NCT05569122 Applying pGz in Mitochondrial Disease
| NCT ID | NCT05569122 |
| Status | Recruiting |
| Phase | Phase 1 |
| Sponsor | Children's Hospital of Philadelphia |
| Condition | Mitochondrial Myopathies |
| Study Type | INTERVENTIONAL |
| Enrollment | 90 participants |
| Start Date | 2023-03-22 |
| Primary Completion | 2027-09 |
Eligibility & Interventions
Eligibility Fast-Check
Enter your details for a quick preliminary check. This does not replace medical advice.
What to Expect as a Participant
You will actively receive the study intervention — which may be a drug, biologic, device, or procedure.
Phase 1 is the earliest stage of human testing — safety and dosage are the primary focus. Visits are frequent and medical supervision is intensive. You will be among the first people to receive this treatment.
This trial targets 90 participants in total. It began in 2023-03-22 with a primary completion date of 2027-09.
⚠ This information is for research awareness only. Always consult your physician before joining any clinical trial. Participation is voluntary and you may withdraw at any time.
Brief Summary
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).
Eligibility Criteria
Aim 1 Enrollment Criteria 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
Contact & Investigator
Zuela Zolkipli-Cunningham, MBChB, MRCP
PRINCIPAL INVESTIGATOR
Attending Physician
Frequently Asked Questions
Who can join the NCT05569122 clinical trial?
This trial is open to participants of all sexes, aged 10 Years or older, up to 60 Years, studying Mitochondrial Myopathies. Full inclusion and exclusion criteria are listed in the Eligibility Criteria section. Always confirm your eligibility with the research team before applying.
What phase is the NCT05569122 trial and what does that mean for participants?
Phase 1 trials are the first stage of human testing. The primary goal is to assess safety and determine appropriate dosage levels. Participants are closely monitored. These trials typically involve a small number of volunteers.
Is NCT05569122 currently recruiting?
Yes, NCT05569122 is actively recruiting participants. Contact the research team at stanleyk2@chop.edu for enrollment information.
Where is the NCT05569122 trial being conducted?
This trial is being conducted at Philadelphia, United States.
Who is sponsoring the NCT05569122 clinical trial?
NCT05569122 is sponsored by Children's Hospital of Philadelphia. The principal investigator is Zuela Zolkipli-Cunningham, MBChB, MRCP at Attending Physician. The trial plans to enroll 90 participants.