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Positive Response to One-Year Treatment With Burosumab in Pediatric Patients With X-Linked Hypophosphatemia
Silvia Martín Ramos1, Marta Gil-Calvo2, Virginia Roldán3
1Hospital Universitario Central de Asturias, Oviedo, Spain.
Insights
Burosumab treatment for X-linked hypophosphatemia (XLH) in children improved phosphate levels and growth. This real-world study found burosumab safe and effective for pediatric XLH patients over one year.
Area of Science:
- Pediatric Endocrinology
- Rare Genetic Diseases
- Pharmacology
Background:
- X-linked hypophosphatemia (XLH) imposes a significant health burden on pediatric patients, even with conventional phosphate and vitamin D therapies.
- Clinical trials indicate burosumab efficacy, but real-world data on its long-term effects in daily practice are limited.
Purpose of the Study:
- To evaluate the one-year clinical effectiveness and safety of burosumab in pediatric patients with genetically confirmed XLH in a real-world setting.
- To assess burosumab's impact on biochemical parameters, growth, and body composition in children with XLH.
Main Methods:
- A cohort of five pediatric patients (three female, aged 6-16 years) with genetically confirmed XLH received subcutaneous burosumab (0.8 mg/kg every 2 weeks) for one year.
- Patients were previously treated with phosphate and vitamin D analogs.
- Biochemical markers (serum phosphate, alkaline phosphatase, PTH), height, and body mass index (BMI) were monitored throughout the treatment period.
Main Results:
- Burosumab administration normalized serum phosphate levels and increased phosphate tubular reabsorption in all patients.
- Elevated serum alkaline phosphatase levels significantly decreased.
- Three prepubertal children experienced improved height (SD increase of +0.84, +0.89, +0.16) and reduced BMI (SD decrease of -1.75, -1.47, -0.17).
- Burosumab was well-tolerated, with only mild, transient local pain and headache reported.
- No patients developed hyperphosphatemia, worsening nephrocalcinosis, metabolic control issues, or hyperparathyroidism.
Conclusions:
- One-year burosumab treatment demonstrates significant clinical benefits for pediatric XLH patients in a real-world setting, including biochemical normalization and growth improvement.
- Burosumab exhibits a favorable safety profile, with no major adverse events observed.
- These findings support the use of burosumab as an effective therapeutic option for managing XLH in children outside of strict clinical trial parameters.
Abstract:
X-linked hypophosphatemia (XLH) causes significant burden in pediatric patients in spite of maintained treatment with phosphate supplements and vitamin D derivatives. Administration of burosumab has shown promising results in clinical trial but studies assessing its effect in the everyday practice are missing. With this aim, we analyzed the response to one-year treatment with burosumab, injected subcutaneously at 0.8 mg/kg every 2 weeks, in five children (three females) aged from 6 to 16 years, with genetically confirmed XLH. Patients were being treated with phosphate and vitamin D analogs until the beginning of burosumab treatment. In all children, burosumab administration led to normalization of serum phosphate in association with marked increase of tubular reabsorption of phosphate and reduction of elevated serum alkaline phosphatase levels. Baseline height of patients, from -3.56 to -0.46 SD, increased in the three prepubertal children (+0.84, +0.89, and +0.16 SD) during burosumab treatment. Growth improvement was associated with reduction in body mass index (-1.75, -1.47, and -0.17 SD, respectively), suggesting a salutary effect of burosumab on physical activity and body composition. Burosumab was well-tolerated, mild local pain at the injection site and transient and mild headache following the initial doses of burosumab being the only reported undesirable side effects. No patient exhibited hyperphosphatemia, progression of nephrocalcinosis, worsening of metabolic control or developed hyperparathyroidism. Mild elevation of serum PTH present at the beginning of treatment in one patient 4 was not modified by burosumab administration. These results indicate that in the clinical setting, beyond the strict conditions and follow-up of clinical trials, burosumab treatment for 1 year exerts positive effects in pediatric patients with XLH without major adverse events.
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