Clinical guidelines for burosumab in the treatment of XLH in children and adolescents: British paediatric and adolescent bone group recommendations

Padidela, Raja; Cheung, Moira; Saraff, Vrinda; Dharmaraj, Poonam

doi:10.1530/ec-20-0291

Cited by 23 publications

(38 citation statements)

References 9 publications

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“…In 2018, the European Medicines Agency (EMA) granted conditional market authorization to the fully humanized monoclonal anti-FGF23 antibody burosumab [formerly KRN23 ( 150 )] for the treatment of XLH in children ≥ 1 year of age with a growing skeleton and radiographic evidence of bone disease ( 26 ). Late 2020, authorization was expanded for older adolescents and adults with radiographic evidence of bone disease, regardless of growth status.…”

Section: Resultsmentioning

confidence: 99%

“…Recently, international evidence-based guidelines for the diagnosis and management of XLH have been published ( 13 , 25 ). However, efforts are also required to translate the principles outlined in these guidelines to more practical recommendations at the national level, considering local elements such available resources and health economic aspects ( 26 ). Towards this aim, and as part of an interdisciplinary effort to improve the diagnostic and therapeutic care pathway for XLH patients in Belgium, a multi-stakeholder panel gathered to develop national consensus recommendations.…”

Section: Introductionmentioning

confidence: 99%

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Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium

et al. 2021

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X-linked hypophosphatemia (XLH) is the most common genetic form of hypophosphatemic rickets and osteomalacia. In this disease, mutations in the PHEX gene lead to elevated levels of the hormone fibroblast growth factor 23 (FGF23), resulting in renal phosphate wasting and impaired skeletal and dental mineralization. Recently, international guidelines for the diagnosis and treatment of this condition have been published. However, more specific recommendations are needed to provide guidance at the national level, considering resource availability and health economic aspects. A national multidisciplinary group of Belgian experts convened to discuss translation of international best available evidence into locally feasible consensus recommendations. Patients with XLH may present to a wide array of primary, secondary and tertiary care physicians, among whom awareness of the disease should be raised. XLH has a very broad differential-diagnosis for which clinical features, biochemical and genetic testing in centers of expertise are recommended. Optimal care requires a multidisciplinary approach, guided by an expert in metabolic bone diseases and involving (according to the individual patient’s needs) pediatric and adult medical specialties and paramedical caregivers, including but not limited to general practitioners, dentists, radiologists and orthopedic surgeons. In children with severe or refractory symptoms, FGF23 inhibition using burosumab may provide superior outcomes compared to conventional medical therapy with phosphate supplements and active vitamin D analogues. Burosumab has also demonstrated promising results in adults on certain clinical outcomes such as pseudofractures. In summary, this work outlines recommendations for clinicians and policymakers, with a vision for improving the diagnostic and therapeutic landscape for XLH patients in Belgium.

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Section: Resultsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium

et al. 2021

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“…Clinical practice recommendations for the diagnosis and management of XLH advocate regular check-ups for patients by multidisciplinary teams which are organized by an expert in metabolic bone disorders [1,5]. Several excellent studies on the management of XLH have recently been published [8][9][10][11][12][13][14][15]. Since clinical, biochemical, and radiographic features vary between individuals, monitoring and treatment need to be personalized based on a patient's clinical manifestations, medical history, and stage of development [5,16].…”

Section: Team Managementmentioning

confidence: 99%

X-Linked Hypophosphatemia Transition and Team Management

Kubota

2022

Endocrines

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X-linked hypophosphatemia (XLH) is the most common form of inherited disorders that are characterized by renal phosphate wasting, but it is a rare chronic disease. XLH presents in multisystemic organs, not only in childhood, but also in adulthood. Multidisciplinary team management is necessary for the care of patients with XLH. Although XLH has often been perceived as a childhood disease, recent studies have demonstrated that it is a long-term and progressive disease throughout adulthood. In the past 20 years, the importance of the transition from pediatric care to adult care for patient outcomes in adulthood in many pediatric onset diseases has been increasingly recognized. This review describes transitional care and team management for patients with XLH.

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“…In 2018, burosumab, a human monoclonal IgG1 antibody that neutralizes FGF23 was approved for the treatment of XLH ( 6 ). Since then, burosumab has shown promising results with clinical improvement and quality of life for these patients ( 7 ).…”

Section: Introductionmentioning

confidence: 99%

Left Ventricular Hypertrophy in Patients with X-Linked Hypophosphataemia

Castellano-Martínez¹,

Acuñas-Soto²,

Roldan-Cano³

et al. 2022

Jcrpe

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X-linked hypophosphatemia (XLH) is a rare genetic disorder with X-linked dominant inheritance. Mutations in the PHEX gene increase fibroblast growth factor 23 (FGF23) concentrations, causing loss of phosphorus at the proximal tubule. Most pediatric patients debut in the first two years with short stature and bowed legs. Conventional treatment consists of oral supplements with phosphorus and calcitriol. Since 2018, burosumab has been approved as a novel therapeutic option for XLH, with promising results. The purpose of this study was to share our experience with two cases of XLH treated with burosumab. These patients presented with a broad phenotypical differences. One had the most severe radiological phenotype and developed left ventricular hypertrophy (LVH) and left ventricular dysfunction with preserved ejection fraction. Treatment with burosumab was well-tolerated and was followed by radiological stability and a striking improvement in both blood biochemistry and quality of life. The LVH was stable and left ventricular function normalized in the patient with cardiac involvement. In recent years many studies have been carried out to explain the role of FGF23 in cardiovascular damage, but the exact pathophysiological mechanisms are as yet unclear. The most intensively studied populations are patients with XLH or chronic kidney disease, as both are associated with high levels of FGF23. To date, cardiovascular involvement in XLH has been described in patients treated with conventional treatment, so it would be of interest to investigate if early use of burosumab at the time of diagnosis of XLH would prevent the occurrence of cardiovascular manifestations.

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Clinical guidelines for burosumab in the treatment of XLH in children and adolescents: British paediatric and adolescent bone group recommendations

Cited by 23 publications

References 9 publications

Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium

Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium

X-Linked Hypophosphatemia Transition and Team Management

Left Ventricular Hypertrophy in Patients with X-Linked Hypophosphataemia

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