthday. This step forward for Translarna offers much needed hope.
This is a significant milestone in the search for treatments for Duchenne muscular dystrophy. There
are 2,400 children and young people living with this complex condition, and the Muscular Dystrophy
Campaign is committed to funding a diverse, peer-reviewed and ambitious research programme until
effective treatments have been found for every single one of them.
We today call for urgent meetings with the National Institute of Health of Clinical Excellence
(NICE) and NHS England, to discuss next steps to clear the path for their approval of Translarna and
to make sure the drug reaches those for whom it could be effective without delay.
Dr Craig McDonald, Professor of Physical Medicine and Rehabilitation at the University of
California, Davis, said: This is a historic day for the Duchenne muscular dystrophy community.
"Translarna is the first treatment for the underlying cause of nonsense mutation DMD to receive a
positive opinion from the Committee for Medicinal Products for Human Use."
Filippo Buccella, member of the United Parent Project Muscular Dystrophy, said: After thirty years
since the discovery of the dystrophin gene, we are finally beginning to see a change in the landscape.
"For the first time in the history of Duchenne, we see the path to approval for a drug to treat the
underlying cause of DMD.
"The perseverance of this community made it possible to realise a dream that can give hope to the
boys affected.
"Our work as a community of patients is not yet finished and we will stand ready to participate with
PTC in the ensuing stages of this process and, we hope, with many other companies with new
therapies for Duchenne.
How we moderate
Copyright of Telegraph Media Group Limited 2014