Abstract

Mitochondrial disease is a debilitating and often life-threatening condition that affects at least 1 in 5000 people in the UK. Clinical descriptions of the natural history of mitochondrial disease are largely anecdotal and there have been no systematic attempts to study disease progression in a tightly defined patient cohort. The MRC has funded the Mitochondrial Cohort Study, a collaborative project involving the MRC Centre for Neuromuscular Diseases in London and Newcastle. It aims to create a national database of patients with genetically confirmed mitochondrial disease, make detailed clinico-pathological description of phenotype and correlate this with underlying genotype. The data will be crucial in providing accurate prognostic advice to patients and are prerequisite for assessing efficacy of clinical interventions. The cohort will help facilitate phase IIb and phase III drug trials and assessment of novel treatment strategies such as sequential resistance-endurance exercise. It will also provide the opportunity to assess various prevention strategies including those for cardiomyopathy, stroke-like episodes, migraine and epilepsy. The unprecedented access to family data including genotyping will also permit definitive studies on the transmission of mitochondrial DNA mutations and the effects of mitochondrial disease on female fertility and pregnancy.