MitoCohort
Research type
Research Study
Full title
MRC Centre Mitochondrial Disease Patient Cohort: A Natural History Study and Patient Registry
IRAS ID
122433
Contact name
Robert McFarland
Contact email
Sponsor organisation
The Newcastle upon Tyne Hospitals NHS Foundation Trust
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).
REC name
North East - Newcastle & North Tyneside 2 Research Ethics Committee
REC reference
13/NE/0326
Date of REC Opinion
23 Dec 2013
REC opinion
Further Information Favourable Opinion