Crysvita (burosumab-twza) / Ultragenyx, Kyowa Kirin - LARVOL DELTA

Health-Related Quality of Life in Children with X-Linked Hypophosphatemia Treated with Burosumab: Real-World Data from a German-Swiss Study. (PubMed, Calcif Tissue Int) - "A burosumab dosage above 0.6 mg/kg was associated with a good Physical Well-Being (above the mean of the general population) with a sensitivity and specificity of 75% and 70% in self-report, and 67% and 70% in proxy questionnaires, respectively. In this real-world study, HRQoL in burosumab-treated children with XLH was comparable to that of the general population and associated with burosumab dosage."

HEOR • Journal • Observational data • Real-world evidence • Pediatrics • Renal Disease

Orthopaedic diagnostic pitfalls in fibroblast growth factor 23-mediated hypophosphatemic rickets/osteomalacia in fibrous dysplasia/McCune-Albright syndrome: Two burosumab-treated cases. (PubMed, Bone Rep) - "Burosumab improved serum phosphate levels after dose adjustment and was associated with mobility gains in Case 1 and increased growth velocity with physeal normalization in Case 2. Age-appropriate phosphate assessment and FGF23 testing are warranted when orthopaedic findings suggest impaired mineralization."

Journal • Genetic Disorders • Musculoskeletal Diseases • Orthopedics • Renal Disease • FGF23

Hypophosphataemia in adults: approach to diagnosis and management. (PubMed, Intern Med J) - "While most cases are managed with removal of causative factors and phosphate supplementation, burosumab has revolutionised the treatment of patients with chronic FGF23-mediated hypophosphataemia. This review provides a practical framework for the evaluation and management of hypophosphataemia in adults, with focussed discussion of iron infusion-associated hypophosphataemia, X-linked hypophosphataemia and tumour-induced osteomalacia."

Journal • Hematological Disorders • Oncology • Renal Disease • FGF23

Impact of burosumab on kinetics of intact FGF23 values after the removal of a causative tumor in a patient with tumor-induced osteomalacia. (PubMed, JBMR Plus) - "This half-life is similar to that of burosumab itself, likely reflecting the presence of biologically inactive FGF23-burosumab complexes. In conclusion, the half-life of measured intact FGF23 following burosumab discontinuation is considerably longer than that reported in TIO patients not receiving burosumab, indicating that measured intact FGF23 levels should be interpreted with caution after discontinuation of burosumab."

Journal • Oncology • Renal Disease • FGF23

Up to 5-Year Follow-up of Biochemical Response to Burosumab in 57 Children With XLH: Revisiting Titration Strategies (ESPE 2026) - No abstract available

Clinical • Late-breaking abstract

First Pediatric Report of Burosumab in Autosomal Recessive Hypophosphatemic Rickets Type 1 due to DMP1 Mutation (ESPE 2026) - No abstract available

Clinical • Pediatrics

Clinical, radiological and laboratory follow-up of 7 children with X-Linked Hypophosphatemic Rickets receiving treatment with Burosumab: Evidence from a tertiary care Reference Center. (ESPE 2026) - No abstract available

Clinical

Fibroblast Growth Factor 23 (FGF23): From Synthesis to Cleavage. (PubMed, Mol Cell Endocrinol) - "Chronic kidney disease, autosomal dominant hypophosphatemic rickets, hyperphosphatemic familial tumoral calcinosis, X-linked hypophosphatemia, Raine syndrome, and ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1) deficiency illustrate the relationships among FGF23 processing, bone-matrix signaling, and pyrophosphate homeostasis. This review integrates these mechanisms and evaluates burosumab, selective FGFR inhibition, C-terminal peptides, small-molecule antagonists, and ENPP1 enzyme replacement according to current evidence."

Journal • Review • Chronic Kidney Disease • Metabolic Disorders • Nephrology • Oncology • Renal Disease • ENPP1 • FAM20C • FGF23

Two variants in SLC34A3 in a patient with X-linked hypophosphatemia: a diagnostic and therapeutic dilemma. (PubMed, Pediatr Nephrol) - "We present a case of a female patient with XLH due to PHEX deletion, who is also a carrier of two pathogenic variants in the SLC34A3 gene in cis- verified through long-read sequencing. Given these distinct pathophysiological mechanisms and the potential influence of even heterozygous SLC34A3 variants on the clinical phenotype, this case underscores the need to screen WES/WGS data in patients with XLH not only for PHEX variants, but also for variants in other phosphate-regulating genes before initiating burosumab therapy, particularly when biochemical parameters are inconsistent with "classical" XLH."

Journal • Renal Disease • FGF23

Hypophosphatemic rickets in children: current knowledge and a proposal for a diagnostic algorithm. (PubMed, Endokrynol Pol) - "The review also outlines conventional and targeted therapies, highlighting the role of burosumab in FGF23-mediated formsand the need for individualized management in rare or FGF23-independent HR. Early diagnosis and a multidisciplinary approach arecrucial to optimize outcomes and improve quality of life."

Journal • Review • Cardiovascular • Endocrine Disorders • Genetic Disorders • Musculoskeletal Pain • Oncology • Pain • Pediatrics • Renal Disease • FGF23

Recurrent Tumor-Induced Osteomalacia After Surgical Resection: A Case Report Demonstrating Successful Treatment With Burosumab. (PubMed, Cureus) - "A systematic evaluation of hypophosphatemia is essential for timely diagnosis and appropriate management. This case supports burosumab as an effective therapeutic option for achieving biochemical and clinical improvement in patients with unresectable TIO."

Journal • Musculoskeletal Diseases • Musculoskeletal Pain • Oncology • Osteoporosis • Pain • Rare Diseases • Renal Disease • Rheumatology • FGF23 • SSTR

Continuation of burosumab during pregnancy in a patient with X-linked hypophosphatemia. (PubMed, JCEM Case Rep) - "This case presents real-world evidence of continued burosumab exposure during pregnancy in a woman with XLH. Although no apparent short-term maternal or fetal adverse events were observed, the safety of burosumab use during pregnancy is uncertain, and more clinical data, particularly with long-term follow-up, are needed."

Journal • Developmental Disorders • Obstetrics • Renal Disease • FGF23

Three Generations of X-Linked Hypophosphataemia: The Inter-generational Impact of Burosumab Across the Lifespan. (PubMed, Bone) - "This familial case study highlights the broad phenotypic spectrum of XLH, and differential efficacy profile of burosumab across various stages, such as pre- and post-growth plate closure or in the presence of established musculoskeletal morbidity. We also demonstrate the unique inter-generational impact of burosumab in XLH, as a targeted novel treatment available for patients with a dominantly inherited disorder across the lifespan."

Journal • Genetic Disorders • Musculoskeletal Diseases • Orthopedics • Renal Disease • FGF23

Real-world outcomes in patients with tumor-induced osteomalacia treated vs not treated with burosumab. (PubMed, J Endocr Soc) - P | "Patients treated with burosumab reported significantly lower median Brief Pain Inventory scores, nonsignificantly lower Brief Fatigue Inventory scores, and nonsignificantly higher Patient-Reported Outcomes Measurement Information System Physical Function and Short-Form-36 scores, indicating lower symptom severity and better health-related quality of life. This study suggests favorable biochemical and patient-reported outcomes in patients with TIO treated with burosumab."

Journal • Real-world evidence • Fatigue • Musculoskeletal Diseases • Musculoskeletal Pain • Oncology • Orthopedics • Pain • Renal Disease • FGF23

Effects of burosumab on macrophage polarization and TRPV1 expression in children with XLH. (PubMed, Endocr Connect) - "In untreated XLH patients, macrophages exhibit a pro-inflammatory M1 phenotype with upregulated TRPV1 expression. Burosumab reverses this profile, driving M2 polarization and reducing TRPV1 levels, thereby suggesting that it exerts therapeutic effects beyond phosphate homeostasis through immunomodulation."

Journal • Genetic Disorders • Immunology • Inflammation • Musculoskeletal Diseases • Musculoskeletal Pain • Pain • Renal Disease • CCR7 • CD86 • FGF23 • MRC1 • STAT6 • TRPV1

Burosumab vs Conventional Therapy in Prepubertal XLH: Catch-Up Growth and Prognostic Value of an Early Response (ASBMR 2026) - No abstract available

Burosumab In The Treatment Of Fgf-23 Induced Hypophosphatemia In Fibrous Dysplasia Of Bone – A Real-World Study In 11 Patients (ASBMR 2026) - No abstract available

Clinical • Real-world • Real-world evidence • Renal Disease • FGF23

Real-World Experience of Burosumab in Adults with X-linked Hypophosphatemia (XLH) Aged Over 65 Years in the UK (ASBMR 2026) - No abstract available

Clinical • Real-world • Real-world evidence • Renal Disease

Burosumab vs Conventional Therapy in Prepubertal XLH: Catch-Up Growth and Prognostic Value of an Early Response (ASBMR 2026) - No abstract available

Burosumab for CSHS (clinicaltrials.gov) - P1 | N=1 | Completed | Sponsor: Laura Tosi | Active, not recruiting ➔ Completed | Trial completion date: Mar 2023 ➔ Mar 2026

Trial completion • Trial completion date • Rare Diseases • Renal Disease

Successful Transition in Rare Metabolic Bone Diseases: One-Year Outcomes of a Multidisciplinary Pediatric-Adult Program. (PubMed, Medicina (Kaunas)) - "Treatment adjustments were required in 40% of patients, including optimization of phosphate/calcitriol replacement and reassessment of bisphosphonate or burosumab therapy... In this small exploratory cohort, implementation of a structured multidisciplinary transition pathway was feasible and was accompanied by high transfer and one-year retention rates. Observed differences across diagnostic subgroups should be interpreted cautiously, and larger multicenter comparative studies are needed to evaluate the effectiveness of structured transition frameworks."

Journal • Endocrine Disorders • Genetic Disorders • Hypoparathyroidism • Immunology • Orthopedics • Pediatrics • Primary Immunodeficiency • Rare Diseases

Case Report: Deep intronic PHEX variant causing aberrant splicing identified by whole genome and targeted RNA sequencing in X-linked hypophosphatemia. (PubMed, Front Endocrinol (Lausanne)) - "Following molecular diagnosis, the patient was successfully initiated on Burosumab therapy, resulting in clinical improvement...The findings expand the known PHEX mutation spectrum and emphasize the importance of re-evaluating patients with a strong clinical diagnosis but previously negative genetic results. In the future, such technologies may play a crucial role in improving diagnostics for rare monogenic diseases."

Journal • Renal Disease • FGF23

Effectiveness, safety, and pharmacokinetics of burosumab in Chinese children with X-linked hypophosphatemia: an open-label, single-arm phase 4 study. (PubMed, JBMR Plus) - "All patients experienced treatment-emergent adverse events; most were mild to moderate. In conclusion, burosumab treatment in Chinese children with XLH corrected serum phosphorus levels and improved clinical parameters with tolerable safety profiles."

Journal • P4 data • PK/PD data • Orthopedics • Pediatrics • Renal Disease

Hyperparathyroidism After 3 Years of Burosumab in Children Affected With X-Linked Hypophosphatemia. (PubMed, Eur J Endocrinol) - "We suggest that higher serum phosphate levels in the context of prolonged treatment with burosumab may stimulate PTH secretion in some patients with XLH, leading to HPTH. Careful follow-up and preventive measures to limit the development of secondary HPTH should be applied in treated children."

Journal • Endocrine Disorders • Renal Disease

European Commission Approves Crysvita (burosumab) for Infants with X-linked Hypophosphataemia in the European Union (Businesswire) - "The approval is supported by data from BUR-CL207 (NCT04188964), a Phase 1/2, open-label, multicentre study evaluating the safety, tolerability, pharmacokinetics and efficacy of burosumab in paediatric patients from birth to one year of age with XLH."

EMA approval • Genetic Disorders