Developing facial imaging to interrogate mechanisms of ageing, 1.0

• Research type

  Research Study

• Full title

  Interrogating mitochondrial dysfunction in facial appearance and ageing

• IRAS ID

  224374

• Contact name

  Grainne Gorman

• Contact email

  Grainne.Gorman@newcastle.ac.uk

• Sponsor organisation

  The Newcastle upon Tyne Hospitals NHS Foundation Trust

• Clinicaltrials.gov Identifier

  Not Applicable, Not Applicable

• Duration of Study in the UK

  1 years, 0 months, 1 days

• Research summary

  Mitochondria, which are present in most cells, are responsible for producing the energy we need. If mitochondria do not function properly (known as mitochondrial dysfunction), the ability of cells to
  generate sufficient energy to meet the body’s needs is compromised. Mitochondrial dysfunction is associated with a wide range of conditions affecting all body systems and in particular tissues with high energy demands (for example the brain or muscle).
  Mitochondrial l dysfunction is increasingly recognised to play a key role in the process of ageing. It follows therefore that understanding the underlying mechanisms causing this mitochondrial
  dysfunction will be central to tackling common age‐associated problems such as weakness, ataxia (co‐ordination problems) and dementia.

  These features are regularly observed in patients with primary mitochondrial diseases at a much younger age than in the unaffected population and we propose that patients with mitochondrial disease may serve as a potential model of accelerated ageing.

  This study will include 25 adult patients with a genetically or biochemically proven diagnosis of primary mitochondrial disease attending the NHS Highly Specialised Services Mitochondrial Clinic in
  Newcastle upon Tyne. Additionally, 25 control participants who do not have mitochondrial disease will be recruited for comparison.
  Mitochondrial patients will undergo a physical assessment as part of their routine standard clinical care management including performance of the Newcastle Mitochondrial Disease Adult Scale
  (NMDAS) which is a clinical rating scale to assess the severity of mitochondrial disease. Video assessments of specific tasks (smile, blink, walk, eye movement, speech) will also be performed to
  provide additional detail on the presentation of their mitochondrial disease.

  All participants will be asked to complete a study‐specific questionnaire to measure lifestyle and environmental‐related factors that may affect skin appearance over the lifespan. Facial images will
  then be captured using a specialised imaging booth; with additional images of the thumb, feet, and tongue captured by camera.
  Non-invasive skin swabs and a finger prick blood sample will also be collected to investigate whether any indicators (biomarkers) of UV‐induced damage to mitochondrial DNA (mtDNA) are present. If
  the participant is willing and able, a small stool sample will be collected to investigate the relationship between gut bacteria and facial appearance.

  The techniques used in this study may be of potential use in the future for diagnostic purposes, understanding disease progression and in the development of future treatment strategies for
  mitochondrial disease and potentially of other conditions associated with ageing.

• REC name

  North East - Newcastle & North Tyneside 1 Research Ethics Committee

• REC reference

  18/NE/0331

• Date of REC Opinion

  28 Feb 2019

• REC opinion

  Further Information Favourable Opinion