Article
Endocrinology & Metabolism
Leanne M. Ward, Francis H. Glorieux, Michael P. Whyte, Craig F. Munns, Anthony A. Portale, Wolfgang Hoegler, Jill H. Simmons, Gary S. Gottesman, Raja Padidela, Noriyuki Namba, Hae Il Cheong, Ola Nilsson, Meng Mao, Angel Chen, Alison Skrinar, Mary Scott Roberts, Erik A. Imel
Summary: Burosumab treatment appears to improve outcomes in both younger and older children with XLH, including rickets, lower limb deformities, growth, and alkaline phosphatase, compared with Pi/D.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Thomas J. Weber, Erik A. Imel, Thomas O. Carpenter, Munro Peacock, Anthony A. Portale, Joel Hetzer, J. Lawrence Merritt, Karl Insogna
Summary: The study aimed to evaluate the safety, immunogenicity, and clinical response of long-term burosumab treatment in adult XLH patients. Results showed improvements in fasting serum phosphate levels, bone turnover markers, and patient-reported outcomes, supporting burosumab as a safe and effective long-term treatment option for XLH patients.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Endocrinology & Metabolism
Lothar Seefried, Martin Biosse Duplan, Karine Briot, Michael T. Collins, Rachel Evans, Pablo Florenzano, Neil Hawkins, Muhammad Kassim Javaid, Robin Lachmann, Leanne M. Ward
Summary: X-linked hypophosphatemia (XLH) is a rare genetic disease that affects multiple systems and usually begins in childhood. Conventional therapy has limited benefits in adults, and treatment with burosumab may provide long-term benefits by reducing fracture incidence and stopping progression of clinical sequelae associated with conventional therapy. Dental abscess development may be prevented with burosumab treatment, but improvement in established dental abscesses is not expected. Starting burosumab treatment in childhood and continuing throughout adulthood may optimize patient outcomes.
FRONTIERS IN ENDOCRINOLOGY
(2023)
Article
Medicine, General & Internal
Krishna Baradhi
Summary: X-linked hypophosphatemia is a rare metabolic disorder caused by a mutation in the PHEX gene, leading to increased FGF23 activity and resulting in hypophosphatemia. It is often misdiagnosed as nutritional rickets and is refractory to vitamin D supplementation. Treatment options were limited until the emergence of burosumab.
CUREUS JOURNAL OF MEDICAL SCIENCE
(2022)
Review
Endocrinology & Metabolism
Michael R. Laurent, Jean De Schepper, Dominique Trouet, Nathalie Godefroid, Emese Boros, Claudine Heinrichs, Bert Bravenboer, Brigitte Velkeniers, Johan Lammens, Pol Harvengt, Etienne Cavalier, Jean-Francois Kaux, Jacques Lombet, Kathleen De Waele, Charlotte Verroken, Koenraad van Hoeck, Geert R. Mortier, Elena Levtchenko, Johan Vande Walle
Summary: X-linked hypophosphatemia (XLH) is the most common genetic form of hypophosphatemic rickets and osteomalacia, caused by mutations in the PHEX gene leading to elevated levels of FGF23 hormone. Belgian experts convened to discuss translating international best evidence into locally feasible recommendations to improve diagnostic and therapeutic landscape for XLH patients in Belgium.
FRONTIERS IN ENDOCRINOLOGY
(2021)
Review
Endocrinology & Metabolism
Erik A. Imel
Summary: X-Linked hypophosphatemia (XLH) is the most common genetic cause of rickets, and treatment with burosumab has shown significant improvements in both children and adults. However, many questions remain regarding its impact on various outcomes.
CURRENT OSTEOPOROSIS REPORTS
(2021)
Article
Endocrinology & Metabolism
Erik A. Imel, Francis H. Glorieux, Michael P. Whyte, Anthony A. Portale, Craig F. Munns, Ola Nilsson, Jill H. Simmons, Raja Padidela, Noriyuki Namba, Hae Il Cheong, Pisit Pitukcheewanont, Etienne Sochett, Wolfgang Hoegler, Koji Muroya, Hiroyuki Tanaka, Gary S. Gottesman, Andrew Biggin, Farzana Perwad, Angel Chen, Mary Scott Roberts, Leanne M. Ward
Summary: In this study, burosumab was found to improve rickets in children with X-linked hypophosphatemia (XLH) compared to conventional therapy with active vitamin D and phosphate. The analysis showed that the response to treatment did not differ when switching to burosumab, regardless of prior phosphate or active vitamin D doses.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Endocrinology & Metabolism
Annika Ewert, Mirko Rehberg, Karl Peter Schlingmann, Olaf Hiort, Ulrike John-Kroegel, Oliver Metzing, Elke Wuehl, Franz Schaefer, Markus J. Kemper, Ute Derichs, Annette Richter-Unruh, Ludwig Patzer, Norbert Albers, Desiree Dunstheimer, Holger Haberland, Sabine Heger, Carmen Schroeder, Norbert Jorch, Elmar Schmid, Hagen Staude, Marcus Weitz, Clemens Freiberg, Maren Leifheit-Nestler, Miroslav Zivicnjak, Dirk Schnabel, Dieter Haffner
Summary: This study aimed to assess the effects of 12 months of burosumab treatment on mineral metabolism in children and adolescents with XLH. The results showed that burosumab treatment significantly improved serum phosphate and renal tubular reabsorption of phosphate, while reducing alkaline phosphatase levels. This treatment was equally effective in normalizing mineral metabolism in both children and adolescents.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2023)
Article
Genetics & Heredity
Julia Andre, Volha V. Zhukouskaya, Anne-Sophie Lambert, Jean-Pierre Salles, Brigitte Mignot, Claire Bardet, Catherine Chaussain, Anya Rothenbuhler, Agnes Linglart
Summary: This study found that despite optimal conventional treatment, about 40-50% of children with well-controlled X-linked hypophosphatemia (XLH) experience linear growth failure. However, rhGH treatment significantly improved their final height.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Article
Endocrinology & Metabolism
Yuichi Takashi, Kyoko Toyokawa, Naoki Oda, Yoshimi Muta, Hisashi Yokomizo, Seiji Fukumoto, Daiji Kawanami
Summary: This report describes a case of adult XLH and tertiary hyperparathyroidism, finding that serum phosphate levels remained low despite burosumab treatment. Treatment with the calcimimetic evocalcet increased serum phosphate levels and tubular maximum reabsorption of phosphate. Therefore, evaluating the presence of hyperparathyroidism is important in patients whose serum phosphate levels do not increase with burosumab treatment.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Pediatrics
Neil J. Paloian, Blaise Nemeth, Mark Sharafinski, Peggy Modaff, Robert D. Steiner
Summary: The application of burosumab in pediatric patients with XLH was found to be effective and safe. Burosumab demonstrated significant improvement in laboratory markers, radiographic severity scores of rickets, and height compared to conventional therapy.
PEDIATRIC NEPHROLOGY
(2022)
Article
Pediatrics
Yael Levy-Shraga, Shelly Levi, Ravit Regev, Shoshana Gal, Avivit Brener, Yael Lebenthal, David Gillis, David Strich, Amnon Zung, Roxana Cleper, Yael Borovitz, Rachel Bello, Ariel Tenenbaum, Zvi Zadik, Miriam Davidovits, Leonid Zeitlin, Dov Tiosano
Summary: This study evaluated the long-term efficacy of burosumab for pediatric patients with X-linked hypophosphatemia, finding that burosumab improved phosphate homeostasis and rickets severity, leading to enhanced linear growth.
EUROPEAN JOURNAL OF PEDIATRICS
(2023)
Article
Endocrinology & Metabolism
Anne Gladding, Vivian Szymczuk, Bethany A. Auble, Alison M. Boyce
Summary: This study reports the first case of a 7-year-old boy with FD/MAS treated with burosumab. The patient achieved normalization of serum phosphorus, marked improvement in alkaline phosphatase levels, and showed encouraging clinical response without any observed adverse effects. Future studies are needed to further explore the safety and efficacy of burosumab in the pediatric population with FD/MAS.
Article
Rheumatology
Justine Bacchetta, Anya Rothenbuhler, Iva Gueorguieva, Peter Kamenicky, Jean-Pierre Salles, Karine Briot, Agnes Linglart
Summary: Hereditary hypophosphatemia with increased FGF23 levels is a rare inherited metabolic disease characterized by low serum phosphate levels. Treatment options include oral phosphate supplementation with active vitamin D analogs or the recently approved anti-FGF23 drug burosumab.
Article
Pediatrics
Marina Giralt, Sara Chocron, Roser Ferrer, Gema Ariceta
Summary: This study found that measuring FGF23 levels is a useful tool to exclude XLH in patients with increased phosphate wasting of kidney origin. It can effectively discriminate between XLH and FS.
PEDIATRIC NEPHROLOGY
(2021)