The purpose of this study is to better understand how X-linked hypophosphatemia (XLH) affects the body and daily life. Phosphate levels are critical in managing XLH, we aim to study how these levels change in patients taking burosumab and how they relate to bone health, overall disease burden and XLH-related conditions.
Informed consent obtained before any trial-related activities, i.e., any procedure related to recording of data according to the protocol.
Male or female and aged 18-64 years (both inclusive) at the time of signing informed consent.
Diagnosis of congenital XLH, confirmed genetically or clinically as determined by the investigator, supported by documentation.
Participants have been treated with burosumab for at least 90 days prior to the screening/baseline visit and treatment is still ongoing.
Previous rescreening for this trial.
Current participation in any interventional clinical trial. Participation in another non-interventional trial, such as a patient registry trial, is permitted.
Any condition not associated with XLH, which in the investigator's opinion might jeopardise participant's safety or compliance with the protocol.
Adults with XLH, confirmed genetically or clinically as determined by the investigator, who have been treated with burosumab for at least 90 days prior to the screening/baseline visit and whose treatment is still ongoing. Participants will be followed for a maximum of three years, continuing until end of trial visit, withdrawal of consent or loss to follow-up, whichever occurs first.
Cohort
Prospective
No treatment given
Other interventionNo treatment given
Average Trough Serum Phosphate Concentration
Average trough serum phosphate concentration, defined as the area under the concentration-time curve (AUC) divided by the total duration of the assessment period (AUC divided by time). Measured in milligrams per deciliter (mg/dL).
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