An observational study in Mitochondrial Myopathies, Mitochondrial DNA Mutation and Mitochondrial Diseases, sponsored by Mayo Clinic. Completed at 1 site in United States. Open to participants aged 15 Years to 80 Years. Per ClinicalTrials.gov, last updated 2024-06-12.
Sponsored by Mayo Clinic · Observational
Among 19 studies in Mitochondrial Myopathies with a site in United States — 6 open to participants now, 8 under way, none of them phase 3. Mitochondrial Myopathies · United States.
Among the 19 studies in Mitochondrial Myopathies with a site in United States, this one is one of 2 that started in 2022, is one of 7 observational ones, and was the 12th registered.
46 studies on the registry are indexed under Mitochondrial Myopathies; 14 are open to participants now.
Browse Mitochondrial Myopathies studies →6 of the 19 studies in Mitochondrial Myopathies with a site in United States are open now. Recruiting first, the newest first:
The POLG Foundation · Sites in United States, Australia, Denmark and 6 more countries
Children's Hospital of Philadelphia · Sites in United States
Ages 18–65 · Healthy volunteers
Children's Hospital of Philadelphia · Sites in United States
Ages 10–60 · Healthy volunteers
Children's Hospital of Philadelphia · Sites in United States
Ages 18–65 · Healthy volunteers
Children's Hospital of Philadelphia · Sites in United States
Ages 0–100 · Healthy volunteers
A study can be open while its sites in United States have not opened yet or have stopped. Only those recruiting at a site in United States →
Of the 13 Mitochondrial Myopathies studies recruiting now, 8 (62%) set no upper age limit and 4 (31%) stop at 75 or younger; 6 take children under 18; 6 take healthy volunteers.
This study: 15 Years to 80 Years · all sexes · no healthy volunteers.
The full table on the hub →This tab as a report to print or save as PDF → With an account.
19 studies; the count open now beside each. This study's row is marked.
A study in two phases is counted once above. Listed by phase, each with its combined phases: Phase 1 5 · Phase 2 7 · Phase 3 1
First in 1978; this study’s year is marked. 2 started in 2022.
By drug class, each counting the studies that test any of its medicines:
This study's enrollment of 9 is below the median of 42 across 15 observational studies indexed under Mitochondrial Myopathies.
Median enrollment 50 across the 12 interventional studies, 215 across the 7 observational. Of the 10 that completed or were terminated, 4 (40%) have results posted.
This tab as a report to print or save as PDF → With an account.
6 of 19 have an industry lead sponsor. The 10 most frequent:
Mayo Clinic is the lead sponsor of 3,269 studies on the registry; 672 are open to participants now.
Of its 452 completed or terminated interventional studies of FDA-regulated products, 321 (71%) have results posted.
Mayo Clinic has 1 study filed under Mitochondrial Myopathies — fewer than ten, so there is no comparison to draw.
5 of the studies in Mitochondrial Myopathies with a site in United States that are under way reach primary completion within a year, 0 of them phase 3. Phase 3 first, then by date:
| Study | Primary completion |
|---|---|
| NCT05590468Ralitza GavrilovaA Study to Evaluate Vitamin B3 Derivative to Treat Mitochondrial Myopathy | 2026-11 |
| NCT01694940Columbia UniversityNorth American Mitochondrial Disease Consortium Patient Registry and Biorepository (NAMDC) | 2026-12-31 |
| NCT04086329Children's Hospital of PhiladelphiaValidation of Oxygen Nanosensor in Mitochondrial Myopathy | 2027-08-01 |
| NCT06819683Children's Hospital of PhiladelphiaValidation of Nanosensor Oxygen Measurement | 2027-09 |
| NCT05569122Children's Hospital of PhiladelphiaApplying pGz in Mitochondrial Disease | 2027-09 |
Among the 19 studies in Mitochondrial Myopathies with a site in United States, from their registry updates:
This tab as a report to print or save as PDF → With an account.
This study is an observational longitudinal study involving the use of MRIs and video recordings taken at home of patients completing basic tasks. Once consent is obtained, subjects will be asked to schedule an appointment with radiology to undergo the listed MRIs of the heart and/or muscle. Subjects will also be given instructions on how to use the video recording app on their personal devices, or study provided device. The subjects will be followed regularly over the course of two years, submitting video recordings of their movements and reporting to Mayo Clinic for MRIs as scheduled.
Mitochondrial myopathy follows a slowly progressive disease course of gradual worsening of muscle weakness and fatigability. Progressive mitochondrial dysfunction is thought to result in structural muscle deterioration (eventually muscle fiber atrophy/necrosis) and underlie these symptoms. Therefore, the study hypothesis is that longitudinal imaging of muscle will capture mitochondrial (using muscle MRS) and structural (using muscle MRI) abnormalities to inform objectively disease progression by capturing structural and biochemical changes in muscle over time.
Conventional multivariate analysis tools such as partial least squares-discriminant analysis (PLS-DA) and principal component analysis (PCA) will be used to assess variables of importance in discrimination of 3 subgroups based on underlying molecular defect (mitochondrial DNA (mtDNA) mutations and deletions, and nuclear gene mutations (nDNA)).
This will be followed by implementation of Collaborative Laboratory Integrated Reports (CLIR) software, a multivariate pattern recognition software that generates post-analytical interpretive tools. This study proposes to quantitatively measure MRS analytes (i.e. lactate, adenosine triphosphate (ATP), etc.) and structural muscle changes by MRI (edema, fat content, etc.). The capability for interactive data analysis would be necessary because of the nature of mitochondrial myopathy (MM) progression. One of the functionalities of CLIR is the creation of post-analytical tools applicable to either diagnosis of one condition - single condition tool; or differential diagnosis between two conditions with overlapping phenotypes (mtDNA deletions, mtDNA mutations, nDNA mutations) - dual scatter plots. The advantages of CLIR are (1) integration of primary markers with all informative permutations of ratios/biomarkers. Ratios calculated between markers not directly related at the biochemical level are particularly helpful to correct for pre-analytical factors and potential analytical bias (2) adjusted for multiple covariates (age, sex) (3) generating individual plots of disease progression.
This study is an observational longitudinal study involving the use of MRIs and video recordings taken at home of patients completing basic tasks. Subjects will be approached at outpatient appointments, or via phone/mail. Once consent is obtained, subjects will be asked to schedule an appointment with radiology to undergo the listed MRIs of the heart and/or muscle. Subjects will also be given instructions on how to use the video recording app on their personal devices, or study provided device. The subjects will be followed regularly over the course of two years, submitting video recordings of their movements and reporting to Mayo Clinic for MRIs as scheduled. Patients may withdraw from the study at any time without repercussion.
All participants in the study should have genetic confirmation or muslce biopsy confirmation along with supporting clinical features of mitochondrial disease with weakness in muscle.
Go through the criteria one by one — yes, no or not sure — and take the list to your doctor or the study team. Kept in this browser only.
Exclusion Criteria:
Underlined terms in the criteria open these too. Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Biopsy and archival tissue
A biopsy takes a small piece of tissue to examine. “Archival tissue” is a sample already taken, for example at diagnosis, and kept by the hospital.
Whether a stored sample will do depends on when it was taken, how much there is and what the study needs. Ask whether the study accepts your stored sample or needs a new biopsy.
Explained by clinicaltrials.gg, not part of the registry record. The study team decides who can take part.
no intervention
Indicators of disease severity and progression - cardiac movement
Establish the prevalence and severity of specific morbid indicators of disease severity through use of echocardiogram
Time frame: 2 years
Indicators of disease severity and progression - cardiac function
Establish the prevalence and severity of specific morbid indicators of disease severity through use of magnetic resonance imaging (MRI) of cardiac muscle
Time frame: 2 years
Indicators of disease severity and progression - skeletal muscle function
Establish the prevalence and severity of specific morbid indicators of disease severity through use of magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) of skeletal muscle
Time frame: 2 years
Indicators of disease severity and progression - skeletal muscle movement
Establish the prevalence and severity of specific morbid indicators of disease severity through use of video scoring scale during exercise
Time frame: 2 years
Plan to share: No
No publications or documents are linked to this record.
Ran from May 2022 to primary completion in Jan 2024, 20 months.
How these figures are worked out, and which studies are left out of them.
This study is completed, as verified in Jun 2024. You cannot join it, but the record below documents what was studied.
Get an email when the registry record changes — status, dates, results — or when someone posts here.
Sign in to followQuestions and observations about this study, from anyone following it. Not medical advice, and not a channel to the study team — their contact details are on the registry record.
Sign in to join the discussion. Reading takes no account; posting does. You choose a display name, and a pseudonym is the default.
Nothing here yet. If you are running this trial, taking part in it, or weighing whether to, this is the place to say so.