MItochondrial MyopathiesPhase 1NCT06819683
Validation of Nanosensor Oxygen Measurement
A Phase 1 study testing Nanosensor in people with MItochondrial Myopathies and Mitochondrial Disease, run by Children's Hospital of Philadelphia at 1 site in United States.
Trial 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). Read more about this study
- Who is it for?
- Ages 18 to 65 yearsHealthy volunteers can take part
- Conditions the study is for
- MItochondrial Myopathies, Mitochondrial Disease
- What is being tested?
- Nanosensor
- Type of treatment
- Medical device
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 70 participants
- Where
- 1 siteUnited States
- Study dates
- 2 Jan 2025to Sep 2027
- Phase
- Phase 1
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 65 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- 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
- 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
Show all 10Show fewer
- 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
Who cannot join
- 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
Show all 19Show fewer
- 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)
- Employed by the U.S. Department of Defense, including U.S. military personnel
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
United States1 site, 1 recruiting
- Recruiting
The Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
Zarazuela Zolkipli-Cunningham, MBChB, MRCP, 267-426-1986, MitoMyopathyResearch@chop.edu
Daniel McGinn, MS, LCGC, (267) 426-1986, MitoMyopathyResearch@chop.edu
About this study
Official title: The Validation of Minimally Invasive Oxygen Nanosensor Technology to Quantify Mitochondrial Function in Human Muscle
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). There is currently a growing number of potential new treatments to be tested through MM clinical intervention trials, which has created a pressing need for quantitative biomarkers that reliably reflect MM disease severity, progression, and therapeutic response. The purpose of the study is to measure the efficacy of an electrochemical oxygen nanosensor to measure in vivo mitochondrial function in human muscle tissue, and its ability to discriminate MM patients from healthy volunteers. The data and results from this nanosensor study may contribute to current and future research, including improved diagnostic and therapeutic approaches for patients with mitochondrial disease.
Read the detailed description
This is an investigational device clinical trial. Mitochondrial Myopathy (MM) cases and healthy volunteers will undergo nanosensor muscle oxygen measurement in exercised (dominant) forearm muscle during handgrip exercise.
After placement of the nanosensor in the forearm under local anesthesia, the primary outcome measure is nanosensor-muscle oxygen levels. The secondary outcome measure is an assessment of pain.
- Conditions
- MItochondrial Myopathies, Mitochondrial Disease
- Being tested
- Nanosensor
- Medical subject headings
- Mitochondrial Myopathies, Mitochondrial Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
NanosensorDevice
The purpose of the study is to test a device called a "nanosensor", which measures oxygen levels (a proxy of mitochondrial function) in muscle. The nanosensor has not been tested in humans nor has it been approved by the FDA. The study nanosensor measures 1.8 mm width x 6 mm length x 0.3 mm depth. Placement of the sterilized nanosensor involves a small incision for manual placement of the nanosensor in muscle forearm tissue.
| Study group | Role | What they receive |
|---|---|---|
| Affected Mitochondrial Myopathy (MM) Cases | Experimental | Key eligibility criteria for Mitochondrial Myopathy (MM) cases includes physically-capable adults (male and females, ages 18 to 65 years, inclusive) with genetically-confirmed MM with predominant symptoms of myopathy as expressed by exercise intolerance and muscle weakness and fatigue. Receives: Device: Nanosensor |
| Healthy Controls | Active comparator | Adult healthy volunteers will be individually matched with corresponding Mitochondrial Myopathy cases based on age, biological sex, and body mass index. Receives: Device: Nanosensor |
What is being measured
The primary outcome is the main question the study is designed to answer.
Nanosensor-muscle oxygen (Torr) levels during handgrip exercises
Nanosensor-muscle oxygen (Torr) levels will be measure in the (dominant) forearm muscle during handgrip exercises and correlated to the standard measure of venous oxygenation (VO2) levels using standard clinical indirect calorimetry as a measure of tissue oxygen consumption. This data will be reported as the Torr value at each time point during measurement.
Measured: before, during and after handgrip exercise up to 4 hours or up to 40 days after the screening visit
Nanosensor-muscle oxygen (Torr) levels post Cardiopulmonary Exercise Testing (CPET)
Nanosensor-muscle oxygen (Torr) levels before cardiopulmonary exercise testing (CPET) will be measured in the (dominant) forearm muscle by comparing exercised muscle oxygen levels to the venous oxygen (VO2max) levels recorded during the CPET exercise. This data will be reported as the Torr value at each time point during measurement.
Measured: After CPET exercise up to 1-hour
Secondary outcomes (3)
Self-reported pain level assessment
After the exercise procedure, participants will self-report the level of pain/discomfort with the validated Wong-Baker Faces Pain Rating Scale and Numerical Rating Scale. The Wong-Baker Faces Pain Rating Scale is a tool used to assess pain levels in young children by presenting using a combination of faces, numbers, and words to help the participant effectively communicate the severity of their physical pain. The scale includes a happy face indicating 0="no hurt" to a crying face signifying 10="hurts worst." The NRS is a pain screening tool, commonly used to assess pain severity at that moment in time using a 0-10 scale, with zero meaning "no pain" and 10 meaning "the worst pain imaginable." All subjects will respond to both surveys.
Measured: up to 40 days after the screening visit
Patient Satisfaction
Patient satisfaction will be measured by participants completing the Post-operative Patient Satisfaction Survey. The survey consists of one question to gauge self-reported insight on their overall experience. Responses note the experience was "Agreeable", "Neither pleasant nor unpleasant", "Slightly uncomfortable", "Disagreeable", or "Traumatic".
Measured: After study procedures are completed (approximately day 40)
Self-reported fatigue
After the exercise period, participants will self-report the level of fatigue as a measure of disease burden using the Modified Fatigue Impact Scale (MFIS). This scale includes 9 questions regarding subject's fatigue symptoms and how it impacts their life. Answers range from "Strongly Agree" to "Strongly Disagree" with 7 answer choices for each question.
Measured: After study procedures are completed (approximately day 40)
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Feb 2025
- Study start2 Jan 2025
- Primary completionSep 2027 (estimated)
- Study completionSep 2027 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for MItochondrial MyopathiesStudies of the same condition, open and under way.
- More trials run by Children's Hospital of PhiladelphiaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase 1
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Enrolment
- 70 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Children's Hospital of Philadelphia
- Sponsor type
- University, hospital or other
- Collaborators
- United States Department of Defense
- Responsible party
- Sponsor
- Investigators
- Zarazuela Zolkipli-Cunningham, MBChB, MRCP, Principal investigator, Children's Hospital of Philadelphia
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06819683
- Sponsor's protocol ID
- 22-019820
- Other IDs
- W81XWH2210590
- Status last verified
- Oct 2026
- First submitted
- 4 Feb 2025
- Last updated
- 7 Oct 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- Yes
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 7 Oct 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- The Validation of Minimally Invasive Oxygen Nanosensor Technology to Quantify Mitochondrial Function in Human Muscle
- ClinicalTrials.gov ID
- NCT06819683
- Acronym / sponsor ID
- 22-019820
- Conditions
- MItochondrial Myopathies, Mitochondrial Disease
- Phase
- Phase 1
- Study type
- Interventional
- Recruitment status
- Recruiting
- Enrolment
- 70 participants (estimated)
- Lead sponsor
- Children's Hospital of PhiladelphiaUniversity, hospital or other
- Collaborators
- United States Department of Defense
- Study start
- 2 Jan 2025 (actual)
- Primary completion
- Sep 2027 (estimated)
- Study completion
- Sep 2027 (estimated)
- First posted
- 11 Feb 2025 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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). There is currently a growing number of potential new treatments to be tested through MM clinical intervention trials, which has created a pressing need for quantitative biomarkers that reliably reflect MM disease severity, progression, and therapeutic response. The purpose of the study is to measure the efficacy of an electrochemical oxygen nanosensor to measure in vivo mitochondrial function in human muscle tissue, and its ability to discriminate MM patients from healthy volunteers. The data and results from this nanosensor study may contribute to current and future research, including improved diagnostic and therapeutic approaches for patients with mitochondrial disease.
Detailed description
This is an investigational device clinical trial. Mitochondrial Myopathy (MM) cases and healthy volunteers will undergo nanosensor muscle oxygen measurement in exercised (dominant) forearm muscle during handgrip exercise.
After placement of the nanosensor in the forearm under local anesthesia, the primary outcome measure is nanosensor-muscle oxygen levels. The secondary outcome measure is an assessment of pain.
Study design
- Primary purpose
- Diagnosis
- Allocation
- Non-randomised
- Intervention model
- Parallel groups
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Affected Mitochondrial Myopathy (MM) Cases | Experimental | Device: NanosensorKey eligibility criteria for Mitochondrial Myopathy (MM) cases includes physically-capable adults (male and females, ages 18 to 65 years, inclusive) with genetically-confirmed MM with predominant symptoms of myopathy as expressed by exercise intolerance and muscle weakness and fatigue. |
| Healthy Controls | Active comparator | Device: NanosensorAdult healthy volunteers will be individually matched with corresponding Mitochondrial Myopathy cases based on age, biological sex, and body mass index. |
Who may qualify
- Ages
- 18 to 65 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (10 listed)
- 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
Key exclusion criteria (19 listed)
- 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
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| NanosensorThe purpose of the study is to test a device called a "nanosensor", which measures oxygen levels (a proxy of mitochondrial function) in muscle. The nanosensor has not been tested in humans nor has it been approved by the FDA. The study nanosensor measures 1.8 mm width x 6 mm length x 0.3 mm depth. Placement of the sterilized nanosensor involves a small incision for manual placement of the nanosensor in muscle forearm tissue. | Device | Affected Mitochondrial Myopathy (MM) Cases, Healthy Controls |
Primary outcome
Nanosensor-muscle oxygen (Torr) levels during handgrip exercises
Time frame: before, during and after handgrip exercise up to 4 hours or up to 40 days after the screening visit
Nanosensor-muscle oxygen (Torr) levels will be measure in the (dominant) forearm muscle during handgrip exercises and correlated to the standard measure of venous oxygenation (VO2) levels using standard clinical indirect calorimetry as a measure of tissue oxygen consumption. This data will be reported as the Torr value at each time point during measurement.
Nanosensor-muscle oxygen (Torr) levels post Cardiopulmonary Exercise Testing (CPET)
Time frame: After CPET exercise up to 1-hour
Nanosensor-muscle oxygen (Torr) levels before cardiopulmonary exercise testing (CPET) will be measured in the (dominant) forearm muscle by comparing exercised muscle oxygen levels to the venous oxygen (VO2max) levels recorded during the CPET exercise. This data will be reported as the Torr value at each time point during measurement.
3 secondary outcomes
Self-reported pain level assessment
Time frame: up to 40 days after the screening visit
Patient Satisfaction
Time frame: After study procedures are completed (approximately day 40)
Self-reported fatigue
Time frame: After study procedures are completed (approximately day 40)
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 7 Oct 2026.
- Individual participant dataSharing planned: No
Related trials for MItochondrial Myopathies
RecruitingPhase 2
Deoxynucleosides Pyrimidines as Treatment for Mitochondrial Depletion Syndrome
Mitochondrial Diseases, Mitochondrial Encephalomyopathy
RecruitingPhase 3
KHENERFIN Study: A Trial to Evaluate the Efficacy and Safety of Sonlicromanol in Primary Mitochondrial Diseases
Mitochondrial Diseases, Maternally Inherited Diabetes and Deafness (MIDD)
Active, not recruitingPhase 2
An Open-label Extension Safety Study of MELAS Patients Who Completed TIS6463-203 (PRIZM)
Mitochondrial Encephalopathy, Lactic Acidosis and Stroke-Like Episodes (MELAS Syndrome)
Not yet recruitingPhase 1/2
A Basket Clinical Study to Assess Glycerol Tributyrate in Patients With Mitochondrial Encephalopathy, Lactic Acidosis, Stroke-like Episodes (MELAS) or Leber's Hereditary Optic Neuropathy-Plus (LHON-Plus)
MELAS Syndrome, Lebers Hereditory Optic Neuropathy With Extra Ocular Symptoms (LHON-Plus)
Not yet recruitingObservational study
The Precision Mito- Mito Map COMPASS Study
Mitochondrial Diseases, Myalgic Encephalomyelitis Chronic Fatigue Syndrome
Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Zarazuela Zolkipli-Cunningham, MBChB, MRCP principal investigator
Children's Hospital of Philadelphia
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A Phase 1 study testing Nanosensor in people with MItochondrial Myopathies and Mitochondrial Disease, run by Children's Hospital of Philadelphia at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 10 inclusion and 19 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 7 Oct 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
What does this phase mean?
Phase 1 studies test a treatment in a small group of people for the first time or in a new way, mainly to check safety and find the right dose.
Not every study follows the same path, and some studies (observational studies, device studies) have no phase.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Zarazuela Zolkipli-Cunningham, MBChB, MRCP (267-426-1986, MitoMyopathyResearch@chop.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Nanosensor-muscle oxygen (Torr) levels during handgrip exercises (time frame: before, during and after handgrip exercise up to 4 hours or up to 40 days after the screening visit). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 7 Oct 2026.