CLARIFY: ADH1 and ADH2 Disease Monitoring Study (DMS)

Study Overview
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Brief Summary
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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.

Detailed Description
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The ADH1 and ADH2 DMS is designed to better understand the disease burden of ADH1 and ADH2, how participants with ADH1 or ADH2 are managed with standard of care practices in a real-world setting, and how standard of care treatment impacts ADH1 and ADH2 symptoms. The study will include adult and pediatric participants with a confirmed clinical diagnosis of ADH1 or ADH2. Each participant's data will be collected over a period of up to 5 years. In addition, retrospective (or past) data will be collected.

Official Title
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CLARIFY: Autosomal Dominant Hypocalcemia Types 1 And 2 (ADH1/2) Disease Monitoring Study (DMS)

Conditions
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Autosomal Dominant Hypocalcemia

Participation Criteria
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Eligibility Criteria
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Inclusion Criteria: 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 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 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 Exclusion Criteria: Have serious medical or psychiatric comorbidity that, in the opinion of the Investigator, would present a concern for participant safety or compromise the ability to provide consent or assent, or comply with the study visit schedule and study procedures Enrollment in an ADH1 or ADH2 interventional clinical study at the time of DMS Screening visit or at any point during the DMS

Ages Eligible for Study
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Maximum Age: 90 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| Retrospective and prospective determination of the biochemical manifestations of ADH1 and ADH2 over time | Retrospective and prospective assessment of blood calcium homeostasis over time | Initial diagnosis through the duration of the study (Month 60) | 
| Retrospective and prospective determination of the biochemical manifestations of ADH1 and ADH2 over time | Retrospective and prospective assessment of phosphorus homeostasis over time | Initial diagnosis through the duration of the study (Month 60) | 
| Retrospective and prospective determination of the biochemical manifestations of ADH1 and ADH2 over time | Retrospective and prospective assessment of magnesium homeostasis over time | Initial diagnosis through the duration of the study (Month 60) | 
| Retrospective and prospective determination of the biochemical manifestations of ADH1 and ADH2 over time | Retrospective and prospective assessment of intact PTH (iPTH) homeostasis over time | Initial diagnosis through the duration of the study (Month 60) | 
| Retrospective and prospective determination of the biochemical manifestations of ADH1 and ADH2 over time | Retrospective and prospective assessment of intact 1,25-dihydroxyvitamin D homeostasis over time | Initial diagnosis through the duration of the study (Month 60) | 
| Retrospective and prospective determination of the biochemical manifestations of ADH1 and ADH2 over time | Retrospective and prospective assessment of urine calcium homeostasis over time | Initial diagnosis through the duration of the study (Month 60) | 
| Retrospective and prospective determination of the biochemical manifestations of ADH1 and ADH2 over time | Retrospective and prospective assessment of urine phosphorus homeostasis over time | Initial diagnosis through the duration of the study (Month 60) | 

 Terms related to the study
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Keywords Provided by Centre Hospitalier Valida
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CaSR gene, Autosomal Dominant Hypocalcemia Type 1 (ADH1), Autosomal Dominant Hypocalcemia Type 2 (ADH2), Hypocalcemia, Musculoskeletal Diseases, Muscular Diseases, Musculoskeletal Abnormalities, Calcium Metabolism Disorders, Metabolic Diseases, Hypoparathyroidism, Hypocalcemic Seizures, Hypercalciuria, Nephrocalcinosis, Nephrolithiasis, Calcium Sensing Receptor, CaSR gene mutation, CaSR mutation, GNA11 gene, GNA11 gene mutation, GNA11 mutation