Metabolic Support UK response to draft guidance ID1151: burosumab for treating X-linked hypophosphataemia

Metabolic Support UK, as the umbrella patient organisation for Inherited Metabolic Disorders, is disappointed that NICE does not recommend re-imbursement of the treatment burosumab for X-linked Hypophosphatemia (XLH) in children and young people following the recent Highly Specialised Technologies evaluation.

Burosumab is the first and only treatment to target the underlying pathophysiology of XLH. An injection given every two weeks from the age of one until the skeleton stops growing, aims to increase reabsorption of phosphate from the kidney and, through vitamin D production, improve intestinal absorption of calcium and phosphate.

Metabolic Support UK has seen the positive impact on XLH patients who have received the treatment under the clinical trials and early access scheme. Parents of children that have benefitted from the treatment report strong improvements in adherence to the treatment pathway, physical functioning, mobility, bone density and straightening, pain levels and social inclusion; overall impacting on the quality of life and mental wellbeing not just for the patient but their parents/carers and wider family.

Clinical experts stated, during the Committee meeting, the clear benefits of the treatment for all children affected by XLH and that early treatment would reduce the need for surgical intervention and avoidable suffering.

While we are pleased that the Committee recognises the meaningful clinical benefits of burosumab and the lasting effect over the patient’s lifetime, due to the prevention of irreversible bone damage, we do not feel that the long-term benefits when patients reach adulthood have been fully considered. Though the marketing authorisation for burosumab does not include adults, early access to, and adherence of, this treatment during the pivotal bone growth years could bring substantial benefits post-adolescence.

We believe the Committee’s conclusion stated in 4.13 ‘burosumab would not improve other aspects of XLH in the long-term’ does not address the fact that fixing or correcting skeletal deformities during childhood will see the improvements continue into adulthood. Adult patients successfully treated as children will see an improvement in the lifelong disability, a reduced need for corrective surgery and experience less debilitating pain and mobility issues. The social and psychological benefits seen by patients on the clinical trial as a result of the physical improvements will also continue into adulthood, reducing the burden of care in the long-term.

Metabolic Support UK has engaged and endeavoured to bring the patient voice and experience into the process where possible. The data and evidence in this area is limited, in common with all products considered under the current Highly Specialised Technology appraisal process. We hope that NICE, NHS England and all stakeholders can work together to agree a way to ensure patients will receive access to this important treatment that would have a substantial impact on quality of life and ability to participate in everyday activities over a lifetime.