Validation of Oxygen Nanosensor in Mitochondrial Myopathy

Launched by CHILDREN'S HOSPITAL OF PHILADELPHIA · Sep 9, 2019

Keywords

ClinConnect Summary

This clinical trial is studying a special device called an electrochemical oxygen nanosensor, which is designed to measure how well mitochondria (the energy-producing parts of our cells) are functioning in the muscles of people with mitochondrial myopathy (MM). Mitochondrial myopathy is a condition that can cause muscle weakness and fatigue due to problems with the mitochondria. The goal of this study is to see if this nanosensor can accurately tell the difference between healthy individuals and those with MM, which could help in developing better treatments and ways to diagnose this condition in the future.

The trial is open to both healthy volunteers and adults aged 18 to 65 who have been diagnosed with MM. To participate, individuals must be able to walk independently and perform a specific exercise test on a stationary bike. Participants will need to give their consent and understand the study requirements. If you or someone you know is interested in joining, be aware that there are some health conditions that might exclude a person from participating, such as severe heart or lung diseases. This study could play an important role in improving our understanding and treatment of mitochondrial diseases, so it’s an exciting opportunity for those eligible.

Gender

ALL

Eligibility criteria

• • Inclusion Criteria for Healthy Controls
• • 1. Males and females, between the ages of 18 and 65 years, inclusive
• • 2. Provide informed consent for study participation; able to understand and complete the protocol
• • 3. Able to ambulate independently
• • 4. Able to perform bicycle ergometry
• • Inclusion Criteria for MM Cases
• • 1. Males and females, between the ages of 18 and 65 years, inclusive
• • 2. Provide informed consent for study participation; able to understand and complete the protocol
• • 3. Genetically-confirmed MM as defined by a diagnosis of primary mitochondrial disease (PMD) with predominant symptoms of myopathy as expressed by exercise intolerance and muscle weakness and fatigue.
• • 4. Previously enrolled (or will enroll) in Children's Hospital of Philadelphia (CHOP) Institutional Review Board (IRB) study #08-006177 (Falk, PI) or CHOP IRB #16-013364 (Zolkipli, PI)
• • 5. Able to ambulate independently
• • 6. Able to perform bicycle ergometry
• • Exclusion Criteria for All Participants
• Subjects will be excluded if any of the following apply:
• • 1. Unable to provide informed consent and complete all study procedures, including ergometry
• • 2. Non-ambulatory or unable to ambulate independently
• • 3. Pregnant
• • 4. Within 1 month of a recent hospital admission due to acute illness
• • 5. Have severe cardiac disease as defined by an ejection fraction of less than 35% and New York Heart Association Functional Classification Class III; or severe pulmonary disease as defined by the need for supplemental O2 therapy or daytime ventilatory support
• • 6. Have a tracheostomy
• • 7. Have a known bleeding disorder and/or family history (first-degree relative) with a known bleeding disorder
• • 8. Daily intake of aspirin or any other anti-platelet therapy which cannot be temporarily discontinued for medical reasons
• • 9. a) Have known or suspected congenital or acquired immune deficiency; b) concurrent use of immunosuppressive drugs, including corticosteroids; c) past history of recurrent (more than 6 times per year) severe (required hospitalization) skin or soft tissue infections; d) history of infection or delayed wound healing after surgery or biopsy; e) known history of neutropenia with absolute neutrophil count less than 500/mm3
• • 10. Undergo chronic steroid treatment as defined by daily oral intake (for more than 1 month) or have existing untreated endocrinopathies, such as hypothyroidism that caused acquired myopathy
• • 11. Prone to hypertrophic scars and keloids
• • 12. Have any other known inherited myopathy, such as Duchenne muscular dystrophy or congenital myopathy
• • 13. Known allergy to lidocaine
• • 14. Have a cognitive impairment that may prevent the ability to complete study procedures
• • 15. Unable to comply with the requirements of the study protocol and/or unsuitable for the study for any reason, in the opinion of the principal investigator
• • 16. Individuals from vulnerable populations (e.g., prisoners/detainees)
• • 17. Participants who are unable to speak and/or read English (as participants will be required to be proficient to complete study procedures)