Citations 2
Treatment of Children and Adults With X-Linked Hypophosphatemia With Calcitriol Alone: A Prospective, Open-Label Study
Jordan, Mackenzie, Gehman, Sarah, Rudolph, Sara , Jüppner, Harald , Thacher, Thomas, Lee, Hang , Gee, Michael S. , Pierce, Theodore T. , Ceglia, Lisa, Bouxsein, Mary , Demay, Marie B. , Liu, Eva S. , Lee, Hang , Ceglia, Lisa , Liu, Eva S , Mitchell, Deborah M. , Misra, Madhusmita , Thacher, Thomas, Gee, Michael Stanley
The Journal of Clinical Endocrinology & Metabolism | October 23, 2025 | Volume: 111 | Issue: 4 | Pages: e1037-e1049
Abstract Context Preclinical studies demonstrate that treatment with calcitriol attenuates skeletal complications in mice with X-linked hypophosphatemia (XLH). Objective This work aimed to assess serum markers of mineral metabolism, nephrocalcinosis, skeletal microarchitecture, growth, and evidence of rickets following calcitriol monotherapy in children and adults with XLH. Methods A 1-year, prospective, single-arm, open-label study was conducted comparing baseline and 12-month outcomes. Participants were recruited from outpatient endocrinology clinics in the United States. Data were collected in a research unit. Eligible participants were aged 4 years or older, not pregnant, with baseline 25-hydroxyvitamin D of 20 ng/mL or greater and normal serum calcium. Participants were treated with calcitriol, with dose based on serum and urinary calcium concentrations, for 1 year. The primary end points were change in serum phosphate and nephrocalcinosis (all participants) and rickets severity score (children). Secondary end points included changes in additional markers of mineral metabolism, skeletal microarchitecture parameters via high-resolution peripheral quantitative computed tomography (all participants), and height z-scores (children). Results Serum phosphate did not change over 12 months of optimized calcitriol treatment. Rickets improved in 2 of 4 children with open epiphyses; height z-scores were unchanged. Nephrocalcinosis scores remained stable. Adults had increased cortical thickness at the radius diaphysis (P = .012). Serum alkaline phosphatase decreased in children (P = .021) and parathyroid hormone trended lower both in children (P = .065) and adults (P = .063). Four participants developed mild hypercalcemia and 2 developed hypercalciuria that resolved with calcitriol titration. Conclusion Calcitriol monotherapy is safe and well-tolerated in XLH, with modest benefits on laboratory indices of mineral metabolism and rickets.
Hypoparathyroidism in the adult: Epidemiology, diagnosis, pathophysiology, target-organ involvement, treatment, and challenges for future research
Bilezikian, John P. , Khan, Aliya , Potts, John T. , Shoback, Dolores , Jüppner, Harald , D'Amour, P, Fox, John, Rejnmark, Lars , Mosekilde, Leif , Rubin, Mishaela R. , Gafni, Rachel I. , Sliney, J., Sanders, James M. , Brandi, Maria Luisa , Clarke, B.L. , Dempster, David W. , Collins, Michael Terrence , Rejnmark, Lars
Journal of Bone and Mineral Research | August 2, 2011 | Volume: 26 | Issue: 10 | Pages: 2317-2337
Abstract Recent advances in understanding the epidemiology, genetics, diagnosis, clinical presentations, skeletal involvement, and therapeutic approaches to hypoparathyroidism led to the First International Workshop on Hypoparathyroidism that was held in 2009. At this conference, a group of experts convened to discuss these issues with a view towards a future research agenda for this disease. This review, which focuses primarily on hypoparathyroidism in the adult, provides a comprehensive summary of the latest information on this disease. © 2011 American Society for Bone and Mineral Research