ClinicalTrials.gg
Active, not recruitingNCT05227287CLARIFYUpdated Apr 30, 2026

ADH1 and ADH2 Disease Monitoring Study (DMS)

An observational study in Autosomal Dominant Hypocalcemia, sponsored by Calcilytix Therapeutics, Inc., a BridgeBio company. Active, not recruiting at 27 sites in 13 countries. Open to participants aged Up to 90 Years. Per ClinicalTrials.gov, last updated 2026-04-30.

Sponsored by Calcilytix Therapeutics, Inc., a BridgeBio company (part of BridgeBio) · Observational

Study type
Observational
Model
Cohort
Time perspective
Other
Enrollment
95
Ages
Up to 90 Years
Sex
All
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Study 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.

Read the 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.

02

Conditions studied

  • Autosomal Dominant Hypocalcemia

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
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In context

Hypocalcemia

98 studies on the registry are indexed under Hypocalcemia; 16 are open to participants now.

This study's enrollment of 95 is below the median of 123 across 29 observational studies indexed under Hypocalcemia.

Browse Hypocalcemia studies →

Lead sponsor

Calcilytix Therapeutics, Inc., a BridgeBio company is the lead sponsor of 5 studies on the registry; 2 are open to participants now.

Counted across the registry records on this site, refreshed daily.

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Who can participate

Ages eligible
Up to 90 Years
Sexes eligible
All
Accepts healthy volunteers
No
Sampling method
Non-probability sample

Study population

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.

Eligibility 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 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/Exclusion criteria may apply.

Terms in these criteria, in plain language(1)

Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.

Informed consent

Before you join, the study team explains what taking part involves — its purpose, what happens, the risks and possible benefits — and answers your questions, so you can decide freely. Consent is usually recorded on a form (the informed consent form, ICF) signed by you or, where the law allows, by someone legally authorised to decide for you.

You can keep asking questions during the study, you are told of new information that matters, and you can choose to leave at any time.

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Study design

Observational model
Cohort
Time perspective
Other
Enrollment
95 participants (actual)
Patient registry
No

Groups and cohorts

  • 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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What researchers measure

Primary outcomes

  1. Blood Calcium Homeostasis

    Time frame: Up to 60 months

  2. Phosphorus Homeostasis

    Time frame: Up to 60 months

  3. Magnesium Homeostasis

    Time frame: Up to 60 months

  4. Intact Parathyroid Hormone (iPTH) Homeostasis

    Time frame: Up to 60 months

  5. Mineral Homeostasis as Assessed by 1,25-dihydroxyvitamin D Homeostasis

    Time frame: Up to 60 months

  6. Urine Calcium Homeostasis

    Time frame: Up to 60 months

  7. Urine Phosphorus Homeostasis

    Time frame: Up to 60 months

  8. Urine Magnesium Homeostasis

    Time frame: Up to 60 months

Secondary outcomes

  1. Blood Creatinine Levels

    Time frame: Up to 60 months

  2. Estimated Glomerular Filtration Rate (eGFR)

    Time frame: Up to 60 months

  3. Number of Participants With Nephrocalcinosis and Nephrolithiasis as Assessed by Renal Ultrasound

    Time frame: Up to 60 months

  4. Bone Mineral Density as Assessed by Dual-Energy X-Ray Absorptiometry (DXA)

    Time frame: Up to 60 months

  5. 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

  6. 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

  7. Number of Participants Receiving One or More ADH1/2 Treatment Regimens

    Time frame: Up to 60 months

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Study locations

27 sites
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References and documents

Individual participant data

Plan to share: No

No publications or documents are linked to this record.

09

Updates

Tracking since Sep 25, 2026
No changes since tracking began. The registry record was last updated on Apr 30, 2026, before this site started recording changes on Sep 25, 2026. Its history is on ClinicalTrials.gov ↗
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Registry details

Key details

Study ID
NCT05227287
Responsible party
Sponsor
First posted
Feb 7, 2022
Start date
Jan 20, 2022
Primary completion
Nov 2028 (estimated)
Completion
Dec 2028 (estimated)
Last update
Apr 30, 2026

Study contacts

Calcilytix Medical Director
study director · Calcilytix Therapeutics, Inc., a BridgeBio company

Oversight

Data monitoring committee
No
FDA-regulated drug
No
FDA-regulated device
No
View the source record on ClinicalTrials.gov ↗

Not currently enrolling

This study is active, not recruiting, as verified in Apr 2026. You cannot join it, but the record below documents what was studied.

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