Real‐world data of Brazilian adults with X‐linked hypophosphatemia (XLH) treated with burosumab and comparison with other worldwide cohorts

Background Disease‐related variants in PHEX cause XLH by an increase of fibroblast growth factor 23 (FGF23) circulating levels, resulting in hypophosphatemia and 1,25(OH)2 vitamin D deficiency. XLH manifests in early life with rickets and persists in adulthood with osseous and extraosseous manifesta...

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Published in:	Molecular genetics & genomic medicine Vol. 12; no. 2; pp. e2387 - n/a
Main Authors:	Vaisbich, Maria Helena, Cillo, Antônio César Paulillo, Silva, Bárbara Campolina C., DÁlva, Catarina Brasil, Carvalho, Érico Higino, Almeida, Juliana M. C. M., Marques, Larissa L. M., Ribeiro, Marcia, Silva, Mauro Borghi M., Medeiros, Paula Frassinetti V., Mendes, Pedro Henrique
Format:	Journal Article
Language:	English
Published:	United States John Wiley & Sons, Inc 01-02-2024 Wiley
Subjects:	Abscesses adulthood Adults Antibodies burosumab Calcinosis Calcitriol Cardiovascular diseases Clinical trials Creatinine Disease Endodontics FGF23 Fibroblast growth factor 23 Fractures Growth factors Hyperparathyroidism Hypophosphatemia Kidney diseases Literature reviews Mineralization Muscle pain Orthopedic apparatus Pediatrics PHEX variants Phosphatase Rickets Safety Signs and symptoms Systematic review Vitamin D Vitamin deficiency X‐linked hypophosphatemia Brazil burosumab hyperparathyroidism FGF23 PHEX variants adulthood X-linked hypophosphatemia
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Summary:	Background Disease‐related variants in PHEX cause XLH by an increase of fibroblast growth factor 23 (FGF23) circulating levels, resulting in hypophosphatemia and 1,25(OH)2 vitamin D deficiency. XLH manifests in early life with rickets and persists in adulthood with osseous and extraosseous manifestations. Conventional therapy (oral phosphate and calcitriol) improves some symptoms, but evidence show that it is not completely effective, and it can lead to nephrocalcinosis (NC) and hyperparathyroidism (HPT). Burosumab (anti‐FGF23 antibody) has shown to be effective and safety in the clinical trials. Methods The current real‐world collaborative study evaluated genetic, clinical and laboratory data of XLH Brazilian adult patients treated with burosumab. Results Nineteen unrelated patients were studied. Patients reported pain, limb deformities and claudication, before burosumab initiation. 78% of them were previously treated with conventional therapy. The severity of the disease was moderate to severe (15 patients with score >5). At the baseline, 3 patients presented NC (16.7%) and 12 HPT (63%). After 16 ± 8.4 months under burosumab, we observed a significant: increase in stature (p = 0.02), in serum phosphate from 1.90 ± 0.43 to 2.67 ± 0.52 mg/dL (p = 0.02); in TmP/GFR from 1.30 ± 0.46 to 2.27 ± 0.64 mg/dL (p = 0.0001), in 1,25 (OH)2 D from 50.5 ± 23.3 to 71.1 ± 19.1 pg/mL (p = 0.03), and a decrease in iPTH from 86.8 ± 37.4 pg/mL to 66.5 ± 31.1 (p = 0.002). Nineteen variants were found (10 novel). HPT tended to develop in patients with truncated PHEX variants (p = 0.06). Conclusions This study confirms the efficacy and safety of burosumab on XLH adult patients observed in clinical trials. Additionally, we observed a decrease in iPTH levels in patients with moderate to severe HPT at the baseline.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	2324-9269 2324-9269
DOI:	10.1002/mgg3.2387