Wellcome Centre for Mitochondrial Research Patient Cohort: A Natural History Study and Patient Registry

Research summary

The MitoCohort comprises symptomatic adults and children, in whom a mitochondrial disease phenotype and biochemical deficiency and/or genetic mutation have been confirmed. Asymptomatic individuals who have requested genotyping and proved positive are also included. Genotyping is important because the same mitochondrial phenotype may be caused by several distinct mutations in either the mitochondrial or nuclear genomes. Phenotypes are characterised in all individuals (symptomatic and asymptomatic) on the basis of clinical history, clinical examinations and detailed investigations. The cohort forms a key part of the MRC Centre for Translational Research in Neuromuscular Disease. The MitoCohort was approved by Trent Research Ethics Committee on the 22th Januray 2009. Since then 16 UK sites and 7 Scottish sites have gained approval (R and D and Caldicott where appropriate) to consent patients to the MitoCohort. The British Neurology Surveillance Unit and British Paediatric Neurology Surveillance Unit were utilised in the past (no longer required going further) to identify patients not under active follow up at one of the three Mitocohondrial centres (Newcastle, London and Oxford).

Principal Investigator

Dr Victoria Nesbitt

Contact us

Email: mary.quirke@ouh.nhs.uk

IRAS number

122433