Status:
RECRUITING
Validation of Oxygen Nanosensor in Mitochondrial Myopathy
Lead Sponsor:
Children's Hospital of Philadelphia
Collaborating Sponsors:
National Institute of Neurological Disorders and Stroke (NINDS)
Conditions:
Mitochondrial Myopathies
Mitochondrial Diseases
Eligibility:
All Genders
18-65 years
Phase:
PHASE1
Brief Summary
Past mitochondrial disease treatment studies have been unsuccessful in determining treatment efficacy, and a major factor has been the lack of validated biomarkers in mitochondrial myopathy (MM). Ther...
Detailed Description
This is an investigational device clinical trial. MM cases and healthy volunteers will undergo nanosensor muscle oxygen measurement in exercised (dominant) forearm muscle during handgrip exercise. The...
Eligibility Criteria
Inclusion
- Inclusion Criteria for Healthy Controls
- Males and females, between the ages of 18 and 65 years, inclusive
- Provide informed consent for study participation; able to understand and complete the protocol
- Able to ambulate independently
- Able to perform bicycle ergometry
- Inclusion Criteria for MM Cases
- Males and females, between the ages of 18 and 65 years, inclusive
- Provide informed consent for study participation; able to understand and complete the protocol
- 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.
- 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)
- Able to ambulate independently
- Able to perform bicycle ergometry
- Exclusion Criteria for All Participants
- Subjects will be excluded if any of the following apply:
- Unable to provide informed consent and complete all study procedures, including ergometry
- Non-ambulatory or unable to ambulate independently
- Pregnant
- Within 1 month of a recent hospital admission due to acute illness
- 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
- Have a tracheostomy
- Have a known bleeding disorder and/or family history (first-degree relative) with a known bleeding disorder
- Daily intake of aspirin or any other anti-platelet therapy which cannot be temporarily discontinued for medical reasons
- 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
- 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
- Prone to hypertrophic scars and keloids
- Have any other known inherited myopathy, such as Duchenne muscular dystrophy or congenital myopathy
- Known allergy to lidocaine
- Have a cognitive impairment that may prevent the ability to complete study procedures
- 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
- Individuals from vulnerable populations (e.g., prisoners/detainees)
- Participants who are unable to speak and/or read English (as participants will be required to be proficient to complete study procedures)
Exclusion
Key Trial Info
Start Date :
January 17 2023
Trial Type :
INTERVENTIONAL
Allocation :
ESTIMATED
End Date :
August 1 2027
Estimated Enrollment :
24 Patients enrolled
Trial Details
Trial ID
NCT04086329
Start Date
January 17 2023
End Date
August 1 2027
Last Update
September 10 2025
Active Locations (1)
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1
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, United States, 19104