Philadelphia, PANCT05569122Now EnrollingIRB Ready

Mitochondrial Myopathies Clinical Trial in Philadelphia, PA

Access cutting-edge mitochondrial myopathies treatment through this phase 1 clinical trial at a research site in Philadelphia. Study-provided care at no cost to qualified participants.

Sponsored by Children's Hospital of Philadelphia

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Expert Care in Philadelphia

Access mitochondrial myopathies specialists at no cost

IRB Approved

This study follows strict safety protocols and ethical guidelines

No-Cost Care

All study-related mitochondrial myopathies treatment provided free

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Check if you qualify for this mitochondrial myopathies clinical trial in Philadelphia, PA

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Your information is protected and will only be shared with the research team.

Why Participate?

  • No-Cost Study Care

  • Local to Philadelphia

    Convenient for PA residents

  • Cutting-Edge Treatment

    Access to innovative therapies

  • Expert Medical Care

    Close monitoring by specialists

  • Possible Compensation*

    For time and travel

*Compensation varies by study. Confirm details with coordinator.

Simple Process

  1. 1Submit this form
  2. 2Phone screening
  3. 3Visit Philadelphia site if eligible
  4. 4Begin participation

About This Mitochondrial Myopathies Study in Philadelphia

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).

Sponsor: Children's Hospital of Philadelphia

Who Can Participate

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

Not sure if you qualify? Submit your interest and a study coordinator will help determine your eligibility.

Frequently Asked Questions

Q:Is this study available in Philadelphia?

Yes, this clinical trial (NCT05569122) has an active research site in Philadelphia, PA that is currently enrolling participants.

Q:Is it safe to participate?

Clinical trials follow strict safety guidelines and ethical standards. This study has been reviewed and approved, and participants are closely monitored by medical professionals. You can withdraw at any time.

Q:Will I be compensated?

Many clinical trials offer compensation for your time and travel expenses. Specific compensation details will be discussed during the screening process. All study-related medical care is provided at no cost.

Q:Can I leave the trial if I change my mind?

Absolutely. Participation is completely voluntary. You have the right to withdraw from the study at any time, for any reason, without penalty.

Still have questions? Our study coordinators are here to help.

Mitochondrial Myopathies Treatment Options in Philadelphia, PA

If you're searching for mitochondrial myopathies treatment options in Philadelphia, PA, this clinical trial (NCT05569122) may be an excellent opportunity. Clinical trials provide access to cutting-edge treatments that aren't yet available to the general public, often at no cost to participants.

Our Philadelphia research site is actively enrolling participants for this phase 1 clinical trial. You'll receive care from experienced mitochondrial myopathies specialists who are at the forefront of medical research. All study-related care, including examinations, treatments, and monitoring, is provided at no cost to qualified participants.

Looking for more options? Browse all mitochondrial myopathies clinical trials near you to find additional studies recruiting in your area.

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