Measuring oxygen levels in muscle for mitochondrial myopathy
The Development of Minimally Invasive Nanosensor Technology to Quantify Mitochondrial Function in Human Muscle
This study is testing a new device that measures oxygen levels in muscles during exercise to see if it can help understand how mitochondrial myopathy affects patients and improve future treatments.
Quick facts
| Phase | Phase 1 |
|---|---|
| Study type | Interventional |
| Enrollment | 24 (estimated) |
| Ages | 18 Years to 65 Years |
| Sex | All |
| Sponsor | Children's Hospital of Philadelphia Academic / other |
| Locations | 1 site (Philadelphia, Pennsylvania) |
| Trial ID | NCT04086329 on ClinicalTrials.gov |
What this trial studies
This clinical trial aims to validate an electrochemical oxygen nanosensor for assessing mitochondrial function in patients with mitochondrial myopathy (MM) and healthy volunteers. Participants will undergo muscle oxygen measurements during handgrip exercise, with follow-up assessments to evaluate the reproducibility of the results. The study seeks to establish reliable biomarkers that reflect disease severity and therapeutic response, which could enhance future treatment strategies for mitochondrial diseases.
Who should consider this trial
Good fit: Ideal candidates include adults aged 18 to 65 with genetically-confirmed mitochondrial myopathy and healthy volunteers within the same age range.
Not a fit: Patients outside the age range of 18 to 65 or those without a confirmed diagnosis of mitochondrial myopathy may not benefit from this study.
Why it matters
Potential benefit: If successful, this study could lead to improved diagnostic and therapeutic approaches for patients with mitochondrial diseases.
How similar studies have performed: While there have been challenges in previous mitochondrial disease studies, the use of innovative biomarkers like the nanosensor represents a novel approach that has not been extensively tested.
Eligibility criteria
Show full inclusion / exclusion 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)
Where this trial is running
Philadelphia, Pennsylvania
- The Children's Hospital of Philadelphia — Philadelphia, Pennsylvania, United States (Recruiting)
Study contacts
- Principal investigator: Zarazuela Zolkipli-Cunningham — Children's Hospital of Philadelphia
- Study coordinator: Zarazuela Zolkipli-Cunningham
- Email: zolkipliz@chop.edu
- Phone: (267) 426 4961
How to participate
- Review the eligibility criteria above with your treating physician.
- Visit the official trial page on ClinicalTrials.gov for the most current contact information and recruitment status.
- Contact the listed study coordinator or principal investigator to request pre-screening. Pre-screening is free and never obligates you to enroll.