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.
Study Type
OBSERVATIONAL
Enrollment
95
Blood Calcium Homeostasis
Time frame: Up to 60 months
Phosphorus Homeostasis
Time frame: Up to 60 months
Magnesium Homeostasis
Time frame: Up to 60 months
Intact Parathyroid Hormone (iPTH) Homeostasis
Time frame: Up to 60 months
Mineral Homeostasis as Assessed by 1,25-dihydroxyvitamin D Homeostasis
Time frame: Up to 60 months
Urine Calcium Homeostasis
Time frame: Up to 60 months
Urine Phosphorus Homeostasis
Time frame: Up to 60 months
Urine Magnesium Homeostasis
Time frame: Up to 60 months
Blood Creatinine Levels
Time frame: Up to 60 months
Estimated Glomerular Filtration Rate (eGFR)
Time frame: Up to 60 months
Number of Participants With Nephrocalcinosis and Nephrolithiasis as Assessed by Renal Ultrasound
Time frame: Up to 60 months
Bone Mineral Density as Assessed by Dual-Energy X-Ray Absorptiometry (DXA)
Time frame: Up to 60 months
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University of California, San Francisco (UCSF) - Benioff Children's Hospital - Oakland
Oakland, California, United States
Children's Hospital Colorado
Aurora, Colorado, United States
Nemours Children's Clinic
Jacksonville, Florida, United States
Indiana University (IU) School of Medicine - University Hospital
Indianapolis, Indiana, United States
Boston Children's Hospital
Boston, Massachusetts, United States
Mayo Clinic
Rochester, Minnesota, United States
Physician's East Endocrinology
Greenville, North Carolina, United States
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, United States
Ohio State University Medical Center (OSUMC)
Columbus, Ohio, United States
Royal North Shore Hospital
Saint Leonards, New South Wales, Australia
...and 17 more locations
Change from Baseline in 36-Item Short Form Health Survey (SF-36v2) Physical Component Score and Mental Component Score in Participants ≥ 16 years
Time frame: 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
Time frame: Up to 60 months
Number of Participants Receiving One or More ADH1/2 Treatment Regimens
Time frame: Up to 60 months