Phenylketonuria (PKU) drug now available to patients in England

Phenylketonuria (PKU) drug now available to patients in England
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The NHS has agreed to a deal to secure a drug for Phenylketonuria (PKU), a rare, deliberating disorder for patients of all ages for the first time.

The NHS has secured a non-branded ‘generic’ version of the drug, sapropterin dihydrochloride, for patients with the inherited condition, Phenylketonuria (PKU), which means patients cannot eat protein.

Phenylketonuria is a rare disorder but can be potentially serious. People with phenylketonuria cannot break down the amino acid phenylalanine, which builds up in their blood and brain, leading to brain damage.

The disorder is diagnosed during the newborn blood spot screening at around five days old. Statistics show that around one in 10,000 babies will be born with Phenylketonuria in the UK.

Phenylketonuria drug available in England

The health service plans to roll out a national genetic testing and responsiveness programme for around 2,300 people with phenylketonuria across England to identify those patients who stand to benefit from the treatment.

Around 50 people have already shown a positive response to a drug through testing and will be eligible to receive it on the NHS from next week.

The phenylketonuria drug will be offered to pregnant women with the condition immediately.

The genetic disorder can force patients to follow a highly restricted low-protein diet. However, clinical trials suggest that around four in ten people may benefit from sapropterin, improving their quality of life significantly and reducing restrictions on the food they can eat.

This drug is the latest deal agreed by NHS England to make life-changing, innovative treatments more readily available for patients.

Life-changing drug

NHS Medical Director Professor Stephen Powis said: “This life-changing drug will make a huge difference to hundreds of people with PKU, allowing them to enjoy foods that were previously off-limits and significantly improve their quality of life.

“It is fantastic the NHS has been able to use its commercial abilities to reach a deal to supply a non-branded version of sapropterin, to offer it all to all patients who are shown to gain a clinical response from the treatment.

“In the run-up to Christmas, after what I know has been a long and frustrating wait for many people, I am delighted the NHS has been able to reach this agreement with an alternative company that was ready to put patients first”.

The testing process can take between eight to ten weeks and the drug will be available to every individual, where there is a clinical benefit.

The NHS is rolling out the testing programme to support the implementation of guidance from the National Institute for Health and Care Excellence (NICE).

The original manufacturer of the branded drug had consistently refused to offer the drug at a fair price, meaning that NICE could only recommend its use in a much smaller patient population.

Previously, the drug was only available to patients up to age 22 due to a previous branded version not being deemed cost-effective by NICE.

The NHS has now agreed on a cost-effective deal with Teva Pharmaceuticals, backed by NICE, to make the first non-branded version of this drug available to all, without the need for any restriction on people aged 22 and older.

Kim Innes, General manager of Teva UK and Ireland, said: “Doing the right thing by giving patients and the NHS access to affordable treatments is at the heart of everything we do at Teva.

“We’re working closely in partnership with NHS England to provide a cost-effective treatment for Phenylketonuria (PKU) patients that will give clinicians more options to help treat this rare but potentially serious inherited disorder.”

People living with phenylketonuria are required to adhere to a restricted diet with significant limitations on the amount of protein they can have. But, those able to take sapropterin can enjoy a more varied range of foods, making the drug life-changing.

The drug works by stimulating a specific enzyme in the blood that helps to improve the breakdown of phenylalanine.

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