Status: Closed to recruitment. In analysis.
Background
Mitochondria are important parts of the cell that are responsible for producing energy. The amount of energy they produce can be severely impaired in people with mitochondrial disease. Symptoms of mitochondrial disease vary widely but usually involve the brain, nerves and muscles, as these are tissues that need a lot of energy.
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.
Objectives
The aim of this study is to investigate if the same B vitamin, Nicotinamide Riboside (NR) can increase energy production and reduce symptoms in humans with mitochondrial disease.
Who can take part?
Individuals (aged 18-70 years old) with a clinical or genetic diagnosis of:
- Progressive external ophthalmoplegia (PEO) caused by a single deletion of mitochondrial DNA
- Mitochondrial disease caused by m.3243A>G or m.3243A>T mutation in mitochondrial DNA (MELAS)
What is involved?
Participants will be asked to take the supplement Nicotinamide Riboside in tablet form for a period of 4 weeks. We will ask participants to visit Addenbrooke’s hospital once a week (x6 visits in total) so that we can monitor their progress.
- Screening visit: The screening visit allows us to confirm participants’ eligibility to take part in the study.
- Visits 1 and 5: These visits will involve completing questionnaires, physical examinations, an MRI scan, a muscle biopsy, pregnancy test (if applicable) and providing blood samples.
- Visits 2, 3 and 4: Participants will be required to attend weekly visits whilst taking the supplement Nicotinamide Riboside to allow us to check their muscle biopsy site and monitor their blood and urine.