NCT04734626
CrCest Study in Primary Mitochondrial Disease
Enrolling by Invitation
Not specifiedAges 7–75ObservationalChildren's Hospital of PhiladelphiaInvestigator-initiated
~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
Where it's being run
1 sites across 1 statesPennsylvania1
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
Do you actually qualify for this trial?
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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