[{"data":1,"prerenderedAt":-1},["ShallowReactive",2],{"trial:NCT04734626":3,"trial-entities:NCT04734626":97,"trial-summary:NCT04734626":102},{"id":4,"nct_id":4,"org_study_id":5,"brief_title":6,"official_title":7,"overall_status":8,"completion_date":9,"status_verified_date":10,"last_update_date":11,"start_date":12,"sponsor_name":13,"lead_sponsor_class":14,"has_dmc":15,"brief_summary":16,"detailed_description":17,"conditions":18,"keywords":20,"study_type":21,"primary_purpose":22,"phases":23,"enrollment_info":24,"interventions":27,"primary_outcomes":35,"secondary_outcomes":40,"sex":50,"minimum_age":51,"maximum_age":52,"healthy_volunteers":15,"eligibility_criteria":53,"std_ages":76,"locations":80,"central_contacts":89,"overall_officials":90,"references":95,"see_also_links":96},"NCT04734626","19-016520","CrCest Study in Primary Mitochondrial Disease","Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease","ENROLLING_BY_INVITATION","2028-12-31","2026-01","2026-01-14","2021-05-25","Children's Hospital of Philadelphia","OTHER",false,"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.\n\nInvestigators 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.","This research study visit will occur on the same day as the participants clinically scheduled MRI. The clinically indicated and study-specific scanning time will not exceed 120 minutes.\n\nDuring the study visits:\n\n* A study team member will review inclusion and exclusion criteria with the participant\n* A study team member will review medical history review with the participant\n* A safety assessment will occur prior to study procedures\n* Study MRI scan\n* During which the participant will use an MRI-safe machine to stimulate exercise, similar to pressing a gas pedal\n\nIf eligible participants return to CHOP for future clinical imaging, we will also request a study-specific MRI assessment.",[19],"Mitochondrial Diseases",[],"OBSERVATIONAL",null,[],{"count":25,"type":26},230,"ESTIMATED",[28],{"type":29,"name":30,"description":31,"armGroupLabels":32},"DIAGNOSTIC_TEST","Creatine Chemical Exchange Saturation Transfer (CrCEST) Imaging Sequence","CrCEST be used to assess creatine distribution and concentrations in muscle (lower extremity), both at rest and after recovery from a brief foot-pedal depression exercise",[33,34],"Healthy Controls\u002FVolunteers","Mitochondrial Disease",[36],{"measure":37,"description":38,"timeFrame":39},"Post-exercise CrCEST recovery time (seconds)","The time it takes after the exercise occurs to recover CrCEST","During the MRI",[41,44,47],{"measure":42,"description":43,"timeFrame":39},"Resting CrCEST","Amount of CrCEST prior to exercise",{"measure":45,"description":46,"timeFrame":39},"Muscle Lipid Content","Includes both Intramyocellular lipid (IMCL) and extramyocellular lipids (EMCL) content, both expressed in arbitrary units relative to water signal and relative to creatine",{"measure":48,"description":49,"timeFrame":39},"Fat-fraction","n-point Dixon, expressed as a percentage of the total area","ALL","7 Years","75 Years",{"inclusion":54,"exclusion":62,"raw_text":75},[55,56,57,58,59,58,60,61],"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\u002For 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","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",[63,64,65,66,67,68,69,70,71,72,73,74],"In the investigator's opinion, inability to fully comply with research procedures","Active alcohol and\u002For substance abuse, including tobacco-use","A pacemaker; any metal-based medical or non-medical devices\u002Fimplants; 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 (\\\u003C 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\u002For physical abilities to perform these procedures will not be included.","Any history or genetic confirmation of mitochondrial disease","Inclusion Criteria (Mitochondrial Disease Patients):\n\n* Males and females, between the ages of 7 and 75, inclusive\n* Suspected (based on clinical presentation) or definite genetic mitochondrial disease diagnosis (i.e., genetic mutations in the constituents of the mitochondrial respiratory chain and\u002For genetic mutations that are likely to affect mitochondrial function)\n* 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.\n* Able to perform sub-maximal ankle dorsiflexion leg exercise during the MRI study\n\nInclusion Criteria (Healthy Controls):\n\n* Males and females, between the ages of 7 and 75 years, inclusive\n* Able to perform sub-maximal ankle dorsiflexion leg exercise during the MRI study\n\nInclusion Criteria (Evaluable Healthy Controls and Cases for Data Analysis):\n\n* 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.\n* Complete and evaluable healthy control and cases from IRB #15-012445, IRB #16-013364, and IRB #08-006177\n\nExclusion Criteria (Mitochondrial Disease Patients and Healthy Controls):\n\n* In the investigator's opinion, inability to fully comply with research procedures\n* Active alcohol and\u002For substance abuse, including tobacco-use\n* A pacemaker; any metal-based medical or non-medical devices\u002Fimplants; any non-removable metal-based object (e.g., body piercings, jewelry, etc.) that cannot be cleared through radiologic evaluation\n* Any history of intraocular injury or fragment in or around the orbit that cannot be cleared through radiologic evaluation\n* Any history of bullet, shrapnel, or stabbing wounds that cannot be cleared through radiologic evaluation\n* Past or current employment involving (or exposure to) a metal grinder (e.g., at a construction worksite)\n* Claustrophobia or any known medical conditions which can be exacerbated by stress, anxiety, or panic attacks triggered by enclosed spaces\n* Any potentially interfering clinical MRI contrast agents, as reviewed with the radiology team\n* At the discretion of the principal investigator (PI), any medical condition that will interfere with or prevent the safe completion of the study\n* 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.)\n* 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 (\\\u003C 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\u002For physical abilities to perform these procedures will not be included.\n\nExclusion Criteria (Healthy Controls)\n\n* Any history or genetic confirmation of mitochondrial disease",[77,78,79],"CHILD","ADULT","OLDER_ADULT",[81],{"facility":13,"city":82,"state":83,"zip":84,"country":85,"geoPoint":86},"Philadelphia","Pennsylvania","19104","United States",{"lat":87,"lon":88},39.95238,-75.16362,[],[91],{"name":92,"affiliation":93,"role":94},"Zarazuela Zolkipli Cunningham, MBChB MRCP","Children's Hospital of Phiadelphia","PRINCIPAL_INVESTIGATOR",[],[],{"nct_id":4,"conditions":98,"biomarkers":100},[99],"Mitochondrial disease",[101],"Mitochondrial DNA",{"nct_id":4,"found":103,"summary":104,"prompt_version":113},true,{"design":105,"status":106,"heading":6,"summary":107,"follow_up":108,"word_count":109,"commitments":110,"compensation":111,"drugs_mentioned":112},"This is an observational study with a planned enrollment of 230 participants. It is not specified if this study is randomized or blinded.","completed","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.","If eligible, you may have additional study-specific MRI assessments if you return to CHOP for future clinical imaging.",108,"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.","Not stated in the trial record.",[],"v2"]