Clinical Trial Details
— Status: Completed
Administrative data
NCT number |
NCT05012358 |
Other study ID # |
20-002721 |
Secondary ID |
|
Status |
Completed |
Phase |
|
First received |
|
Last updated |
|
Start date |
May 1, 2022 |
Est. completion date |
January 22, 2024 |
Study information
Verified date |
June 2024 |
Source |
Mayo Clinic |
Contact |
n/a |
Is FDA regulated |
No |
Health authority |
|
Study type |
Observational
|
Clinical Trial Summary
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.
Description:
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.