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

Two-year structural skeletal outcomes of burosumab therapy in pediatric X-linked hypophosphatemia: A radiographic cohort study. (PubMed, J Child Orthop) - "Longer-term follow-up is required to confirm sustained skeletal benefits. Level IV."

Journal • Pediatrics • Renal Disease

A bibliometric approach to worldwide scientific production of familial hypophosphataemic rickets in Scopus (2000-2022). (PubMed, Orphanet J Rare Dis) - "Scientific production has shown sustained growth in recent years. The U.S. solidifies itself as the country leading scientific production on familial hypophosphatemic rickets."

Journal • Gene Therapies • Infectious Disease • Renal Disease

Case Report: Increased FGF23 and new insufficiency fractures at burosumab discontinuation in X-linked hypophosphatemia. (PubMed, Front Endocrinol (Lausanne)) - "While burosumab may interfere with FGF23 dosage during treatment, it should be nearly totally eliminated after ≤95 days (half-life ≤19 days), suggesting that FGF23 accumulated under burosumab inducing a very rapid relapse of clinical symptoms. Because in some cases burosumab treatment should be interrupted (end of reimbursement, pregnancy in the absence of safety data), further studies are needed to better explain the FGF23 increased levels after burosumab discontinuation and the clinical, biological, and radiological consequences of burosumab withdrawal."

Clinical • Journal • Musculoskeletal Diseases • Musculoskeletal Pain • Orthopedics • Pain • Renal Disease • FGF23

X-Linked Hypophosphatemia in a Family Cohort: Clinical Variability, Genetic Confirmation and Modern Therapeutic Perspectives. (PubMed, J Clin Med) - " This family cluster underscores the critical need for early diagnosis, genetic confirmation, cascade screening, and lifelong multidisciplinary care. Burosumab represents a therapeutic paradigm shift in XLH, capable of altering disease trajectory when initiated early."

Journal • Immunology • Osteoarthritis • Pain • Renal Disease • Rheumatology • FGF23

Inappropriately Normal: The Fibroblast Growth Factor 23 (FGF23) Illusion, Uncovering a Rare Case of Autosomal Dominant Hypophosphatemic Rickets in Adulthood (KIDNEY WEEK 2025) - "Burosumab, an anti-FGF23 monoclonal antibody, offers targeted therapy...Genetic testing offers valuable insights but must be carefully interpreted in the clinical context. The presence of an FGF23 mutation, even with borderline normal activity, underscores the importance of careful laboratory interpretion which allows tailored treatment hence, prevention of nephrocalcinosis and skeletal deformities even when found in adulthood."

Clinical • Cardiovascular • Hypertension • Metabolic Disorders • Nephrology • Renal Disease • FGF23

Effects of Long-Term Burosumab Treatment on Kidney Health in X-Linked Hypophosphatemia: Results from the XLH Disease Monitoring Program (KIDNEY WEEK 2025) - "In those with NC at BL, NC scores were stable or improved in most patients during burosumab treatment. Continued monitoring of renal health is important in patients with XLH on burosumab or CT."

Chronic Kidney Disease • Metabolic Disorders • Nephrology • Rare Diseases • Renal Disease • FGF23

A Case of Chronic Hypophosphatemia Leading to Identification of a Rare Mutation (KIDNEY WEEK 2025) - "In summary, ARHR2 from ENPP1 deficiency causes significant multi-system morbidities, including hypophosphatemia, musculoskeletal complications like rickets and OPLL, and early-onset vascular calcification. Diagnosis requires high clinical suspicion and prompt genetic testing, and burosumab should be avoided in affected patients."

Clinical • Calciphylaxis • Chronic Kidney Disease • Musculoskeletal Diseases • Orthopedics • Otorhinolaryngology • Rare Diseases • Renal Disease • ENPP1 • FGF23

The Impact of Burosumab on the Clinical and Economic Burden of X-Linked Hypophosphatemia in Adult Patients in France (ISPOR-EU 2025) - "Burosumab could reduce XLH-related complications, improve QoL, and prevent acute events among eligible patients, demonstrating clinical and socio-economic benefits for adult XLH patients in France. It would appear to be a cost-effective option, aligning with the latest published ICER benchmarks for rare diseases in France."

Clinical • HEOR • Orthopedics • Rare Diseases • Renal Disease • FGF23

A novel AAV gene therapy strategy targeting the liver to treat bone and dental defects in X-linked hypophosphatemia (ESGCT 2024) - "A FGF23-neutralizing antibody treatment, burosumab, was approved for clinical use as an alternative to the conventional treatment based on lifelong daily intake of phosphorus and 1,25-(OH)2-vitamin D. Based on the central role of overactive FGF23 pathway in the pathophysiology of FGF23, we recently developed a liver-targeted AAV gene therapy strategy to bypass bone targeting and inhibit FGF23 pathway to rescue bone pathology with a single intravenous injection...Our data support the efficacy of the liver-targeting gene therapy approach to treat skeletal and dental manifestations of XLH at the systemic level. Given that XLH can be considered a prototypical bone disease, the success achieved with our gene therapy approach in XLH opens the way to the extension of similar approaches in other skeletal disorders."

Gene therapy • Dental Disorders • Gene Therapies • Orthopedics • Periodontitis • Renal Disease • FGF23

GENETIC AND THERAPEUTIC INSIGHTS INTO ENAMEL RENAL SYNDROME (ESPN 2025) - "These cases highlight the need for interdisciplinary collaboration between pediatric nephrologists and dental specialists, to ensure that patients receive timely renal evaluation. Moreover, the identification of elevated FGF23 levels in FAM20A-related ERS with severe nephrolithiasis and hypophosphatemia raises the question of the interest of Burosumab as a targeted therapy in these patients."

Metabolic Disorders • Nephrology • Pediatrics • Rare Diseases • Renal Calculi • Renal Disease • FGF23 • WDR72

X-LINKED HYPOPHOSPHATEMIA: IMPACT OF BUROSUMAB TREATMENT (ESPN 2025) - "These cases showcase the importance of a high clinical suspicion and early genetic diagnosis, allowing for targeted therapy. Burosumab treatment was extremely encouraging and suggests a favorable long-term evolution."

Nephrology • Orthopedics • Pediatrics • Renal Disease

PHOSPHATE DISORDERS AND TUBULAR DYSFUNCTION AS CLINICAL MANIFESTATION OF RICKETS-LIKE DISEASE IN DIABETES IN CHILDREN: CLINICAL ASPECTS AND MOLECULAR MECHANISMS (ESPN 2025) - "Phosphate disorders and renal tubular dysfunction are key in diabetes-related rickets-like diseases, particularly X-linked hypophosphatemic rickets (XLH). Impaired phosphate reabsorption due to FGF23 dysregulation and PHEX mutations leads to phosphaturia, hypophosphatemia, and skeletal issues. Research also implicates phosphatonins like MEPE and SFRP4."

Clinical • Diabetes • Metabolic Disorders • Musculoskeletal Pain • Nephrology • Renal Disease • FGF23 • SFRP4

NON-INTERVENTIONAL POST-AUTHORISATION SAFETY STUDY OF BUROSUMAB IN THE TREATMENT OF CHILDREN AND ADOLESCENTS WITH X-LINKED HYPOPHOSPHATAEMIA: SECOND INTERIM ANALYSIS (ESPN 2025) - P | "The safety profile of burosumab was consistent with previous reports, with no new safety concerns. The most common AEs were typical of either a paediatric population or frequent manifestations of XLH. AE frequencies in participants with CKD were similar compared with SAF participants."

Clinical • Chronic Kidney Disease • Metabolic Disorders • Musculoskeletal Pain • Nephrology • Orthopedics • Pediatrics • Renal Disease • FGF23

MARKERS OF BONE METABOLISM IN CHILDREN WITH X-LINKED HYPOPHOSPHATEMIA ON BUROSUMAB TREATMENT: A REAL-WORLD STUDY (ESPN 2025) - "In this real-world study of pediatric patients with XLH treated with burosumab, mild hypophosphatemia and hypocalcemia were found, along with elevated BAP and P1NP levels despite high sclerostin levels, and elevated CTX and TRAP5b levels despite a reduced sRANKL/OPG ratio. These results suggest ongoing mild rickets and increased bone modeling during burosumab treatment and support the concept of an intrinsic osteoblast and osteoclast defect in XLH."

Clinical • Real-world • Real-world evidence • Endocrine Disorders • Pediatrics • Renal Disease • FGF23 • TNFRSF11B • TRAP

Burosumab treatment should not be stopped during late adolescence in X-linked hypophosphatemic rickets patients (ESPN 2025) - "Our findings indicate that stopping B treatment at the end of skeletal growth in adolescents with XLH leads to clinical and biochemical deterioration. The observed improvement upon reinitiating treatment further underscores the need to continue B therapy beyond skeletal maturation. These results highlight the importance of reassessing insurance policies to ensure uninterrupted access to B for young adults with XLH."

Clinical • Fatigue • Orthopedics • Pediatrics • FGF23

X-linked hypophosphatemia and tumor-induced osteomalacia: a narrative review and expert opinion on the diagnostic and therapeutic challenges in the era of burosumab. (PubMed, Orphanet J Rare Dis) - No abstract available

Journal • Review • Oncology • Renal Disease

Effect of burosumab conversion on calciuria and nephrocalcinosis in children with XLH: A real-world cohort study. (PubMed, Bone Rep) - "Burosumab improves phosphate homeostasis in children with XLH, but a minority may develop hypercalciuria and nephrocalcinosis, potentially linked to PTH suppression. Vigilant biochemical and ultrasound monitoring-particularly early after conversion-and consideration of prophylaxis in high-risk cases are advisable."

Journal • Real-world evidence • Metabolic Disorders • Nephrology • FGF23

Health-related quality of life in French pediatric patients with X-linked hypophosphatemia: real-world data from the International XLH Registry. (PubMed, JBMR Plus) - "Children aged 5-7 yr had worse HRQL than a healthy Dutch sample. Overall, better HRQL was associated with higher serum phosphate levels and burosumab treatment."

HEOR • Journal • Real-world evidence • Musculoskeletal Diseases • Pain • Pediatrics • Renal Disease • FGF23

BUROSUMAB PREVENTS FURTHER HEIGHT DEFICIT IN TODDLERS AFFECTED BY XLH. (PubMed, Endocr Connect) - "Our data suggest that, in contrast to the combination of vitamin D analogs and phosphate supplements, burosumab prevents further height deficit in XLH children, even at a period of life associated with a high growth velocity. In addition, burosumab prevents the early and excessive weight gain associated with the development of XLH in children."

Journal • Pediatrics • Rare Diseases • Renal Disease

Approach to a Child with Hypophosphatemia. (PubMed, Biomolecules) - "In the FGF-23-dependent forms of X-linked hypophosphatemia and tumor-induced osteomalacia, burosumab has proven to be an effective and safe drug. a child with hypophosphatemia requires a multidisciplinary approach and determination of the mechanism of phosphate deficiency in the body."

Journal • Review • Endocrine Disorders • Nephrology • Oncology • Renal Disease • FGF23

Improvement in Physical Function Associated With Burosumab in a Patient With X-linked Hypophosphatemia: A Case Report. (PubMed, Cureus) - "Twelve weeks after starting this treatment, his 10-meter walking speed and Time Up-and-Go Test results showed significant improvement. We therefore concluded that burosumab treatment may improve physical function in adult patients with XLH."

Journal • Pain • Renal Disease • FGF23

Effective Dosing of Burosumab in XLH (clinicaltrials.gov) - P=N/A | N=120 | Recruiting | Sponsor: University of Nottingham

New trial • Renal Disease

Real-World Effectiveness of Burosumab in Adults with X-Linked Hypophosphataemia (XLH) in the UK. (PubMed, Calcif Tissue Int) - "Most improvements were clinically meaningful (where benchmarks exist). This study demonstrates the effectiveness of burosumab in real-world practice, supporting findings from clinical trials, and provides new evidence that burosumab treatment substantially improves EQ-5D-5L utility and VAS scores in adults with XLH."

Journal • Real-world evidence • Immunology • Pain • Renal Disease • Rheumatology • FGF23

Refractory Hypophosphatemia Secondary to Tumor-Induced Osteomalacia: Diagnostic Challenges and Successful Management With Burosumab. (PubMed, Cureus) - "This report details a 69-year-old woman with obesity post-gastric bypass, iron deficiency anemia treated with ferric carboxymaltose (FCM) six months prior, osteoporosis post-zoledronic acid, hiatal hernia, and gastroesophageal reflux disease. This case highlights the critical role of intact FGF-23 assays over C-terminal assays for improved diagnostic accuracy in TIO, the indicative value of hypophosphatemia with low or inappropriately normal 1,25 Vit D, the necessity of understanding phosphate homeostasis feedback loops, and the efficacy of burosumab therapy in cases of strong clinical suspicion despite elusive tumors. Ongoing annual imaging aims for potential curative resection."

Journal • Dental Disorders • Fatigue • Gastroenterology • Gastroesophageal Reflux Disease • Genetic Disorders • Hematological Disorders • Obesity • Oncology • Osteoporosis • Pain • Renal Disease • Rheumatology • FGF23

Comprehensive Genetic and Pathologic Insights Into Tumor-Induced Osteomalacia: Advances in Diagnostics, Multidisciplinary Care, and Orthopedic Management Strategies (CAP 2025) - "Complete tumor resection normalized phosphate metabolism in 90% of patients, with adjunctive burosumab therapy improving refractory cases by 70%... Multidisciplinary care integrating advanced imaging, genetic profiling, and surgical innovations optimizes TIO management. Early diagnosis and tailored therapies significantly reduce morbidity. Future directions include developing cost-effective imaging alternatives and refining precision medicine strategies."

Musculoskeletal Diseases • Musculoskeletal Pain • Oncology • Orthopedics • Pain • Rare Diseases • FGF23