News & Events

NSPKU meeting with NHS England

Last Reviewed 10/09/2015

In NHS England’s most recent round of investment decisions for specialised services (published Thursday 2 July 2015) our member, the NSPKU, was disappointed to find that the drug sapropterin would not be routinely commissioned for children with phenylketonuria.

Phenylketonuria (PKU) is an inherited disorder where those affected are unable to metabolise the amino acid phenylalanine, and if untreated causes serious intellectual impairment. The existing treatment is a very restrictive low-protein diet which is challenging to maintain and provides a substantial burden to families. Sapropterin has been shown to lower blood phenylalanine concentrations in some PKU patients, which may lead to an increased tolerance for dietary protein, and has already been approved for funding in pregnant women.

Yesterday, Wednesday 9 September, our Policy Officer, Louise, attended a meeting, organised by the NSPKU, with NHS England to discuss the decision. The charity and a group of parents of those with PKU were given time to air their concerns about the decision, and ask the Deputy Clinical Director of Specialised Services at NHS England for more information on why they had not recommended that sapropterin be commissioned for this patient group.

The representatives of specialised commissioning at NHS England explained that the decision was entirely based on what the clinical decision making panel had considered to be a lack of long term efficacy data, and that the cost of the medicine had played no role in the decision. Those present were told that in the opinion of the clinical panel the evidence that had been submitted did not sufficiently show improvement in nutritional status or cognitive levels, and that the evidence of improvement in quality of life endpoints was also considered not to have been particularly strong.

For the vast majority of rare conditions, generating clinical evidence of a standard that can support commissioning decisions is challenging. The small number of affected individuals, the often heterogeneous nature of the condition and a lack of interest in clinical research for treatments in unlicensed indications, despite there being a good scientific basis for their efficacy, are often limiting factors for generating data on the clinical (and cost effectiveness) of a treatment for a rare disease.

What will happen now?

Representatives of the NSPKU made reference to a US study which appears not to have formed part of the clinical panel's decision, and the NHS England representatives agreed to look at this to see if it warranted them reopening their decision. They also agreed that when the interim results of the Kognito study are published early next year, this may lead to a re-evaluation. There will also be conversations with the Chair of the metabolic disease Clinical Reference Group (CRG) to see whether sapropterin is suitable to be considered for commissioning through evaluation.

The process for the NSPKU is ongoing, but we hope that by uniting patient groups for rare and genetic conditions, we can help to ensure that NHS England’s specialised services commissioning policy is fair to the particular needs of our community. 

Join our alliance of 200+ patient charities

Join us