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OpenTrials
Active, Not Recruiting

NCT Number: NCT05227287

ADH1 and ADH2 Disease Monitoring Study (DMS)

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.

Active, Not Recruiting

This study is active but is not currently recruiting participants.

Key information

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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/Exclusion criteria may apply.

Treatment and study plan

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

Sponsors and collaborators

Lead sponsor

Calcilytix Therapeutics, Inc., a BridgeBio company

Industry

Registry information

Official study title

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

Acronym: CLARIFY

Important dates

Study start
2022
Primary completion
2028
Study completion
2028
First posted
Feb 7, 2022
Registry last updated
Apr 30, 2026

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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