Study Title: Muscle MRI as a tool to detect glycogen in skeletal muscles of patients with adult onset Pompe patients
Status: Currently recruiting
A research group led by Prof. Jordi Díaz-Manera at the John Walton Muscular Dystrophy Research Centre in Newcastle is currently recruiting UK Pompe patients for an important study of skeletal muscles. This is a project where they will assess a new MRI sequence, called carbon spectroscopy, to see if it can detect and quantify glycogen in the muscles of Pompe patients.
The group are looking for people mildly affected by Pompe who should be:
- older than 10 years
- have not yet started treatment (ERT) – or possibly who started ERT in the last two years.
- symptomatic or pre-symptomatic.
- can lie down for 45 minutes without breathing assistance
Participants included in the study will have two separate visits to Newcastle, one at baseline and another one year later. The visits will include a muscle function test, blood analysis, and the MRI.
All travel and hotel costs will be reimbursed.
If you, or a family member would like to be considered for this study, please contact Allan Muir (firstname.lastname@example.org) and we will put you in touch with the research team.