Status: Open to recruitment
Background
The Lily Foundation is the UK’s main patient organization for patients with mitochondrial disease. They are funding this study, which aims to get a genetic diagnosis for families who are thought to have mitochondrial disease but remain without a diagnosis after NHS testing.
Objectives
The study will look at existing data (where it exists) and review this. In some cases more advanced genetic testing will be undertaken (if it is suitable for specific individuals). Not everyone will get a diagnosis via this route but the study team are hopeful that some will.
Research aims
The Lily Precision Diagnostics study has two main aims:
- To use the latest scientific approaches to diagnose individuals with strongly suspected mitochondrial disease who haven’t received a diagnosis through NHS testing.
- To help accelerate the adoption of advanced technologies in the NHS.
Who can take part?
Individuals should meet the following criteria to be eligible to take part in the study:
- Individuals need to have completed all possible NHS testing prior to recruitment.
- Individuals need to have, in the opinion of their consultant, a high likelihood of having primary mitochondrial disease.
- The study is also open to individuals with a ‘variant of uncertain significance’ in a mitochondrial gene.
The study is not suitable for individuals with secondary mitochondrial dysfunction e.g. chronic fatigue. This is because these conditions often involve complex genetic and environmental factors rather than one single genetic change.
What is involved?
We would like to collect clinical and personal information (e.g. demographics, medical records, family history and clinical findings). We will ask for permission to store this data indefinitely and share for approved research. We would also like to extract DNA and RNA from blood and other tissue samples (if applicable) that have previously been collected. Individuals may be required to attend a study visit or complete a telephone consultation with a study doctor.
For more information on this study, please click here.