Response of Individuals With Ataxia-Telangiectasia to Metformin and Pioglitazone
Status:
Completed
Trial end date:
2017-08-30
Target enrollment:
Participant gender:
Summary
This study aims to investigate the link between the Ataxia Telangiectasia Mutated (ATM) gene
and metformin response. This link has been identified from large studies of the human genome,
and this study aims to confirm this link in a clinical study. The ATM gene is involved in DNA
repair - if a person inherits a "faulty" copy of this gene from both their parents, they have
a genetic condition called Ataxia-telangiectasia (A-T).
A-T is associated with, among other things, a resistance to insulin, which causes fatty liver
and diabetes. This study will recruit people who have A-T, but have not developed diabetes,
and compare this group to "healthy" controls, i.e. people who do not have A-T or diabetes.
The study will compare how the groups respond to two drugs used to treat diabetes (metformin
and pioglitazone), with the intention that this will guide the management of diabetes in A-T.
This is an, open label unblinded study recruiting 15 people with A-T and 15 age and gender
matched controls. Each participant will have three study visits to the Clinical Research
Centre at Ninewells hospital in Dundee - one at baseline, a second after 8 weeks of metformin
and the final visit after eight weeks of pioglitazone. During each visit we will carry out a
number of investigations to study the insulin resistance of A-T and how it responds to
metformin and pioglitazone.