ECEESPE2025 ePoster Presentations Bone and Mineral Metabolism (142 abstracts)
Palopegteriparatide for the treatment of autosomal dominant hypocalcemia type 1 (ADH1)
Maria Eleni Chondrogianni 1,2,3 , Anna Angelousi 4 , Anna Papadopoulou 5 , Eirini Biliou 1 , Ioannis Kyrou 6,7,8 , Harpal Randeva 6,7,9 , Elpis Vlachopapadopoulou 10 & Eva Kassi 1,2,3
1Endocrine Unit, 1st Department of Propaepeudic Internal Medicine, Laiko Hospital, National and Kapodistrian University of Athens, 11527, Athens, Greece; 2Department of Biological Chemistry, Medical School, National and Kapodistrian University of Athens, 11527 Athens, Greece, Athens, Greece; 3Center of Excellence for Rare Endocrine Diseases (C.E.R.E.D.), General Hospital of Athens, LAIKO, National and Kapodistrian University of Athens, European Reference Network on Rare Endocrine Conditions (ENDO-ERN), Athens, Greece; 4Unit of Endocrinology, 1st Department of Internal Medicine, National and Kapodistrian University of Athens, Athens, Greece; 53rd Department of Pediatric, University General Hospital "Attikon", Medical School, National and Kapodistrian University of Athens, Athens, Greece; 6Warwick Medical School, University of Warwick, Coventry CV4 7AL, Coventry, United Kingdom; 7Warwickshire Institute for the Study of Diabetes, Endocrinology and Metabolism (WISDEM), University Hospitals Coventry and Warwickshire NHS Trust, Coventry, CV2 2DX, Coventry, United Kingdom; 8Aston Medical School, College of Health and Life Sciences, Aston University, Birmingham, B4 7ET, Birmingham, United Kingdom; 9University Hospitals Coventry and Warwickshire NHS Trust, Institute for Cardiometabolic Medicine, Coventry, United Kingdom; 10Department of Endocrinology-Growth and Development, Children’s Hospital P. & A. Kyriakou, 11527, Athens, Greece
JOINT1857
Introduction: Autosomal dominant hypocalcemia (ADH) type 1 is a rare form of hypoparathyroidism, caused by heterozygous, inherited or de novo, activating mutations in the CASR. The management of patients with ADH1 is challenging. They are usually treated as “common” primary hypoparathyroidism with conventional therapy or PTH analogues due to either absence of accurate diagnosis or to limited access to the proper therapy (calcilytics which function as negative allosteric modulators of the CaSR).
Case presentation: A 33-year-old man, diagnosed with ADH1 and Bartter’s Syndrome (c.2486A>G in exon 7 of the CaSR gene) and Chronic myeloid leukemia (CML) was followed at the outpatient department. He was treated with calcium carbonate 500mg 1x2, alfacalcidol 1 mg 1×1, cholecalciferol 800UI 1×1, hydrochlorothiazide 25mg 1×1, rhPTH (Natpar) 75-100 mg 1×1 and magnesium supplements. He also received dasatinib for the CML. However, his management was not optimal. His serum corrected calcium was ranged from 6.1 to 8.9 mg/dl (normal range: 8.5 to 10.5 mg/d), serum phosphate level was ranged from 3.7 to 4.5 mg/dL (2.7-4.5), serum magnesium was ranged from 1.3-1.6 mg/dl (1.6-2.4), and he had a pronounced hypercalciuria (urine calcium: 520- 863 mg/24h). In October 2024 palopegteriparatide (Yorvipath) was initiated (18mg 1×1) and titrated. Almost three months after the initiation of the treatment (January 2025) the patient is treated with palopegteriparatide (Yorvipath) 30mg 1×1 and hydrochlorothiazide 25mg ½ x1) while he is independent form calcium supplements and alfacalcidol. His serum corrected calcium is 9.6 mg/dl, serum phosphate level is 3.3 mg/dL, serum magnesium was 2.1 mg/dl (1.6-2.4), and the 24h urine calcium is 390 mg/24h.
Conclusion: Until the launch of the calcilytics, palopegteriparatide (Yorvipath) may represent a valuable alternative for the management of ADH1.
References: 1. Roszko KL et al. Autosomal Dominant Hypocalcemia Type 1: A Systematic Review. J Bone Miner Res. 2022 Oct;37(10):1926-1935.2. Roberts MS et al. Treatment of autosomal dominant hypocalcemia type 1 with the calcilytic NPSP795 (SHP635). J Bone Miner Res. 2019;34(9):1609-1618
Volume 110
Article tools
My recent searches
My recently viewed abstracts
Authors
Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
© Bioscientifica 2025 |
Privacy policy |
Cookie settings
BiosciAbstracts
Bioscientifica Abstracts is the gateway to a series of products that provide a permanent, citable record of abstracts for biomedical and life science conferences.
Find out more