RecruitingNCT07183579

Effective Dosing of Burosumab in XLH

A Retrospective Observational Study of the Effect of Dosing Regimen of Burosumab on Biochemical Control of Serum Phosphate Levels in Patients With X-linked Hypophosphataemia (XLH)


Sponsor

University of Nottingham

Enrollment

120 participants

Start Date

Sep 8, 2025

Study Type

OBSERVATIONAL

Conditions

Summary

X-linked hypophosphataemia (XLH) is a rare, hereditary condition. The genetic defect leads to low blood phosphate levels and vitamin D suppression. Phosphate is required for strong bones and teeth and to store energy in cells. Low phosphate leads to soft bones (rickets). Patients experience bowed legs, short stature, bone pain and dental pain. Prior to Burosumab, conventional treatment of XLH previously consisted of two medications. On this regimen, patients take oral phosphate supplements 4-6 times a day and an active form of vitamin D daily. This treatment can leave patients with residual symptoms. They report significant disabilities and reduced quality of life. Burosumab (Crysvita, Kyowa Kirin) is now the standard paediatric treatment for XLH. It is given once a fortnight by injection under the skin. Early studies used a starting dose of 0.4mg/kg per dose. NICE recommends a starting dose of 0.4mg/kg, a normal maintenance dose of 0.8mg/kg and a maximum of 2mg/kg (up to 90mg). The British National Formulary for Children (BNFC) gives the same advice. However, the European Medicines Agency recommends a starting dose of 0.8mg/kg per dose which is, therefore, the standard starting dose now. Some patients achieve symptom and biochemical control on less than 0.8 mg/kg per dose. They may be exposed to higher doses than necessary. To date, approximately 200 patients have started on Burosumab in England. They are all managed by specialist centres. The rare status of XLH means there are relatively few patients in each centre. Treatment effects and trends can only be described by collating data from multiple centres. The investigators will undertake a review across multiple English centres of the doses of Burosumab. The review will only collect data already in the patients' health records. It will look at factors affecting the starting dose. The investigators will assess the association between dose, blood markers and growth.


Eligibility

Min Age: 2 YearsMax Age: 18 Years

Inclusion Criteria2

  • A diagnosis of x-linked hypophosphataemia (XLH) including genetic confirmation of a PHEX mutation.
  • Has received at least 12 months of continuous Burosumab treatment under paediatric criteria (given Burosumab is not started till a child is 12 months old in England, the minimum age will, therefore, be 2 years old) prior to their 18th birthday.

Exclusion Criteria1

  • Burosumab received under adult criteria (patients who have received both Burosumab under paediatric arrangements and, subsequently, adult arrangements, can have data obtained during paediatric dosing included).

Interested in this trial?

Get notified about updates and connect with the research team.


Locations(1)

Nottingham University Hospitals NHS Trust

Nottingham, United Kingdom

View Full Details on ClinicalTrials.gov

For the most up-to-date information, visit the official listing.

Visit

NCT07183579