ADH1 and ADH2 Disease Monitoring Study (DMS)

NCT ID: NCT05227287

Last Updated: 2025-04-04

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

ACTIVE_NOT_RECRUITING

Total Enrollment

95 participants

Study Classification

OBSERVATIONAL

Study Start Date

2022-01-20

Study Completion Date

2028-12-31

Brief Summary

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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

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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

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Autosomal Dominant Hypocalcemia

Study Design

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Observational Model Type

COHORT

Study Time Perspective

OTHER

Study Groups

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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.

No interventions assigned to this group

Eligibility Criteria

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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

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
Maximum Eligible Age

90 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Calcilytix Therapeutics, Inc., a BridgeBio company

INDUSTRY

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Calcilytix Medical Director

Role: STUDY_DIRECTOR

Calcilytix Therapeutics, Inc., a BridgeBio company

Locations

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

Oakland, California, United States

Site Status

Children's Hospital Colorado

Aurora, Colorado, United States

Site Status

Nemours Children's Clinic

Jacksonville, Florida, United States

Site Status

Indiana University (IU) School of Medicine - University Hospital

Indianapolis, Indiana, United States

Site Status

Boston Children's Hospital

Boston, Massachusetts, United States

Site Status

Mayo Clinic

Rochester, Minnesota, United States

Site Status

Physician's East Endocrinology

Greenville, North Carolina, United States

Site Status

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, United States

Site Status

Ohio State University Medical Center (OSUMC)

Columbus, Ohio, United States

Site Status

Royal North Shore Hospital

Saint Leonards, New South Wales, Australia

Site Status

Universitaire Ziekenhuizen Leuven

Leuven, Flemish Brabant, Belgium

Site Status

Bone Research and Education Centre

Oakville, Ontario, Canada

Site Status

Aarhus University Hospital

Aarhus, , Denmark

Site Status

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

Helsinki, , Finland

Site Status

HCL Hopital Femme Mere Enfant

Bron, Auvergne-Rhône-Alpes, France

Site Status

HCL Hopital Edouard Herriot

Lyon, Auvergne-Rhône-Alpes, France

Site Status

CHU de Lille

Lille, , France

Site Status

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

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

Site Status

Endokrinologikum Gottingen

Göttingen, , Germany

Site Status

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano

Milan, Lombardy, Italy

Site Status

IRCCS Ospedale San Raffaele

Milan, Lombardy, Italy

Site Status

Policlinico Universitario Campus Bio-Medico

Rome, , Italy

Site Status

Osaka University Hospital

Osaka, , Japan

Site Status

The University of Tokyo Hospital

Tokyo, , Japan

Site Status

Erasmus MC

Rotterdam, , Netherlands

Site Status

Centro Hospitalar Universitario de Lisboa Norte - Hospital de Santa Maria

Lisbon, , Portugal

Site Status

Royal Manchester Children's Hospital

Manchester, , United Kingdom

Site Status

Countries

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United States Australia Belgium Canada Denmark Finland France Germany Italy Japan Netherlands Portugal United Kingdom

Other Identifiers

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CLTX-305-901

Identifier Type: -

Identifier Source: org_study_id

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