Autosomal Dominant Hypocalcemia Types 1/2 Disease Monitoring Study
Research type
Research Study
Full title
Autosomal Dominant Hypocalcemia Types 1 And 2 (ADH1/2) Disease Monitoring Study (DMS)
IRAS ID
311730
Contact name
Raja Padidela
Contact email
Sponsor organisation
Calcilytix Therapeutics, Inc.
Clinicaltrials.gov Identifier
Duration of Study in the UK
5 years, 0 months, 0 days
Research summary
Autosomal Dominant Hypocalcaemia type 1 (ADH1) and type 2 (ADH2) are rare disorders which affect the calcium levels in the body. This disease is caused by the activation of variants of the CASR gene and GNA11 gene for ADH1 and ADH2, respectively. Both of these gene variants lead to low levels of calcium in the blood (hypocalcaemia). At present the disease is managed by balancing supplementation of calcium and active vitamin D with the known risk for calcifications, kidney stones and kidney failure. Thus study of this disease is expected to give researchers new information so that better treatment/disease management regimens may be developed in the future.
This study, CLTX-305-901, sponsored by Calcilytix Therapeutics, Inc., is a global, multicentre, retrospective and prospective, non-interventional study to characterise disease presentation and progression in participants, with Autosomal Dominant Hypocalcaemia Types 1 and 2 (ADH1/2) by collecting demographic, biochemical, physiologic, disease severity and disease progression data. Participants will continue to receive standard of care treatment as directed by their treatment doctor/team, whilst participating in this study. No treatment will be provided to the participants by the Sponsor or the site's study team as part of the study.
Participants from birth through to age 90 years who have a documented variant of the CASR or GNA11 gene will be eligible for enrolment, should they meet all the inclusion criteria and not meet any of the exclusion criteria. The study is expected to last approximately 5 years/60 months with participants undertaking physical examinations, completing questionnaires, blood collection/testing, genetic testing, electrocardiograms, 24-hour urine collections and imaging; such as DXA and CT scans and Kidney Ultrasounds.
REC name
West Midlands - Solihull Research Ethics Committee
REC reference
22/WM/0109
Date of REC Opinion
20 Jun 2022
REC opinion
Further Information Favourable Opinion