Autosomal Dominant Hypocalcemia Types 1 And 2 (ADH1/2) Disease Monitoring Study (DMS)
A global, multi-center, Disease Monitoring Study (DMS) in participants with Autosomal Dominant Hypocalcemia Type 1 (ADH1) or Autosomal Dominant Hypocalcemia Type 2 (ADH2) designed to characterize ADH1 and ADH2 disease presentation and progression through retrospective (past) and longitudinal prospective (over time into the future) data collection.
• Have a documented activating variant or variant of uncertain significance of the CASR gene causative of ADH1 or documented activating variant or variant of uncertain significance of the GNA11 gene causative of ADH2 associated with a clinical syndrome of hypoparathyroidism prior to enrollment
⁃ Note: Acceptable documentation includes CASR or GNA11 genetic analysis report. If no prior documented CASR or GNA11 gene variant or variant of uncertain significance, potential participants can undergo CASR and GNA11 gene variant analysis at Screening.
• Be willing and able to provide informed consent or assent after the nature of the study and its details have been explained, and prior to any research-related procedures
• Be willing and able to provide access to prior medical records including imaging, biochemical, and diagnostic and medical history data, if available
• Be willing and able to comply with the study visit schedule and study procedures