ADH1 and ADH2 Disease Monitoring Study (DMS)
- Conditions
- Autosomal Dominant Hypocalcemia
- Registration Number
- NCT05227287
- Lead Sponsor
- Calcilytix Therapeutics, Inc., a BridgeBio company
- Brief 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.
- 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.
Recruitment & Eligibility
- Status
- ACTIVE_NOT_RECRUITING
- Sex
- All
- Target Recruitment
- 95
- 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
- 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.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method Urine Magnesium Homeostasis Up to 60 months Phosphorus Homeostasis Up to 60 months Urine Phosphorus Homeostasis Up to 60 months Blood Calcium Homeostasis Up to 60 months Magnesium Homeostasis Up to 60 months Mineral Homeostasis as Assessed by 1,25-dihydroxyvitamin D Homeostasis Up to 60 months Intact Parathyroid Hormone (iPTH) Homeostasis Up to 60 months Urine Calcium Homeostasis Up to 60 months
- Secondary Outcome Measures
Name Time Method Blood Creatinine Levels Up to 60 months Estimated Glomerular Filtration Rate (eGFR) Up to 60 months Bone Mineral Density as Assessed by Dual-Energy X-Ray Absorptiometry (DXA) Up to 60 months Number of Participants With Nephrocalcinosis and Nephrolithiasis as Assessed by Renal Ultrasound 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 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 Up to 60 months Number of Participants Receiving One or More ADH1/2 Treatment Regimens Up to 60 months
Trial Locations
- Locations (27)
University of California, San Francisco (UCSF) - Benioff Children's Hospital - Oakland
🇺🇸Oakland, California, United States
Children's Hospital Colorado
🇺🇸Aurora, Colorado, United States
Nemours Children's Clinic
🇺🇸Jacksonville, Florida, United States
Indiana University (IU) School of Medicine - University Hospital
🇺🇸Indianapolis, Indiana, United States
Boston Children's Hospital
🇺🇸Boston, Massachusetts, United States
Mayo Clinic
🇺🇸Rochester, Minnesota, United States
Physician's East Endocrinology
🇺🇸Greenville, North Carolina, United States
Cincinnati Children's Hospital Medical Center
🇺🇸Cincinnati, Ohio, United States
Ohio State University Medical Center (OSUMC)
🇺🇸Columbus, Ohio, United States
Royal North Shore Hospital
🇦🇺Saint Leonards, New South Wales, Australia
Universitaire Ziekenhuizen Leuven
🇧🇪Leuven, Flemish Brabant, Belgium
Bone Research and Education Centre
🇨🇦Oakville, Ontario, Canada
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, France
HCL Hopital Edouard Herriot
🇫🇷Lyon, Auvergne-Rhône-Alpes, France
CHU de Lille
🇫🇷Lille, France
Departement d'Endocrinologie et Diabetes pour Enfants - AP-HP Hopital Bicetre
🇫🇷Le Kremlin-Bicêtre, Île-de-France, France
Endokrinologikum Gottingen
🇩🇪Göttingen, Germany
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano
🇮🇹Milano, Lombardy, Italy
IRCCS Ospedale San Raffaele
🇮🇹Milano, Lombardy, Italy
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