NHS Scotland approves drug to treat children with rare hereditary disease X-linked hypophosphataemia

A new cancer treatment and a drug to help children with a rare hereditary disease have been approved for routine use by the NHS in Scotland.

The Scottish Medicines Consortium (SMC) said it has approved burosumab for treating youngsters up to the age of 17 with X-linked hypophosphataemia (XLH) – a form of rickets.

The decision marks a first for the SMC, as it has now approved the drug for routine use after it had previously been made available via its “ultra-orphan pathway” for treatments for extremely rare conditions.

XLH is a genetic condition which causes sufferers to have lower than normal levels of phosphate in their blood, which can result in bones not developing properly.

As it can cause painful skeletal deformities, the SMC first approved burosumab, which is given via injection, for a three-year trial period in January 2020, with work done over the period to gather evidence from patients and their carers about its impact.

Following a reassessment, SMC announced that the treatment has now been accepted for routine use.

It also confirmed pembrolizumab has been accepted as a treatment for adults with advanced cancers, including endometrial cancer, colorectal cancer and gastric, small intestine or biliary cancers that have a rare mutation.

SMC chairman Dr Scott Muir said: “We are very pleased to be able to accept these two new medicines for use by NHS Scotland.

“Burosumab for treating children with XLH is the first of the medicines for extremely rare conditions to be accepted for routine use by SMC after assessment of additional evidence collected during the three years it was made available through the ultra-orphan pathway.

“Through the SMC patient and clinician engagement process, the committee heard the difference this medicine has made to patients and their families.”

He added that pembrolizumab will “provide a targeted treatment option for certain patients with advanced cancers”.

Another drug, belantamab mafodotin, was not recommended as a treatment for patients with advanced myeloma who have had at least four previous treatments, with Dr Muir saying the evidence provided by the company “was not strong enough to satisfy the committee”.

However, he added that the SMC would welcome a resubmission from its manufacturers “when the company has had an opportunity to address the key clinical and cost-effectiveness uncertainties highlighted”.