Sapropterin for phenylketonuria (all ages)

Now a generic product is available, NHS England is commissioning access to sapropterin for all adults with phenylketonuria, alongside the population specified in the NICE guidance (TA729). The drug is also commissioned for individuals with tetrahydrobiopterin (BH4) disorders.

SPS commentary:

In September 2021, NICE published guidance recommending sapropterin as an option for treating hyperphenylalaninaemia that responds to sapropterin in people with phenylketonuria (PKU), only if they are:

  • under 18 and a dose of 10 mg/kg is used, only using a higher dose if target blood phenylalanine levels cannot be achieved at 10 mg/kg
  • aged 18 to 21 inclusive, continuing the dose they were having before turning 18 or at a maximum dose of 10 mg/kg
  • pregnant (from a positive pregnancy test until birth).

Sapropterin is recommended only if the company provides it according to the commercial arrangement.

At the time of publication, only the branded product Kuvan was available.

A generic version of sapropterin, which is non-inferior to the branded product, is now available, and NHS England is therefore now able to commission wider access to sapropterin. Clinical teams should prescribe the product with the lowest acquisition cost.

The health service will roll-out a national genetic testing and responsiveness programme for around 2,300 people with phenylketonuria (PKU) across England in order to identify those patients who stand to benefit from the treatment. Pregnant women who have PKU will also be offered the drug immediately.

NHS England

Resource links:

NICE guidance

Press release