By InvitationNot Applicable

CrCest Study in Primary Mitochondrial Disease

United States230 participantsStarted 2021-05-25

Plain-language summary

The purpose of this study is to perform a "muscle phenotyping" magnetic resonance imaging (MRI) assessment in patients receiving clinical care at the Children's Hospital of Philadelphia (CHOP) for mitochondrial disease that is either suspected (based on clinical presentation) or has a definite genetic diagnosis. The MRI assessment quantifies skeletal muscle oxidative phosphorylation (OXPHOS) capacity. Investigators hope that this study will contribute to our current knowledge of mitochondrial diseases and this study will help create a new diagnostic tool for use in both clinical care and in clinical trials.

Who can participate

Age range

7 Years – 75 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria (Mitochondrial Disease Patients): * Males and females, between the ages of 7 and 75, inclusive * Suspected (based on clinical presentation) or definite genetic mitochondrial disease diagnosis (i.e., genetic mutations in the constituents of the mitochondrial respiratory chain and/or genetic mutations that are likely to affect mitochondrial function) * Clinically eligible for an MRI of the lower leg. We are conducting clinical leg MRI scans of patients with definite mitochondrial disease for indications that include muscle weakness and muscle fatigue. * Able to perform sub-maximal ankle dorsiflexion leg exercise during the MRI study Inclusion Criteria (Healthy Controls): * Males and females, between the ages of 7 and 75 years, inclusive * Able to perform sub-maximal ankle dorsiflexion leg exercise during the MRI study Inclusion Criteria (Evaluable Healthy Controls and Cases for Data Analysis): * To note, we will merge coded datasets from Institutional Review Board (IRB) #15-012445, IRB #16-013364, and IRB #08-006177 with data from this study as part of our data analysis plan. * Complete and evaluable healthy control and cases from IRB #15-012445, IRB #16-013364, and IRB #08-006177 Exclusion Criteria (Mitochondrial Disease Patients and Healthy Controls): * In the investigator's opinion, inability to fully comply with research procedures * Active alcohol and/or substance abuse, including tobacco-use * A pacemaker; any metal-based medical or non-medical d…

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Post-exercise CrCEST recovery time (seconds)

Timeframe: During the MRI

Trial details

NCT IDNCT04734626

SponsorChildren's Hospital of Philadelphia

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2028-12-31

View on ClinicalTrials.gov More Mitochondrial Diseases trials