Clinical trial NCT05227287: ADH1 and ADH2 Disease Monitoring Study (DMS)
Official title: Autosomal Dominant Hypocalcemia Types 1 And 2 (ADH1/2) Disease Monitoring Study (DMS)
Study type: OBSERVATIONAL
Overall status: ACTIVE_NOT_RECRUITING
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
Lead sponsor: Calcilytix Therapeutics, Inc., a BridgeBio company
Sponsor class: INDUSTRY
First posted: 2022-02-07
Enrollment: 95
Sex: ALL
Maximum age (years): 90
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: OTHER
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.

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.

Eligibility criteria: 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 outcomes:
measure: Blood Calcium Homeostasis
timeFrame: Up to 60 months
measure: Phosphorus Homeostasis
timeFrame: Up to 60 months
measure: Magnesium Homeostasis
timeFrame: Up to 60 months
measure: Intact Parathyroid Hormone (iPTH) Homeostasis
timeFrame: Up to 60 months
measure: Mineral Homeostasis as Assessed by 1,25-dihydroxyvitamin D Homeostasis
timeFrame: Up to 60 months
measure: Urine Calcium Homeostasis
timeFrame: Up to 60 months
measure: Urine Phosphorus Homeostasis
timeFrame: Up to 60 months
measure: Urine Magnesium Homeostasis
timeFrame: Up to 60 months
Secondary outcomes:
measure: Blood Creatinine Levels
timeFrame: Up to 60 months
measure: Estimated Glomerular Filtration Rate (eGFR)
timeFrame: Up to 60 months
measure: Number of Participants With Nephrocalcinosis and Nephrolithiasis as Assessed by Renal Ultrasound
timeFrame: Up to 60 months
measure: Bone Mineral Density as Assessed by Dual-Energy X-Ray Absorptiometry (DXA)
timeFrame: Up to 60 months
measure: Change from Baseline in 36-Item Short Form Health Survey (SF-36v2) Physical Component Score and Mental Component Score in Participants ≥ 16 years
timeFrame: Up to 60 months
measure: Change from Baseline in 10-Item Short-Form 10 Healthy Survey for Children (SF-10) Score in participants ≥ 6 years and <16 years
timeFrame: Up to 60 months
measure: Number of Participants Receiving One or More ADH1/2 Treatment Regimens
timeFrame: Up to 60 months
Other outcomes:
Locations:
city: Oakland
country: United States
facility: University of California, San Francisco (UCSF) - Benioff Children's Hospital - Oakland
state: California
city: Aurora
country: United States
facility: Children's Hospital Colorado
state: Colorado
city: Jacksonville
country: United States
facility: Nemours Children's Clinic
state: Florida
city: Indianapolis
country: United States
facility: Indiana University (IU) School of Medicine - University Hospital
state: Indiana
city: Boston
country: United States
facility: Boston Children's Hospital
state: Massachusetts
city: Rochester
country: United States
facility: Mayo Clinic
state: Minnesota
city: Greenville
country: United States
facility: Physician's East Endocrinology
state: North Carolina
city: Cincinnati
country: United States
facility: Cincinnati Children's Hospital Medical Center
state: Ohio
city: Columbus
country: United States
facility: Ohio State University Medical Center (OSUMC)
state: Ohio
city: Saint Leonards
country: Australia
facility: Royal North Shore Hospital
state: New South Wales
city: Leuven
country: Belgium
facility: Universitaire Ziekenhuizen Leuven
state: Flemish Brabant
city: Oakville
country: Canada
facility: Bone Research and Education Centre
state: Ontario
city: Aarhus
country: Denmark
facility: Aarhus University Hospital
city: Helsinki
country: Finland
facility: Helsinki University Hospital (HUS) - The New Children's Hospital
city: Bron
country: France
facility: HCL Hopital Femme Mere Enfant
state: Auvergne-Rhône-Alpes
city: Lyon
country: France
facility: HCL Hopital Edouard Herriot
state: Auvergne-Rhône-Alpes
city: Lille
country: France
facility: CHU de Lille
city: Le Kremlin-Bicêtre
country: France
facility: Departement d'Endocrinologie et Diabetes pour Enfants - AP-HP Hopital Bicetre
state: Île-de-France
city: Göttingen
country: Germany
facility: Endokrinologikum Gottingen
city: Milano
country: Italy
facility: Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico di Milano
state: Lombardy
city: Milano
country: Italy
facility: IRCCS Ospedale San Raffaele
state: Lombardy
city: Rome
country: Italy
facility: Policlinico Universitario Campus Bio-Medico
city: Osaka
country: Japan
facility: Osaka University Hospital
city: Tokyo
country: Japan
facility: The University of Tokyo Hospital
city: Rotterdam
country: Netherlands
facility: Erasmus MC
city: Lisbon
country: Portugal
facility: Centro Hospitalar Universitario de Lisboa Norte - Hospital de Santa Maria
city: Manchester
country: United Kingdom
facility: Royal Manchester Children's Hospital
Study officials:
affiliation: Calcilytix Therapeutics, Inc., a BridgeBio company
name: Calcilytix Medical Director
role: STUDY_DIRECTOR
References: