NCT05569122 · Children's Hospital of Philadelphia
Applying pGz in Mitochondrial Disease
What this study is about
This is a multi-aim study, studying the effects of conventional exercise (measured through Cardiopulomary Exercises Testing or an in-bed pedal exercise) and passive exercise through periodic acceleration (pGz). Aim 1 will focus on the differences between primary mitochondrial disease (PMD) patients and healthy volunteers.
View original scientific description
This is a multi-aim study, studying the effects of conventional exercise (measured through Cardiopulomary Exercises Testing or an in-bed pedal exercise) and passive exercise through periodic acceleration (pGz). Aim 1 will focus on the differences between primary mitochondrial disease (PMD) patients and healthy volunteers. Aim 2 is an exploratory aim, which will be studying the effects in patients admitted to the Children's Hospital of Philadelphia Pediatric Intensive Care Unit (PICU).
Interventions
DIAGNOSTIC_TEST
Cardiopulmonary Exercise Testing
Testing with an exercise bicycle that is considered "standard of care" for determination of exercise capacity. Participants will complete about 20 minutes of pedaling in a stationary exercise bike
DEVICE
pGz Bed
Participants will lay down on a passive exercise (pGz) bed for 45 minutes during which the bed will administer passive exercise through periodic acceleration
DEVICE
Gentle Jogger
Participants will have passive exercise delivered through the gentle jogger device for 45 minutes. This may be sitting down (aim 1 participants) or laying down (aim 2 participants)
DEVICE
Exercise Pedal
Participants will exercise while laying down for 20 minutes with an exercise pedal that attaches to the bed
DRUG
Lumason® contrast agent
Contrast agent used during a vascular ultrasound of the upper leg. Will occur at each study visit twice before and after pGz bed, gentle jogger, exercise pedal or CPET. Drug Administration will be through an IV line and take about 5 - 10 minutes.
Primary outcome measures
Aim 1: Mean Difference in Maximal Oxygen Consumption between primary mitochondrial disease patients and healthy volunteers
Time frame: During Cardiopulmonary Exercise Testing, which will last 1 hour
Maximal Oxygen Consumption will be measured only during CPET
Aim 2: Arterial-Venous (A-V) O2 difference
Time frame: A total of 4 15 minute blood draws
This will be measured through blood draws that occur before and after study interventions
Aim 1 and 2: Oxygen Consumption
Time frame: 1 hour per study intervention
Measured During the study interventions
Who can participate
This study lists these criteria on ClinicalTrials.gov. A study coordinator reviews eligibility during screening — this page does not determine whether you qualify.
Inclusion criteria
- for Healthy Controls
- Males or females, 10 years to 60 years, with a minimum height for participation of 135 cm
- Ambulatory and able to complete routine clinical exercise testing
- Willing and able to complete all study procedures
- For individuals under the age of 18, parental/guardian permission (informed consent) and as appropriate, child assent
- For individuals over the age of 18 the ability to provide informed consent Inclusion Criteria for PMD Patients
- Males or females, 10 years to 60 years, with a minimum height for participation of 135 cm
- Ambulatory and able to complete routine clinical exercise testing
- Willing and able to complete all study procedures
- Genetically confirmed mitochondrial myopathy (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
- Parental/guardian permission (informed consent) and as appropriate, child assent
Exclusion criteria
- for All Aim 1 Participants General Exclusion Criteria
- Tracheostomy
- Non-ambulatory
- Unable to complete routine exercise testing
- Diagnosed with or have symptoms of vertigo
- Within 1 month of a recent hospital admission for acute illness
- Severe co-existing cardiac or pulmonary disease
- Cognitive impairment that may preclude ability to comply with study procedures
- Pregnant or lactating females
- Active alcohol and/or substance abuse
- At the discretion of the principal investigator (PI), any medical condition that will interfere with or prevent the safe completion of the study
- Parents/guardians or subjects who, in the opinion of the Investigator, may be non-compliant with study schedules or procedures
- Use of investigational agent(s) within 4 weeks
- Individuals who are employed by the U.S. Department of Defense, including U.S military personal
- Patients with biliary atresia with asplenia or polysplenia.
- Patients with prior liver transplant.
- Patients with cystic fibrosis.
- Patients with chronic lung disease.
- Patients with portal vein thrombosis, cavernous transformation of the portal vein or absent portal vein.
- Patients with significant heart disease or severe congenital heart disease.
- Patients with a history of allergic reaction to Lumason®, sulfur hexafluoride, sulfur hexafluoride lipid microsphere components, or other ingredients in Lumason (polyethylene glycol, distearoylphosphatidlycholine (DSPC), dipalmitoylphosphatidylglycerol sodium (DPPG-Na, palmitic acid) or other components of the ultrasound contrast agent
- Any history of intraocular injury or fragment in or around the orbit that cannot be cleared through radiologic evaluation
- Any history of bullet, shrapnel, or stabbing wounds that cannot be cleared through radiologic evaluation
- Past or current employment involving (or exposure to) a metal grinder (e.g., at a construction worksite)
- Claustrophobia or any known medical conditions which can be exacerbated by stress, anxiety, or panic attacks triggered by enclosed spaces
- Inability to lie flat in an MRI scanner for up to 45 minutes
- Unable to perform sub-maximal ankle dorsiflexion leg exercise during the MRI study Aim 2 Enrollment Criteria Inclusion Criteria for PICU PMD Non-Ambulatory Patients
- Males or females ages 10 to 23 years (children and adults)
- Non-ambulatory
- Genetically confirmed mtDNA-PMD
- Cooperative and capable of following research procedures
- Have cognitive ability to enable cooperation with study procedures
- Admitted to the PICU with an anticipated length of stay for \>24 hours
- Willing and able to complete all study procedures
- For individuals under the age of 18, parental/guardian permission (informed consent) and as appropriate, child assent
- For individuals over the age of 18 the ability to provide informed consent Inclusion Criteria for PICU non-PMD neuromuscular diagnosis
- Males or females ages 10 to 23 years (children and adults)
- Non-ambulatory
- Genetically confirmed non-PMD neuromuscular diagnosis
- Cooperative and capable of following research procedures
- Have cognitive ability to enable cooperation with study procedures
- Admitted to the PICU with an anticipated length of stay for \>24 hours
- For individuals under the age of 18, parental/guardian permission (informed consent) and as appropriate, child assent
- For individuals over the age of 18 the ability to provide informed consent Inclusion Criteria for all other PICU Participants
- Males or females ages 10 to 23 years (children and adults)
- Non-ambulatory
- No known genetic diagnosis with healthy pre-morbid status, admitted to PICU
- Cooperative and capable of following research procedures
- Have cognitive ability to enable cooperation with study procedures
- Admitted to the PICU with an anticipated length of stay for \>24 hours
- Willing and able to complete all study procedures
- For individuals under the age of 18, parental/guardian permission (informed consent) and as appropriate, child assent
- For individuals over the age of 18 the ability to provide informed consent Exclusion Criteria for All Aim 2 Participants
- Have cognitive impairment that may preclude ability to comply with study procedures
- Have cardiorespiratory instability
- Patients in whom are so sick that they will not be able to cooperate with the study procedures
- Have clear contraindications to mobilization
- Have fixed lower limb deformities/contractures that would prohibit lower extremity exercise
- Pregnant or lactating females
- Active alcohol and/or substance abuse
- At the discretion of the principal investigator (PI), any medical condition that will interfere with or prevent the safe completion of the study
- Use of investigational agent(s) within 4 weeks
- Individual who are employed by the U.S. Department of Defense, including U.S military personal
- Patients with biliary atresia with asplenia or polysplenia.
- Patients with prior liver transplant.
- Patients with cystic fibrosis.
- Patients with chronic lung disease.
- Patients with portal vein thrombosis, cavernous transformation of the portal vein or absent portal vein.
- Patients with significant heart disease or severe congenital heart disease.
- Patients with a history of allergic reaction to Lumason®, sulfur hexafluoride, sulfur hexafluoride lipid microsphere components, or other ingredients in Lumason (polyethylene glycol, distearoylphosphatidlycholine (DSPC), dipalmitoylphosphatidylglycerol sodium (DPPG-Na, palmitic acid) or other components of the ultrasound contrast agent Exclusion Criteria Specific to study procedure: CrCEST MRI Scan:
- Any history of intraocular injury or fragment in or around the orbit that cannot be cleared through radiologic evaluation
- Any history of bullet, shrapnel, or stabbing wounds that cannot be cleared through radiologic evaluation
- Past or current employment involving (or exposure to) a metal grinder (e.g., at a construction worksite)
- Claustrophobia or any known medical conditions which can be exacerbated by stress, anxiety, or panic attacks triggered by enclosed spaces
- Inability to lie flat in an MRI scanner for up to 45 minutes
- Unable to perform sub-maximal ankle dorsiflexion leg exercise during the MRI study
Where
- Philadelphia, Pennsylvania
Collaborators
United States Department of Defense
Related conditions & keywords
Frequently asked questions
What is a clinical trial?
A clinical trial is a research study that tests new medical treatments, drugs, devices, or procedures to determine their safety and effectiveness. Trials are carefully designed and monitored to protect participants while advancing medical knowledge.
Is it safe to participate?
Clinical trials follow strict safety guidelines and ethical standards. Trials must be reviewed and approved, and participants are closely monitored by medical professionals throughout the study. You can withdraw at any time if you choose.
Will I be compensated?
Many clinical trials offer compensation for your time, travel expenses, and inconvenience. The specific compensation varies by study and will be discussed during the screening process. All study-related medical care is typically provided at no cost to participants.
Will I receive a placebo instead of treatment?
When effective treatment exists, participants typically receive either the standard treatment plus the study intervention, or the standard treatment plus placebo. You would not be denied effective care. Placebos are primarily used when no proven treatment is available, or in addition to standard care. Your trial consent form will clearly explain what treatments you may receive.
Can I leave a trial if I change my mind?
Absolutely. Participation in clinical trials is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty or loss of benefits to which you are otherwise entitled.
How long does a clinical trial last?
Trial duration varies widely depending on the study design and purpose. Some trials last just a few weeks, while others may continue for months or years. The study coordinator will provide specific timeline information during your screening call.
Data: ClinicalTrials.gov · synced Nov 10, 2025 · Source of record for eligibility and locations