Autosomal Dominant Hypocalcemia Types 1 and 2 (ADH1/2) Disease Monitoring Study (DMS)

Recruiting

Conditions: Autosomal Dominant Hypocalcemia
discorder of calcium homeostasis
10013296

Registration Number: NL-OMON53610

Lead Sponsor: Calcilytix Therapeutics

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

Target Recruitment: 2

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 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

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 or at any point during the DMS

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Retrospective and prospective assessment of mineral homeostasis over time,<br /><br>including blood calcium, phosphorus, magnesium, intact PTH (iPTH),<br /><br>1,25-dihydroxyvitamin D and urine calcium, phosphorus, and magnesium handling</p><br>

Secondary Outcome Measures

Name	Time	Method
<p> Retrospective and prospective assessment of renal health over time, including<br /><br>blood creatinine and estimated glomerular filtration rate (eGFR)<br /><br>• Retrospective and prospective assessment of renal ultrasound to evaluate for<br /><br>nephrocalcinosis and nephrolithiasis<br /><br>• Retrospective and prospective assessment of dual-energy X-ray absorptiometry<br /><br>(DXA) to evaluate bone mineral density and assessment of bone turnover markers<br /><br>• SF-36 (participants >=16 years) and SF-10 (participants >= 6 years and < 16<br /><br>years)<br /><br>• Retrospective and prospective assessment of ADH1/2 treatment regimens<br /><br>• ADH1/2 Questionnaires<br /><br>• Baseline and prospective assessment of electrocardiogram (ECG) and cardiac<br /><br>symptoms</p><br>