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New study monitors rare calcium disorder to better understand its long-term effects

NCT ID NCT05227287

Knowledge-focused Sponsor: Calcilytix Therapeutics, Inc., a BridgeBio company Source: ClinicalTrials.gov ↗

What the study statuses mean

This study's is highlighted.

Recruitment status, easiest to join first

Recruiting now
This trial is taking on new participants right now.
Not yet recruiting
Registered, but not yet taking participants.
By invitation only
Not open to general applications. Only people the study team invites can take part.
Paused
Paused for now. It may or may not start again.
Ongoing This study
Running, but no longer taking on new participants.
Completed
The trial has finished. Results may not be published yet.
Stopped early
Stopped early, before it reached the end. That can be for many reasons, including safety.
Cancelled
Cancelled before anyone took part.

Expanded access (not trials)

Expanded access
Not a trial. This treatment can be requested outside a study, case by case, for people who qualify.
Expanded access (paused)
Not a trial. The treatment can normally be requested outside a study, but is unavailable right now.
Expanded access (ended)
Not a trial. The treatment could once be requested outside a study, but no longer can.
Approved
The treatment has been approved, so it is available normally rather than through this programme.

When the status isn't known

Details not published
The full record has not been published yet, so there is little to show here.
Status unknown
This status has not been confirmed recently, so it may be out of date.

First seen Jun 27, 2026 · Last updated Jun 27, 2026

Summary

This study is for people with autosomal dominant hypocalcemia types 1 or 2, rare genetic conditions that cause low blood calcium. Researchers will collect past and future health data from 95 participants to learn how the disease changes over time. The goal is to better understand the condition, not to test a treatment.

This is an AI summary of the original study and may miss details. Read our disclaimer.

Study facts

What this study's own registry entry says, in plain language.

Participants

95 people

The number who actually took part.

Started

Jan 2022

Expected to finish

Dec 2028

An estimate. End dates often move.

Lead sponsor

A company

The lead sponsor is a pharmaceutical, biotech, or medical-device company.

Who can take part

This study's own entry requirements. Only the study team can say for certain whether you qualify.

Who is studied

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.

Ages

Up to 90 years

Sex

Anyone

Healthy volunteers

Not accepted

This study is not open to healthy volunteers. The entry requirements below say who it is open to.

Show the full entry requirements

Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.

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.

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Conditions

The condition(s) this trial relates to.

autosomal dominant hypocalcemia autosomal dominant hypocalcemia 1 autosomal dominant hypocalcemia 2 calcium metabolic disease Hypercalciuria Hypercalciuric Hypocalcemia, Familial Hypocalcemia hypoparathyroidism metabolic disease muscle tissue disorder Musculoskeletal Abnormalities musculoskeletal system disorder nephrocalcinosis nephrolithiasis

As listed by the trial registrant

The condition terms exactly as the trial's registrant entered them.

Autosomal dominant hypocalcemia

Contacts and locations

Locations

  • Aarhus University Hospital

    Aarhus, 8200, Denmark

  • Bone Research and Education Centre

    Oakville, Ontario, L6M 1M1, Canada

  • Boston Children's Hospital

    Boston, Massachusetts, 02115, United States

  • CHU de Lille

    Lille, 59000, France

  • Centro Hospitalar Universitario de Lisboa Norte - Hospital de Santa Maria

    Lisbon, 1649-028, Portugal

  • Children's Hospital Colorado

    Aurora, Colorado, 80045, United States

  • Cincinnati Children's Hospital Medical Center

    Cincinnati, Ohio, 45229, United States

  • Departement d'Endocrinologie et Diabetes pour Enfants - AP-HP Hopital Bicetre

    Le Kremlin-Bicêtre, Île-de-France Region, 94270, France

  • Endokrinologikum Gottingen

    Göttingen, 37075, Germany

  • Erasmus MC

    Rotterdam, 3015 GD, Netherlands

  • Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano

    Milan, Lombardy, 20122, Italy

  • HCL Hopital Edouard Herriot

    Lyon, Auvergne-Rhône-Alpes, 69003, France

  • HCL Hopital Femme Mere Enfant

    Bron, Auvergne-Rhône-Alpes, 69500, France

  • Helsinki University Hospital (HUS) - The New Children's Hospital

    Helsinki, 00290, Finland

  • IRCCS Ospedale San Raffaele

    Milan, Lombardy, 20132, Italy

  • Indiana University (IU) School of Medicine - University Hospital

    Indianapolis, Indiana, 46202, United States

  • Mayo Clinic

    Rochester, Minnesota, 55902, United States

  • Nemours Children's Clinic

    Jacksonville, Florida, 32207, United States

  • Ohio State University Medical Center (OSUMC)

    Columbus, Ohio, 43210, United States

  • Osaka University Hospital

    Osaka, 565-0871, Japan

  • Physician's East Endocrinology

    Greenville, North Carolina, 27834, United States

  • Policlinico Universitario Campus Bio-Medico

    Rome, 00128, Italy

  • Royal Manchester Children's Hospital

    Manchester, M13 9WL, United Kingdom

  • Royal North Shore Hospital

    Saint Leonards, New South Wales, 2065, Australia

  • The University of Tokyo Hospital

    Tokyo, 113-8655, Japan

  • Universitaire Ziekenhuizen Leuven

    Leuven, Flemish Brabant, 3000, Belgium

  • University of California, San Francisco (UCSF) - Benioff Children's Hospital - Oakland

    Oakland, California, 94609, United States

More trials for these conditions

Other studies related to the condition(s) this trial covers.