Sponsor: Calcilytix Therapeutics, Inc., a BridgeBio company
trial.available_in:
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Overview
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.
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.
Who can participate
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.
Locations
12
Australia (1)
Royal North Shore Hospital
Saint Leonards , New South Wales
Belgium (1)
Universitaire Ziekenhuizen Leuven
Leuven , Flemish Brabant
Canada (1)
Bone Research and Education Centre
Oakville , Ontario
Denmark (1)
Aarhus University Hospital
Aarhus
Finland (1)
Helsinki University Hospital (HUS) - The New Children's Hospital
Helsinki
France (1)
HCL Hopital Femme Mere Enfant
Bron , Auvergne-Rhône-Alpes
Italy (1)
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano
Milan , Lombardy
Japan (1)
Osaka University Hospital
Osaka
Netherlands (1)
Erasmus MC
Rotterdam
Portugal (1)
Centro Hospitalar Universitario de Lisboa Norte - Hospital de Santa Maria
Lisbon
United Kingdom (1)
Royal Manchester Children's Hospital
Manchester
United States (1)
University of California, San Francisco (UCSF) - Benioff Children's Hospital - Oakland