Glucose metabolism in patients with autosomal dominant hypocalcaemia
Research type
Research Study
Full title
Characterisation of glucose metabolism in patients with autosomal dominant hypocalcaemia (ADH)
IRAS ID
269085
Contact name
Rajesh Thakker
Contact email
Sponsor organisation
University of Oxford / Clinical Trials Research Governance
Duration of Study in the UK
2 years, 11 months, 28 days
Research summary
Background:
Autosomal dominant hypocalcaemia (ADH) is an inherited disorder and leads to low calcium concentrations in the blood (hypocalcaemia). There are two types of ADH: type 1 is caused by mutations in the calcium-sensing receptor (CASR) gene; whereas ADH type 2 is caused by mutations of the G-protein subunit alpha-11 (GNA11) gene. Genes are made up of DNA and some encode instructions to make proteins or receptors. It is known that CASR and GNA11 genes contain instructions to make proteins that control blood calcium levels, however these proteins are also found in other parts of the body including parts of the pancreas (islet cells) which release hormones (chemicals) to control blood glucose levels in the blood. Mice with a mutation of the CASR gene have been shown to have impaired glucose tolerance, a form of pre-diabetes, and abnormally low levels of insulin in their blood.Objective:
To determine whether human ADH patients have alterations in glucose metabolism by measuring glucose tolerance, blood insulin concentrations and body fat composition in patients with ADH1 and ADH2.Subjects:
Patients with ADH1 or ADH2 will be recruited to this study and healthy control participants matched for age, sex and body mass index with each ADH patient.Study site:
These studies will be undertaken at the Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM). Biochemical parameters will be measured at the Dept of Clinical Biochemistry, John Radcliffe Hospital, Oxford.Study procedures:
Subjects will attend OCDEM after an overnight fast, and be given a 75g glucose drink. Blood samples will be obtained initially and following glucose ingestion over a 2-hour period for measurement of glucose and calcium regulation hormones. Subjects will then undergo a low dose X-ray scan to assess body fat composition. All participants will have basic anthropometric data collected including weight, height and waist circumference.REC name
London - Queen Square Research Ethics Committee
REC reference
20/LO/0990
Date of REC Opinion
8 Oct 2020
REC opinion
Further Information Favourable Opinion