Autosomal Dominant HypocalcemiaCLARIFYNCT05227287
ADH1 and ADH2 Disease Monitoring Study (DMS)
An observational study of Autosomal Dominant Hypocalcemia, run by Calcilytix Therapeutics, Inc., a BridgeBio company at 27 sites in 13 countries.
Trial 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… Read more about this study
- Who is it for?
- Ages Up to 90 years
- Conditions the study is for
- Autosomal Dominant Hypocalcemia
- How many people
- 95 participants
- Where
- 27 sitesin 13 countries
- Study dates
- 20 Jan 2022to Dec 2028
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Up to 90 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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
Who cannot join
- 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.
Trial locations and contacts
27 sites in 13 countries.
27 sites in 13 countries
United States9 sites
Children's Hospital Colorado
Aurora, Colorado, 80045
Boston Children's Hospital
Boston, Massachusetts, 02115
Cincinnati Children's Hospital Medical Center
Cincinnati, Ohio, 45229
Ohio State University Medical Center (OSUMC)
Columbus, Ohio, 43210
Physician's East Endocrinology
Greenville, North Carolina, 27834
Indiana University (IU) School of Medicine - University Hospital
Indianapolis, Indiana, 46202
Nemours Children's Clinic
Jacksonville, Florida, 32207
University of California, San Francisco (UCSF) - Benioff Children's Hospital - Oakland
Oakland, California, 94609
Mayo Clinic
Rochester, Minnesota, 55902
France4 sites
HCL Hopital Femme Mere Enfant
Bron, Auvergne-Rhône-Alpes, 69500
Departement d'Endocrinologie et Diabetes pour Enfants - AP-HP Hopital Bicetre
Le Kremlin-Bicêtre, Île-de-France Region, 94270
CHU de Lille
Lille, 59000
HCL Hopital Edouard Herriot
Lyon, Auvergne-Rhône-Alpes, 69003
Italy3 sites
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano
Milan, Lombardy, 20122
IRCCS Ospedale San Raffaele
Milan, Lombardy, 20132
Policlinico Universitario Campus Bio-Medico
Rome, 00128
Japan2 sites
Osaka University Hospital
Osaka, 565-0871
The University of Tokyo Hospital
Tokyo, 113-8655
Australia1 site
Royal North Shore Hospital
Saint Leonards, New South Wales, 2065
Finland1 site
Helsinki University Hospital (HUS) - The New Children's Hospital
Helsinki, 00290
Portugal1 site
Centro Hospitalar Universitario de Lisboa Norte - Hospital de Santa Maria
Lisbon, 1649-028
United Kingdom1 site
Royal Manchester Children's Hospital
Manchester, M13 9WL
About this study
Official title: Autosomal Dominant Hypocalcemia Types 1 And 2 (ADH1/2) 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.
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.
- Conditions
- 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
- Medical subject headings
- Hypercalciuric Hypocalcemia, Familial, Hypocalcemia, Musculoskeletal Diseases, Muscular Diseases, Musculoskeletal Abnormalities, Calcium Metabolism Disorders, Metabolic Diseases, Hypoparathyroidism
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Blood Calcium Homeostasis
Measured: Up to 60 months
Phosphorus Homeostasis
Measured: Up to 60 months
Magnesium Homeostasis
Measured: Up to 60 months
Intact Parathyroid Hormone (iPTH) Homeostasis
Measured: Up to 60 months
Mineral Homeostasis as Assessed by 1,25-dihydroxyvitamin D Homeostasis
Measured: Up to 60 months
Urine Calcium Homeostasis
Measured: Up to 60 months
Urine Phosphorus Homeostasis
Measured: Up to 60 months
Urine Magnesium Homeostasis
Measured: Up to 60 months
Secondary outcomes (7)
Blood Creatinine Levels
Measured: Up to 60 months
Estimated Glomerular Filtration Rate (eGFR)
Measured: Up to 60 months
Number of Participants With Nephrocalcinosis and Nephrolithiasis as Assessed by Renal Ultrasound
Measured: Up to 60 months
Bone Mineral Density as Assessed by Dual-Energy X-Ray Absorptiometry (DXA)
Measured: 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
Measured: 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
Measured: Up to 60 months
Number of Participants Receiving One or More ADH1/2 Treatment Regimens
Measured: Up to 60 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted7 Feb 2022
- Study start20 Jan 2022
- Primary completionNov 2028 (estimated)
- Study completionDec 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Autosomal Dominant HypocalcemiaStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Other
- Enrolment
- 95 participants (actual)
Sponsor and investigators
- Lead sponsor
- Calcilytix Therapeutics, Inc., a BridgeBio company
- Sponsor type
- Industry (pharma, biotech, devices)
- Responsible party
- Sponsor
- Investigators
- Calcilytix Medical Director, Study director, Calcilytix Therapeutics, Inc., a BridgeBio company
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05227287
- Sponsor's protocol ID
- CLTX-305-901
- Acronym
- CLARIFY
- Status last verified
- Apr 2026
- First submitted
- 18 Jan 2022
- Last updated
- 30 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 30 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Autosomal Dominant Hypocalcemia Types 1 And 2 (ADH1/2) Disease Monitoring Study (DMS)
- ClinicalTrials.gov ID
- NCT05227287
- Acronym / sponsor ID
- CLARIFY / CLTX-305-901
- Conditions
- 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
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 95 participants (actual)
- Lead sponsor
- Calcilytix Therapeutics, Inc., a BridgeBio companyIndustry (pharma, biotech, devices)
- Study start
- 20 Jan 2022 (actual)
- Primary completion
- Nov 2028 (estimated)
- Study completion
- Dec 2028 (estimated)
- First posted
- 7 Feb 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
Study design
- Observational model
- Cohort
- Time perspective
- Other
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Ages
- Up to 90 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (5 listed)
- 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 (3 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Blood Calcium Homeostasis
Time frame: Up to 60 months
Phosphorus Homeostasis
Time frame: Up to 60 months
Magnesium Homeostasis
Time frame: Up to 60 months
Intact Parathyroid Hormone (iPTH) Homeostasis
Time frame: Up to 60 months
Mineral Homeostasis as Assessed by 1,25-dihydroxyvitamin D Homeostasis
Time frame: Up to 60 months
Urine Calcium Homeostasis
Time frame: Up to 60 months
Urine Phosphorus Homeostasis
Time frame: Up to 60 months
Urine Magnesium Homeostasis
Time frame: Up to 60 months
7 secondary outcomes
Blood Creatinine Levels
Time frame: Up to 60 months
Estimated Glomerular Filtration Rate (eGFR)
Time frame: Up to 60 months
Number of Participants With Nephrocalcinosis and Nephrolithiasis as Assessed by Renal Ultrasound
Time frame: Up to 60 months
Bone Mineral Density as Assessed by Dual-Energy X-Ray Absorptiometry (DXA)
Time frame: 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
Time frame: 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
Time frame: Up to 60 months
Number of Participants Receiving One or More ADH1/2 Treatment Regimens
Time frame: Up to 60 months
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 30 Apr 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Calcilytix Medical Director study director
Calcilytix Therapeutics, Inc., a BridgeBio company
27 sites in 13 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Autosomal Dominant Hypocalcemia, run by Calcilytix Therapeutics, Inc., a BridgeBio company at 27 sites in 13 countries.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 5 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 30 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 27 sites in United States, France, Italy, Japan, Australia and 8 more countries. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Blood Calcium Homeostasis (time frame: Up to 60 months). The study lists 8 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 30 Apr 2026.