Cardiometabolic evaluation in Alström Syndrome
Research type
Research Study
Full title
Deep metabolic phenotyping of Alström Syndrome as a model for cardiometabolic disease
IRAS ID
278885
Contact name
Tarekegn Hiwot
Contact email
Sponsor organisation
University Hospitals Birmingham NHS Foundation Trust
Duration of Study in the UK
2 years, 0 months, 0 days
Research summary
Alström syndrome (AS) is a rare inherited genetic condition that affects both males and females. The condition is characterised by a multi-system involvement causing blindness at early childhood; weight gain and difficulty for the body in handling insulin (insulin resistance or IR) from birth that leads to diabetes and related complications as a youth. Other features of the syndrome include hearing loss, heart failure and long standing kidney disease. The natural history of Alstrom syndrome is still a matter of further research.
Obesity is one of the key risk factors in the development of Insulin resistance and type 2 diabetes. In a previous study, we found that participants with Alström syndrome have extreme Insulin resistance (IR), are prone to diabetes and severe fatty liver disease irrespective of their body weight. We also found that the fat cells in Alström syndrome are filled with inflammation and so fail to handle insulin and store fat properly.
This study aims to redefine the natural history of the syndrome and shed light on the mechanistic insights about the role of fat cells in the development of diabetes and other adverse metabolic complications. Insights generated in this study may potentially lead to novel candidate therapeutic strategies to treat diabetes and fatty liver disease.
REC name
West Midlands - Solihull Research Ethics Committee
REC reference
22/WM/0035
Date of REC Opinion
23 Mar 2022
REC opinion
Further Information Favourable Opinion