Autosomal Dominant Hypocalcemia
Conditions
Keywords
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, CaSR gene mutation, CaSR mutation, GNA11 gene, GNA11 gene mutation, GNA11 mutation
Brief summary
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
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.
Interventions
None listed
Sponsors
Calcilytix Therapeutics, Inc., a BridgeBio company
Study design
Observational model
COHORT
Time perspective
OTHER
Eligibility
Sex/Gender
ALL
Age
No minimum to 90 Years
Healthy volunteers
No
Inclusion criteria
Key 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 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 Key
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 interventional clinical study at the time of DMS Screening visit Note: Other protocol defined Inclusion/
Design outcomes
Primary
| Measure | 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 |
Secondary
| Measure | 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 | 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 |
Countries
Australia, Belgium, Canada, Denmark, Finland, France, Germany, Italy, Japan, Netherlands, Portugal, United Kingdom, United States
Contacts
STUDY_DIRECTORCalcilytix Medical Director
Calcilytix Therapeutics, Inc., a BridgeBio company
Outcome results
None listed