Autosomal Dominant Hypocalcemia discorder of calcium homeostasis
Conditions
Interventions
None listed
Sponsors
Calcilytix Therapeutics
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: Participants from birth to age 90 years must meet all the following criteria for inclusion during screening: 1. Have a documented activating variant or variant of uncertain significance of the CASR gene for ADH1 or documented activating variant or variant of uncertain significance of the GNA11 gene for 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. 2. Be willing and able to provide informed consent or assent after the nature of the study has been explained, and prior to any research-related procedures 3. Be willing and able to provide access to prior medical records including imaging, biochemical, and diagnostic and medical history data, if available 4. Be willing and able to comply with the study visit schedule and study procedure
Exclusion criteria
Exclusion criteria: Participants are excluded from the study if any of the following criteria apply: 1. 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 2. Enrollment in an ADH1/2 interventional clinical study at the time of DMS Screening visit
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Retrospective and prospective assessment of mineral homeostasis over time, including blood calcium, phosphorus, magnesium, intact PTH (iPTH), 1,25-dihydroxyvitamin D and urine calcium, phosphorus, and magnesium handling | — |
Secondary
| Measure | Time frame |
|---|---|
| Retrospective and prospective assessment of renal health over time, including blood creatinine and estimated glomerular filtration rate (eGFR) • Retrospective and prospective assessment of renal ultrasound to evaluate for nephrocalcinosis and nephrolithiasis • Retrospective and prospective assessment of dual-energy X-ray absorptiometry (DXA) to evaluate bone mineral density and assessment of bone turnover markers • SF-36 (participants >=16 years) and SF-10 (participants >= 6 years and | — |
Countries
Netherlands
Outcome results
None listed