ADH1 and ADH2 Disease Monitoring Study (DMS)

NCT05227287 | Active Not Recruiting

• 1 other identifier: CLTX-305-901
• Study Type: observational
• Target: 95
• Locations: 13 countries
• Sites: 27

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.

Conditions

Autosomal Dominant Hypocalcemia

Keywords

Autosomal Dominant Hypocalcemia Type 1 (ADH1); Autosomal Dominant Hypocalcemia Type 2 (ADH2); Hypocalcemia; Musculoskeletal Diseases; Muscular Diseases; Musculoskeletal Abnormalities; Calcium Metabolism Disorders; Metabolic Diseases; Hypoparathyroidism; Hypocalcemic Seizures; Hypercalciuria; Nephrocalcinosis; Nephrolithiasis; Calcium Sensing Receptor; CaSR gene; CaSR gene mutation; CaSR mutation; GNA11 gene; GNA11 gene mutation; GNA11 mutation

Outcome Measures

Primary Outcomes (8)

• Blood Calcium Homeostasis

  Up to 60 months

• Phosphorus Homeostasis

  Up to 60 months

• Magnesium Homeostasis

  Up to 60 months

• Intact Parathyroid Hormone (iPTH) Homeostasis

  Up to 60 months

• Mineral Homeostasis as Assessed by 1,25-dihydroxyvitamin D Homeostasis

  Up to 60 months

• Urine Calcium Homeostasis

  Up to 60 months

• Urine Phosphorus Homeostasis

  Up to 60 months

• Urine Magnesium Homeostasis

  Up to 60 months

Secondary Outcomes (7)

• Blood Creatinine Levels

  Up to 60 months

• Estimated Glomerular Filtration Rate (eGFR)

  Up to 60 months

• Number of Participants With Nephrocalcinosis and Nephrolithiasis as Assessed by Renal Ultrasound

  Up to 60 months

• Bone Mineral Density as Assessed by Dual-Energy X-Ray Absorptiometry (DXA)

  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

Study Arms (1)

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.

Eligibility Criteria

• Age: Up to 90 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Calcilytix Therapeutics, Inc., a BridgeBio company: lead

Study Sites (27)

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

Oakland, California, 94609, United States

Location

Children's Hospital Colorado

Aurora, Colorado, 80045, United States

Location

Nemours Children's Clinic

Jacksonville, Florida, 32207, United States

Location

Indiana University (IU) School of Medicine - University Hospital

Indianapolis, Indiana, 46202, United States

Location

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

Location

Mayo Clinic

Rochester, Minnesota, 55902, United States

Location

Physician's East Endocrinology

Greenville, North Carolina, 27834, United States

Location

Cincinnati Children's Hospital Medical Center

Cincinnati, Ohio, 45229, United States

Location

Ohio State University Medical Center (OSUMC)

Columbus, Ohio, 43210, United States

Location

Royal North Shore Hospital

Saint Leonards, New South Wales, 2065, Australia

Location

Universitaire Ziekenhuizen Leuven

Leuven, Flemish Brabant, 3000, Belgium

Location

Bone Research and Education Centre

Oakville, Ontario, L6M 1M1, Canada

Location

Aarhus University Hospital

Aarhus, 8200, Denmark

Location

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

Helsinki, 00290, Finland

Location

HCL Hopital Femme Mere Enfant

Bron, Auvergne-Rhône-Alpes, 69500, France

Location

HCL Hopital Edouard Herriot

Lyon, Auvergne-Rhône-Alpes, 69003, France

Location

CHU de Lille

Lille, 59000, France

Location

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

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

Location

Endokrinologikum Gottingen

Göttingen, 37075, Germany

Location

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano

Milan, Lombardy, 20122, Italy

Location

IRCCS Ospedale San Raffaele

Milan, Lombardy, 20132, Italy

Location

Policlinico Universitario Campus Bio-Medico

Rome, 00128, Italy

Location

Osaka University Hospital

Osaka, 565-0871, Japan

Location

The University of Tokyo Hospital

Tokyo, 113-8655, Japan

Location

Erasmus MC

Rotterdam, 3015 GD, Netherlands

Location

Centro Hospitalar Universitario de Lisboa Norte - Hospital de Santa Maria

Lisbon, 1649-028, Portugal

Location

Royal Manchester Children's Hospital

Manchester, M13 9WL, United Kingdom

Location

MeSH Terms

Conditions

Hypercalciuric Hypocalcemia, Familial; Hypocalcemia; Musculoskeletal Diseases; Muscular Diseases; Musculoskeletal Abnormalities; Calcium Metabolism Disorders; Metabolic Diseases; Hypoparathyroidism; Hypercalciuria; Nephrocalcinosis; Nephrolithiasis

Condition Hierarchy (Ancestors)

Nutritional and Metabolic Diseases; Water-Electrolyte Imbalance; Neuromuscular Diseases; Nervous System Diseases; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Parathyroid Diseases; Endocrine System Diseases; Urological Manifestations; Signs and Symptoms; Pathological Conditions, Signs and Symptoms; Kidney Diseases; Urologic Diseases; Female Urogenital Diseases; Female Urogenital Diseases and Pregnancy Complications; Urogenital Diseases; Male Urogenital Diseases; Calcinosis; Urolithiasis

Study Officials

• Calcilytix Medical Director

  Calcilytix Therapeutics, Inc., a BridgeBio company

  STUDY DIRECTOR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: OTHER
• Sponsor Type: INDUSTRY
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 18, 2022
• First Posted: February 7, 2022
• Study Start: January 20, 2022
• Primary Completion (Estimated): November 1, 2028
• Study Completion (Estimated): December 1, 2028
• Last Updated: April 30, 2026

Record last verified: 2026-04

Data Sharing

• IPD Sharing: Will not share

Locations

DK (1); CA (1); FR (4); NL (1); PT (1); JP (2); GB (1); BE (1); FI (1); DE (1); US (9); IT (3); AU (1)