Validation of Oxygen Nanosensor in Mitochondrial Myopathy

This study tests a new technology called an oxygen nanosensor — a tiny device inserted under the skin that measures how much oxygen muscles are using during exercise — in people with Mitochondrial Myopathy (MM) and in healthy volunteers. MM is a genetic disease where the body's energy-producing structures (mitochondria) don't work properly, making muscles tire extremely easily. The study involves a muscle biopsy to insert the nanosensor and cycling on a stationary bike. Researchers want to see if this sensor gives accurate, real-time readings about muscle oxygen use in people with MM compared to healthy controls. Currently, diagnosing and monitoring MM requires expensive, cumbersome tests. A reliable oxygen nanosensor could give doctors a much simpler, direct window into how muscles are functioning in real time. If validated, this could transform how MM is monitored and how treatments are evaluated. You may be eligible if: - You are between 18 and 65 years old - You can walk independently and perform bicycle exercise - As an MM patient: you have a genetic diagnosis of primary mitochondrial disease with predominantly muscle symptoms - As a healthy control: you have no mitochondrial or muscle disease You may NOT be eligible if: - You are pregnant - You have severe heart disease (ejection fraction below 35%) or severe lung disease requiring supplemental oxygen - You have a known bleeding disorder - You are on daily aspirin or anti-platelet therapy - You have a known allergy to lidocaine - You are non-ambulatory or cannot perform exercise testing - You are unable to speak and/or read English Talk to your doctor to see if this trial is right for you.