Queen Square Centre for Neuromuscular Diseases


Incidence of complications of pregnancy in patients diagnosed with mitochondrial disease or carrying a mitochondrial DNA mutation

Sponsor Newcastle Upon Tyne NHS Foundation Trust
Funder Newcastle Upon Tyne NHS Foundation Trust
CI Dr Robert McFarland
Sites Newcastle
Contact details julia.maddison@ncl.ac.uk
More information


Approximately 1 in 3,500 women are affected by a mutation causing mitochondrial disease. Many of those women are of childbearing age.

But there is currently no information available to these women on the risk of complications in pregnancy.

In women with impaired mitochondrial function, the increased respiratory demand during pregnancy and particularly at the start of labour may lead to serious complications.

Primary objective

To investigate if increased energy demand can lead to complications of pregnancy in women with a mitochondrial mutation or diagnosed with Mitochondrial Disease.

Assessment will be undertaken at a face to face interview. It will use:

  • a structured questionnaire
  • or a postal questionnaire with telephone assistance at a pre-booked time suitable for the participant