Summary

Eligibility
for people ages up to 90 years (full criteria)
Location
at Oakland, California and other locations
Dates
study started
estimated completion

Description

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.

Official Title

CLARIFY: Autosomal Dominant Hypocalcemia Types 1 And 2 (ADH1/2) Disease Monitoring Study (DMS)

Details

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.

Keywords

Autosomal Dominant Hypocalcemia, 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, Arthrogryposis

Eligibility

You can join if…

Open to people ages up to 90 years

  1. 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
  2. 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
  3. Be willing to provide access to prior medical records including imaging, biochemical, and diagnostic and medical history data, if available
  4. Be willing and able to comply with the study visit schedule and study procedures

You CAN'T join if...

  1. 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
  2. Enrollment in an ADH1 or ADH2 interventional clinical study at the time of DMS Screening visit or at any point during the DMS

Locations

  • UCSF (UCSF) - Benioff Children's Hospital - Oakland accepting new patients
    Oakland California 94609 United States
  • Children's Hospital Colorado accepting new patients
    Aurora Colorado 80045 United States

Details

Status
accepting new patients
Start Date
Completion Date
(estimated)
Sponsor
Calcilytix Therapeutics, Inc., a BridgeBio company
ID
NCT05227287
Study Type
Observational
Participants
Expecting 60 study participants
Last Updated