Biomarker Study

What is this study about?

This is a small study to see if the molecule [11C]PK11195 can be used to diagnose and study the progression of mitochondrial disease.

[11C]PK11195 is a radioactive compound which binds to certain proteins in the mitochondria. This interaction releases a signal that can be detected using a specialised positron emission tomography (PET) scanner. This makes it possible to estimate the amount of mitochondria in different regions of the brain, and compare it to the brains of people who don’t have mitochondrial disease.

Who can take part? 

Patients 18-70 years, male or female, who have mitochondrial disease caused by::

- any mitochondrial DNA mutation

- mutations in the POLG gene (which could include the following conditions: Alpers-Huttenlocher syndrome, Myoclonic epilepsy myopathy sensory ataxia (MEMSA), Ataxia neuropathy spectrum disorders, DNA Polymerase gamma syndrome)

- mutations in the SPG7 gene (which is often associated with Hereditary Spastic Paraplegia and also Progressive External Ophthalmoplegia)

What's involved in taking part?

The study involves one screening visit (which can be carried out at the participant’s home) and one study visit at the Wolfson Brain Imaging Centre in Cambridge. A small amount of [11C]PK11195 will be injected into the participant’s bloodstream, then a combined PET/MRI scan lasting roughly 90 minutes will be carried out. After the scan, the study is complete and the participant is free to go home. The study visit shouldn’t last any longer than 3 hours in total.

All patient travel and accommodation expenses will be reimbursed.

Are there any risks?

The scan involves exposure to a small amount of ionising radiation. The radiation dose involved is similar to the average amount a person in the UK receives each year from background radiation sources, such as cosmic rays and sunlight, and is considered as low risk. [11C]PK11195 has been used in research for more than 15 years, without toxicity or other adverse reactions.

Who will benefit?

There is no direct benefit to you from taking part in this research.  However, knowledge gained from the study may ultimately improve the diagnosis and monitoring of mitochondrial disease.

How do I find out more?

If you think you might be eligible and are interested in taking part in this research, or would like any further information, please contact the study team directly:

Research Nurse: Miss Sarah Bird

Tel: 01223 331506

Email: [email protected]

Study Coordinator: Miss Zoe McIntyre

Tel: 01223 331506

Email: [email protected]