Using Pharmacogenetics to Improve Treatment in Early-onset Diabetes
试验速览
- 阶段
- 不适用
- 状态
- 已完成
- 入组人数
- 1,916
- 试验地点
- 3
- 主要终点
- Identification of patients with monogenic diabetes
研究概览
简要总结
Monogenic diabetes is an unusual form of diabetes. It usually presents in patients under the age of 30, so is often misdiagnosed as Type 1 diabetes which is more common. Patients with monogenic diabetes can often be treated with tablets rather than insulin injections, leading to better control of their diabetes, and fewer side-effects and complications. Less than 5% of people with monogenic diabetes in the UK have been identified, meaning up to 20,000 patients may still be misdiagnosed and receiving inappropriate treatment. We want to identify the best way of ensuring that people diagnosed with diabetes under the age of 30 have all the necessary tests to ensure they have the correct treatment for their particular type of diabetes. A small number of people may, as part of this study, be found to have a specific genetic cause of their diabetes and in these cases we will measure the success and benefits of changing their treatment, usually from insulin injections to sulphonylurea tablets.
详细描述
Aim:The aim of this project is to identify a patient pathway which ensures that patients with young-onset diabetes (diagnosed <30 years) have a systematic series of investigations which allow for appropriate genetic testing and hence appropriate alteration of therapy if required.
Objectives:
- To establish and test a care pathway to detect monogenic diabetes in patients with diabetes diagnosed before the age of 30 years and currently under the age of 50 years. This will indicate the prevalence of monogenic diabetes.
- To measure the success, cost and potential economic benefit of changing the treatment of those patients identified with monogenic diabetes from their initial therapy, typically insulin injections, to appropriate treatment, usually oral sulphonylureas.
- To obtain the necessary data to enable the development of an appropriate health economic model.
This project will provide evidence for a cost-based model for a systematic care pathway for the diagnosis and treatment of diabetes diagnosed < 30 years. The pathway will select subjects by clinical, biochemical (urinary C peptide) and immunological (pancreatic autoantibodies) criteria for genetic testing. The present approach relies on clinicians recognising the possibility of a monogenic cause and arranging genetic testing. In the UK less than 5% of the estimated cases of monogenic diabetes have been identified and this means that up to 20,000 diabetic patients are receiving inappropriate treatment. Patients confirmed by molecular genetic testing to have monogenic diabetes may benefit from changing from insulin and other therapies, to treatment with sulphonylurea tablets or diet alone. Systematic targeted use of molecular genetic testing in young-onset diabetes will result in stratified treatment according to aetiology with improved efficacy, quality of life and long term complication risk, while reducing side effects and cost.
This project aims to develop a pathway of testing in patients diagnosed under the age of 30 years, to identify those who should receive genetic testing. This will consist of three stages: 1) a urine test that can determine if a patient is making their own insulin; 2) for those who are making their own insulin, a further blood test will be carried out testing for antibodies which are seen in Type 1 diabetes; 3) in those who are negative for the antibodies, a genetic test will be carried out to determine whether they have monogenic diabetes. Individuals who are found to have monogenic diabetes may have their treatment changed.
研究设计
- 研究类型
- Observational
- 观察模型
- Other
- 时间视角
- Cross Sectional
入排标准
- 年龄范围
- — 至 50 Years（Child, Adult）
- 性别
- All
- 接受健康志愿者
- 否
入选标准
- •clinical diagnosis of diabetes
- •diagnosed under 30 years of ages
- •current age less than 50 years
- •willing and able to provide informed consent.
排除标准
- •age over 50 years
- •age at diagnosis over 30 years
- •adult with incapacity to consent
- •child with incapacity to assent
结局指标
主要结局
Identification of patients with monogenic diabetes
时间窗: Within 4 years from start of project
The aim of this project is to identify the prevalence of patients with monogenic diabetes resulting from mutations in the HNF1A/HNF4A/GCK genes, amongst patients with early-onset diabetes, diagnosed less than 30 years.
次要结局
- To examine the impact of making a diagnosis of monogenic diabetes on patients' treatment, glucose control and quality of life.(Within 4 years of the project start date.)
- To develop a health economic model of the care pathway leading to testing of monogenic diabetes.(Within 4 years of the project start date.)