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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.
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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| ADH 1/2 DMS | Participants with ADH1 or ADH2. No investigational product will be administered to participants in this study. Participants will only receive standard of care (SoC) treatment as directed by the participants' treating physicians. |
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| Measure | Description | Time Frame |
|---|---|---|
| Blood Calcium Homeostasis | Up to 60 months | |
| Phosphorus Homeostasis | Up to 60 months | |
| Magnesium Homeostasis | Up to 60 months | |
| Intact Parathyroid Hormone (iPTH) Homeostasis | Up to 60 months | |
| Mineral Homeostasis as Assessed by 1,25-dihydroxyvitamin D Homeostasis | Up to 60 months | |
| Urine Calcium Homeostasis | Up to 60 months | |
| Urine Phosphorus Homeostasis | Up to 60 months | |
| Urine Magnesium Homeostasis | Up to 60 months |
| Measure | Description | Time Frame |
|---|---|---|
| Blood Creatinine Levels | Up to 60 months | |
| Estimated Glomerular Filtration Rate (eGFR) | Up to 60 months | |
| Number of Participants With Nephrocalcinosis and Nephrolithiasis as Assessed by Renal Ultrasound |
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Key Inclusion Criteria:
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.
Key Exclusion Criteria:
Note: Other protocol defined Inclusion/Exclusion criteria may apply.
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Eligible participants include children (birth to 17 years) and adults (18 - 90 years) with ADH1 or ADH2 as determined by an activating variant of CASR in ADH1 or GNA11 in ADH2.
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| Name | Affiliation | Role |
|---|---|---|
| Calcilytix Medical Director | Calcilytix Therapeutics, Inc., a BridgeBio company | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| University of California, San Francisco (UCSF) - Benioff Children's Hospital - Oakland | Oakland | California | 94609 | United States | ||
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| Up to 60 months |
| Bone Mineral Density as Assessed by Dual-Energy X-Ray Absorptiometry (DXA) | Up to 60 months |
| Change from Baseline in 36-Item Short Form Health Survey (SF-36v2) Physical Component Score and Mental Component Score in Participants ≥ 16 years | Up to 60 months |
| Change from Baseline in 10-Item Short-Form 10 Healthy Survey for Children (SF-10) Score in participants ≥ 6 years and <16 years | Up to 60 months |
| Number of Participants Receiving One or More ADH1/2 Treatment Regimens | Up to 60 months |
| Children's Hospital Colorado |
| Aurora |
| Colorado |
| 80045 |
| United States |
| Nemours Children's Clinic | Jacksonville | Florida | 32207 | United States |
| Indiana University (IU) School of Medicine - University Hospital | Indianapolis | Indiana | 46202 | United States |
| Boston Children's Hospital | Boston | Massachusetts | 02115 | United States |
| Mayo Clinic | Rochester | Minnesota | 55902 | United States |
| Physician's East Endocrinology | Greenville | North Carolina | 27834 | United States |
| Cincinnati Children's Hospital Medical Center | Cincinnati | Ohio | 45229 | United States |
| Ohio State University Medical Center (OSUMC) | Columbus | Ohio | 43210 | United States |
| Royal North Shore Hospital | Saint Leonards | New South Wales | 2065 | Australia |
| Universitaire Ziekenhuizen Leuven | Leuven | Flemish Brabant | 3000 | Belgium |
| Bone Research and Education Centre | Oakville | Ontario | L6M 1M1 | Canada |
| Aarhus University Hospital | Aarhus | 8200 | Denmark |
| Helsinki University Hospital (HUS) - The New Children's Hospital | Helsinki | 00290 | Finland |
| HCL Hopital Femme Mere Enfant | Bron | Auvergne-Rhône-Alpes | 69500 | France |
| HCL Hopital Edouard Herriot | Lyon | Auvergne-Rhône-Alpes | 69003 | France |
| CHU de Lille | Lille | 59000 | France |
| Departement d'Endocrinologie et Diabetes pour Enfants - AP-HP Hopital Bicetre | Le Kremlin-Bicêtre | Île-de-France Region | 94270 | France |
| Endokrinologikum Gottingen | Göttingen | 37075 | Germany |
| Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano | Milan | Lombardy | 20122 | Italy |
| IRCCS Ospedale San Raffaele | Milan | Lombardy | 20132 | Italy |
| Policlinico Universitario Campus Bio-Medico | Rome | 00128 | Italy |
| Osaka University Hospital | Osaka | 565-0871 | Japan |
| The University of Tokyo Hospital | Tokyo | 113-8655 | Japan |
| Erasmus MC | Rotterdam | 3015 GD | Netherlands |
| Centro Hospitalar Universitario de Lisboa Norte - Hospital de Santa Maria | Lisbon | 1649-028 | Portugal |
| Royal Manchester Children's Hospital | Manchester | M13 9WL | United Kingdom |
| ID | Term |
|---|---|
| C562783 | Hypercalciuric Hypocalcemia, Familial |
| D006996 | Hypocalcemia |
| D009140 | Musculoskeletal Diseases |
| D009135 | Muscular Diseases |
| D009139 | Musculoskeletal Abnormalities |
| D002128 | Calcium Metabolism Disorders |
| D008659 | Metabolic Diseases |
| D007011 | Hypoparathyroidism |
| D053565 | Hypercalciuria |
| D009397 | Nephrocalcinosis |
| D053040 | Nephrolithiasis |
| ID | Term |
|---|---|
| D009750 | Nutritional and Metabolic Diseases |
| D014883 | Water-Electrolyte Imbalance |
| D009468 | Neuromuscular Diseases |
| D009422 | Nervous System Diseases |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D010279 | Parathyroid Diseases |
| D004700 | Endocrine System Diseases |
| D020924 | Urological Manifestations |
| D012816 | Signs and Symptoms |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D007674 | Kidney Diseases |
| D014570 | Urologic Diseases |
| D052776 | Female Urogenital Diseases |
| D005261 | Female Urogenital Diseases and Pregnancy Complications |
| D000091642 | Urogenital Diseases |
| D052801 | Male Urogenital Diseases |
| D002114 | Calcinosis |
| D052878 | Urolithiasis |
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