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MRC Centre Mitochondrial Disease Patient Cohort: A NaturalHistory Study and Patient Registry

SponsorNewcastle Upon Tyne NHS Foundation Trust
FunderMRC
CIDr R McFarland, MG Hanna, DM Turnbull
SitesNewcastle, London Queen Square
Contact detailsjulia.maddison@ncl.ac.uk ; yi.ng@ncl.ac.uk
More information 

Background

There is no effective treatment for Mitochondrial disease. The prevalence of the disease is 9.2/1000000. But the extremely diverse phenotypic presentation of mitochondrial disease has limited cohort development with genetically / biochemically confirmed patients.

To gain better results from phase III clinical trials, we developed the Mito Cohort Patient Database (funded by the MRC). 

Study information

The cohort includes:

  • symptomatic children and adults (including adults lacking capacity) with
  • confirmed mitochondrial disease phenotype
  • biochemical deficiency
  • and/or genetic mutation
  • asymptomatic individuals who have requested genotyping and proved positive.

The Mito Cohort recruits patients on a national level with sites throughout the UK. Data collected can be accessed by applying to the Mitochondrial Disease Oversight Committee.

This committee includes an ethicist and patient representative. If approved, anonymised data is released via the team's research associate or research nurse.