What is this trial about?

A genetic diagnosis of mitochondrial disease can be life-changing, guiding patient care, supporting family planning options (e.g. specialised IVF) and, in some cases, opening doors to drug trials.

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.

Using the latest DNA sequencing and innovative computer technologies and, when relevant, advanced ‘omic’ technologies like RNA and protein analysis, this project is pushing the boundaries of genetic diagnosis. 

Who can take part?

Participants should meet the following criteria:

• They need to have completed all possible NHS testing prior to recruitment.
• They 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 people 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.

Are there any risks or burdens?

We do not anticipate significant risk and the study does not involve any specific clinic visits. Whilst we hope to provide answers to all participants, it’s unlikely that everyone will receive a confirmed diagnosis, which we realise could be disappointing. No additional procedures (such as blood tests, skin or muscle biopsies) outside of regular clinical care are expected.

Patients must consent to allow the study team access to their medical records and data sharing with approved third parties.

Who will benefit?

We aim to provide diagnoses for some individuals and families, potentially bringing clarity and direction to their mito journey.

How do I find out more?

Please speak to your clinician in the first instance for a referral. If you have any problems getting referred onto the project, please contact [email protected].