What is this study about?
Some scientists think that increasing the number of mitochondria in your body (mitochondrial biogenesis) might be an effective treatment for the symptoms of mitochondrial disease. Studies carried out in mice have shown that a type of B-vitamin called Nicotinamide Riboside (NR) is able to increase the number of mitochondria, leading to increased energy and a reduction in the symptoms of mitochondrial disease.
The aim of this study is to investigate if the same B vitamin, Nicotinamide Riboside, can increase energy production and reduce symptoms in humans with mitochondrial disease.
Who can take part?
Patients aged 18-70 years, male or female, with a clinical and genetic diagnosis of:
1. Progressive external ophthalmoplegia (PEO) caused by a single deletion of mitochondrial DNA
2. Mitochondrial disease caused by the m.3243A>G or m.3243A>T mutation in mitochondrial DNA
There are certain circumstances where some people might not able to participate in this study, so the research team will carry out a thorough screening check to make sure patients are eligible.
What's involved in taking part?
The study will consist of two parts:
Part 1: Participants will be given a single oral dose of Nicotinamide Riboside and the levels of NR in their bloodstream will be measured at regular intervals. This will involve a single overnight stay and simple blood tests. THIS PART OF THE TRIAL HAS BEEN COMPLETED.
Part 2: This requires 6 separate visits from each participant. A series of standard tests will be carried out including a muscle biopsy and an MRI scan, then participants will be asked to take a course of Nicotinamide Riboside (twice daily for 4 weeks). After 4 weeks of treatment the same tests will be repeated to see if there have been any changes in response to the treatment. THIS PART OF THE TRIAL IS ACTIVELY RECRUITING.
All patient travel and accommodation expenses will be reimbursed.
Are there any risks?
The study involves a series of standard clinical tests that are routinely carried out in clinical practice. This includes muscle biopsies, blood samples, and two MRI scans. Muscle biopsies are often used to diagnose mitochondrial disease and you may well have had one before. We will give you a local anaesthetic injection which can cause some stinging pain, and if you feel any pain during the rest of the procedures we will give additional anaesthetic, or abandon the procedure if you’d prefer us to stop. There is a risk of bruising and bleeding and you will feel sore around the site for a few days. Taking blood samples may cause some discomfort or bruising, and can cause some people to faint. Some people may find having the MRI scan claustrophobic and they can be noisy, but you will be in voice contact with the team at all times in case you feel uncomfortable.
Nicotinamide Riboside is a modified B vitamin/heath supplement, which does not need a prescription from your doctor. While there are no side effects that we know about, there is no guarantee that there are not side effects associated with taking the supplement.
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 treatment of mitochondrial disease.
How do I find out more?
Study Coordinator: Heather Biggs
Tel: 01223 331506
Email: [email protected]