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ea0099p446 | Calcium and Bone | ECE2024

Investigating the etiology of non-surgical hypoparathyroidism: insights from a sponsored genetic testing program

Mannstadt Michael , Marelli Claudio , Sridhar Ananth , Smith Lyndsay , Roberts Mary Scott , Adler Scott , Mathew Arun

Hypoparathyroidism is a rare endocrine disorder characterized by inadequate production of parathyroid hormone to maintain normal blood calcium levels. Hypoparathyroidism is most frequently caused by damage to or removal of the parathyroid glands but can also be associated with genetic etiologies. Genetic forms of hypoparathyroidism can present as isolated or as part of a syndrome and include disorders of parathyroid gland formation, parathyroid hormone secretion, and damage to...

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ea0081rc8.2 | Rapid Communications 8: Calcium and Bone | ECE2022

Temporal effects of encaleret (CLTX-305) on mineral physiology in autosomal dominant hypocalcemia type 1 (ADH1): results from a phase 2B, open-label, dose-ranging study [NCT04581629]

Gafni Rachel , Hartley Iris , Roszko Kelly , Pozo Karen , Nemeth Edward , Sani-Grosso Ramei , Mathew Arun , Sridhar Ananth , Scott Roberts Mary , Fox Jonathan , Collins Michael

Autosomal dominant hypocalcemia type 1 (ADH1), caused by gain-of-function variants in the calcium-sensing receptor (CaSR, gene: CASR) and is characterized by hypocalcemia, hyperphosphatemia, low parathyroid hormone (PTH), and hypercalciuria. Calcilytics (negative allosteric modulators of the CaSR) decrease the sensitivity of activated receptors to extracellular calcium and normalize blood and urine abnormalities in ADH1 rodent models. Encaleret is an oral calcilytic u...

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Endocrine Abstracts

Investigating the etiology of non-surgical hypoparathyroidism: insights from a sponsored genetic testing program

Temporal effects of encaleret (CLTX-305) on mineral physiology in autosomal dominant hypocalcemia type 1 (ADH1): results from a phase 2B, open-label, dose-ranging study [NCT04581629]

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