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Clinical Trials in the UK / NCT05227287
Active, not recruiting Observational

ADH1 and ADH2 Disease Monitoring Study (DMS)

NCT05227287 · tracked via the Priya Life Science UK tracker
Sponsor
Calcilytix Therapeutics, Inc., a BridgeBio company
Phase
Observational
Started
2022-01-20
Last updated
2026-04-30

Condition(s) studied

Autosomal Dominant Hypocalcemia

Study 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 into the future) data collection.

Eligibility

Sex
ALL
Min age
Max age
90 Years
Healthy volunteers
No
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.

Primary outcome measure(s)

Trial sites (27)

FacilityCityRegionStatus
University of California, San Francisco (UCSF) - Benioff Children's Hospital - Oakland Oakland California
Children's Hospital Colorado Aurora Colorado
Nemours Children's Clinic Jacksonville Florida
Indiana University (IU) School of Medicine - University Hospital Indianapolis Indiana
Boston Children's Hospital Boston Massachusetts
Mayo Clinic Rochester Minnesota
Physician's East Endocrinology Greenville North Carolina
Cincinnati Children's Hospital Medical Center Cincinnati Ohio
Ohio State University Medical Center (OSUMC) Columbus Ohio
Royal North Shore Hospital Saint Leonards New South Wales
Universitaire Ziekenhuizen Leuven Leuven Flemish Brabant
Bone Research and Education Centre Oakville Ontario
Aarhus University Hospital Aarhus Denmark
Helsinki University Hospital (HUS) - The New Children's Hospital Helsinki Finland
HCL Hopital Femme Mere Enfant Bron Auvergne-Rhône-Alpes
HCL Hopital Edouard Herriot Lyon Auvergne-Rhône-Alpes
CHU de Lille Lille France
Departement d'Endocrinologie et Diabetes pour Enfants - AP-HP Hopital Bicetre Le Kremlin-Bicêtre Île-de-France Region
Endokrinologikum Gottingen Göttingen Germany
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano Milan Lombardy
IRCCS Ospedale San Raffaele Milan Lombardy
Policlinico Universitario Campus Bio-Medico Rome Italy
Osaka University Hospital Osaka Japan
The University of Tokyo Hospital Tokyo Japan
Erasmus MC Rotterdam Netherlands
Centro Hospitalar Universitario de Lisboa Norte - Hospital de Santa Maria Lisbon Portugal
Royal Manchester Children's Hospital Manchester United Kingdom

More Calcilytix Therapeutics, Inc., a BridgeBio company trials in the UK

Official registry record

This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.

View NCT05227287 on ClinicalTrials.gov ↗ ← All trials in the UK