The NHS is set to make a drug for the rare, debilitating disorder phenylketonuria (PKU) available to patients of all ages for the first time.

The health service will roll-out a national genetic testing and responsiveness programme for around 2,300 people with PKU across England in order to identify those patients who stand to benefit from the treatment. Around 50 people have already shown a positive response to the drug through testing and will be eligible to receive it on the NHS from next week.

A deal has been struck by the NHS to secure a non-branded ‘generic’ version of the drug, sapropterin dihydrochloride, for patients with the inherited condition, which means patients cannot eat protein. The genetic disorder prevents the breakdown of the amino acid phenylalanine and can lead to serious health issues, including brain damage, with patients forced to live on a highly restricted low-protein diet.

This is the latest in a string of deals agreed by NHS England to make life-changing, innovative treatments more readily available for patients, including risdiplam and Zolgensma for Spinal Muscular Atrophy, a first new treatment for sickle cell disease in two decades, and ‘5 minute’ breast cancer treatment, Phesgo, which has been rolled-out by the NHS in England faster than anywhere else in the World.

Stephen Powis, NHS Medical Director Professor, 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.”