Mitochondrial Disease
Conditions
Keywords
Mitochondria
Brief summary
This is a developmental protocol to determine the MRI based 31P-MRS changes seen in subjects with mitochondrial myopathy using our dynamic exercise protocol and to identify the ideal variable(s) to represent mitochondrial function.
Interventions
None listed
Sponsors
Study design
Eligibility
Inclusion criteria
1. Men and women ≥ age 18 years old with primary mitochondrial myopathy 2. Known alteration in electron transport chain activity (\<25 % activity of ETC) or known mutations in mitochondrial gene.
Exclusion criteria
Failure based on standard clinical MRI Screening form - the form is intended to establish the safety of subjects participating in the MRI scan without divulging any confidentiality information -
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| PCr recovery after submaximal exercise by 31P-MRS | 1 year |
Countries
United States