RARE Daily

NICE Enables Access to First Treatment Targeting Underlying Pathophysiology of XLH

June 21, 2024

Rare Daily Staff

Adults living with the rare disease X-linked hypophosphatemia, or XLH, in England, Wales and Northern Ireland will now have access to the first available treatment to target its underlying cause following NICE’s decision to recommend Crysvita to treat adults who have a confirmed diagnosis of XLH, after a new access deal was struck.

This decision ensures equal access to Crysvita (burosumab) across the United Kingdon, as adults living with XLH in Scotland have been able to access burosumab on the NHS since March 2023, following approval by the Scottish Medicines Consortium through their ultra-orphan pathway. Burosumab is also available for eligible children and adolescents in all four UK nations.

Initially, NICE published an interim negative decision in its Appraisal Consultation Document. Following constructive engagement between Kyowa Kirin, NICE and NHS England, this recommendation was revised and an agreement for long term commissioning reached, thus resulting in a positive decision in its Final Draft Guidance.

“This is fantastic news for adults living with XLH in England and Wales, for whom treatment options are currently severely limited and who, as a result of this recommendation, will have access to an effective treatment,” said Oliver Gardiner, trustee and co-founder of XLH UK.

XLH is a very rare genetic condition caused by a genetic mutation which leads to overexpression of the protein FGF23, a protein involved in the regulation of phosphate concentration in the blood. In XLH, FGF23 is produced in excess leading to depletion of phosphate in the blood, known as hypophosphatemia. This rare metabolic bone condition is a life-long and progressive disease that typically presents in early childhood, causing a multitude of symptoms including short stature, limb deformities, bone and joint pain, oral abscesses, and hearing loss. To manage this wide variety of symptoms, the disease is managed through multi-disciplinary teams.

Burosumab is a recombinant human monoclonal antibody that binds to the protein FGF23. This has the impact of inhibiting the action of FGF23, allowing phosphate regulation in the body to be restored.

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