Mitochondrial function in persons with Prader Willi Syndrome
Research type
Research Study
Full title
Mitochondrial function in persons with Prader Willi Syndrome
IRAS ID
340919
Contact name
Alison Sleigh
Contact email
Sponsor organisation
Cambridge University Hospitals NHS Foundation Trust and the University of Cambridge
Duration of Study in the UK
2 years, 0 months, 27 days
Research summary
There is some evidence that the energy producing powerhouses in the cells of the body (mitochondria) may not be working well in people with the genetically determine condition, Prader Willi Syndrome, and that this may explain some of the symptoms associated with the syndrome. By comparing with an age, sex, and BMI matched sedentary control group, this study will aim to systematically investigate this possibility using two established methods to study mitochondrial function in muscle. The first method is non-invasive using a form of magnetic resonance imaging (MRI) called magnetic resonance spectroscopy (MRS) in order to study chemical changes in muscles following exercise. The second method requires a small biopsy of muscle under local anaesthetic so the mitochondria in the muscle cells can be studied in the laboratory.These two methods combined with clinical assessments will establish the nature and extent of any mitochondrial dysfunction in people with PWS and will also allow the relationship with particular clinical measures to be determined. If such dysfunction is confirmed these methods used will help establish the possible cause of such dysfunction thereby potentially leading to new treatments.
REC name
Social Care REC
REC reference
24/IEC08/0027
Date of REC Opinion
24 Oct 2024
REC opinion
Further Information Favourable Opinion