CrCest Study in Primary Mitochondrial Disease

This observational study, called the CrCest Study, is looking at a special type of MRI called Creatine Chemical Exchange Saturation Transfer (CrCEST) Imaging. This imaging technique measures creatine levels in your leg muscles, both at rest and after a short exercise. The study aims to see if CrCEST can help us understand how well your muscles use energy (oxidative phosphorylation capacity) if you have a suspected or confirmed mitochondrial disease. Researchers hope this will lead to a new diagnostic tool for mitochondrial diseases. You may be able to join if you are between 7 and 75 years old and have a suspected or definite genetic mitochondrial disease diagnosis.

Study design: This is an observational study with a planned enrollment of 230 participants. It is not specified if this study is randomized or blinded.
What's involved: You would have a study MRI scan on the same day as a clinically scheduled MRI, lasting no more than 120 minutes. During the MRI, you will use a special machine to stimulate exercise, similar to pressing a gas pedal.
Compensation: Not stated in the trial record.
Follow-up: If eligible, you may have additional study-specific MRI assessments if you return to CHOP for future clinical imaging.

AI-generated from the public study record. Only the study team can confirm whether you're eligible — confirm details with them before making decisions.

CrCest Study in Primary Mitochondrial Disease

Enrolling by Invitation

Not specifiedAges 7–75Observational

Children's Hospital of Philadelphia

~230 participants

Updated 2026-01-14 on ClinicalTrials.gov

What's tested:Creatine Chemical Exchange Saturation Transfer (CrCEST) Imaging Sequence

At a glance

Recruiting sites

0 of 1 listed site is recruiting right now

RecruitingSuspended, closed, or not yet open

What they're measuring

Post-exercise CrCEST recovery time (seconds)

Measured over During the MRI

Conditions

Mitochondrial Diseases

NCT04734626

Where you'd take part

This study runs at 1 site. They're the same protocol — you choose where, and that choice sets who your contact draft is addressed to.

Children's Hospital of Philadelphia
Philadelphia, Pennsylvaniano site contact published

Sites open and close at different times, so the status above is per site — it can differ from the study's overall status.

Study leadership

Zarazuela Zolkipli Cunningham, MBChB MRCP · PRINCIPAL_INVESTIGATOR · Children's Hospital of Phiadelphia

Who to contact

This trial hasn't published a contact. View it on ClinicalTrials.gov

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Eligibility criteria

Inclusion

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

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

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

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 devices/implants; any non-removable metal-based object (e.g., body piercings, jewelry, etc.) that cannot be cleared through radiologic evaluation

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

Any potentially interfering clinical MRI contrast agents, as reviewed with the radiology team

At the discretion of the principal investigator (PI), any medical condition that will interfere with or prevent the safe completion of the study

Any female participant with childbearing potential who is knowingly pregnant or suspects that she is pregnant will be removed from the study. (Although there are no known risks of MRI on pregnant females or fetuses, there is a possibility of yet undiscovered pregnancy-related risks. Since there is no direct benefit from participating in this protocol for pregnant females, they will be excluded to ensure their long-term safety and that of their unborn fetus.)

To note, for this protocol, participants are instructed to lie still in the MRI scanner; there is no contrast or sedation. Participants will be asked to perform a brief (\< 2 minute) foot-pedal exercise. Investigators will ensure that total MRI scanning time (i.e., clinically indicated and study-specific scanning) does not exceed 120 minutes within a single day. Participants who do not possess the cognitive and/or physical abilities to perform these procedures will not be included.

Any history or genetic confirmation of mitochondrial disease

What this trial measures

Post-exercise CrCEST recovery time (seconds)During the MRI
The time it takes after the exercise occurs to recover CrCEST

Trialytics