Biomarkers of Mitochondrial Disease

• Research type

  Research Study

• Full title

  Biomarkers for Mitochondrial Disease

• IRAS ID

  189858

• Contact name

  Patrick Chinnery

• Contact email

  pfc25@medschl.cam.ac.uk

• Sponsor organisation

  Cambridge University Hospitals NHS Foundation Trust and University of Cambridge

• Clinicaltrials.gov Identifier

  609/M/C/1682, Cambridge University Insurance reference

• Duration of Study in the UK

  1 years, 6 months, 1 days

• Research summary

  The aim of this study is to collect deep phenotypic data (in depth information about how a particular disease or genetic mutation manifests to cause associated symptoms) for patients with a genetically defined mitochondrial disease.

  We aim to achieve this by collecting data and samples samples from participants who have one of the following diseases:

  o Leber’s Hereditary Optic Neuropathy ( due to m.1177A>G, m.14484T>C, or m.3406A>G)
  o Mitochondrial Cytopathy (due to m.3243A>G)
  o Disorders arising due to POLG mutation
  o Disorders arising due to OPA1 mutation
  o Disorders arising due to SPG7 mutation

  Each participant will also have their medical history assessed; be examined using standardised clinical rating scales; complete validated clinical questionnaires; have bloods taken; undergo an MRI and complete a food diary prior to visiting the hospital. Some participants will be asked to provide a muscle biopsy.

  We will also be identifying control participants who will complete a food diary and provide blood samples

• REC name

  London - Fulham Research Ethics Committee

• REC reference

  16/LO/1659

• Date of REC Opinion

  23 Sep 2016

• REC opinion

  Favourable Opinion