Mitochondrial DiseaseNCT02154711
Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease
An observational study of Mitochondrial Disease, run by University of Pennsylvania at 1 site in United States.
Trial summary
The purpose of the study is to use a new research imaging technique, a kind of magnetic resonance imaging (MRI), to measure important metabolic features of muscle, including mitochondrial function, in people with mitochondrial disease and in healthy individuals. Read more about this study
- Who is it for?
- Ages 18 to 65 yearsHealthy volunteers can take part
- Conditions the study is for
- Mitochondrial Disease
- How many people
- 40 participants
- Where
- 1 siteUnited States
- Study dates
- May 2014to 30 Jun 2020
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 18 to 65 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Two groups of subjects: 1) mitochondrial disease and 2) healthy individuals
Who may be able to join
- Genetic diagnosis of mitochondrial disease
- Be able to perform sub-maximal leg exercise for several minutes
- Be able to provide written, informed consent
- Cognitively and medically stable and able to comply with study procedures
- Able to fast for 4 hours prior to blood draw and/or MRI scanning
- Be willing to stop taking any over-the-counter vitamins and supplements that are neither prescribed nor recommend by their physician for 2 weeks prior to MRI scanning
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- Be able to perform sub-maximal leg exercise for several minutes
- Be able to provide written, informed consent
- Cognitively and medically stable and able to comply with study procedures
- Able to fast for 4 hours prior to blood draw and/or MRI scanning
- Be willing to stop taking any over-the-counter vitamins and supplements that are neither prescribed nor recommend by their physician for 2 weeks prior to MRI scanning
Who cannot join
- Diabetes
- Alcohol/substance abuse
- Smoking
- Use of any investigational agents within 4 weeks of enrollment
- Any contraindication to MRI scanning
- Group 2) Healthy Individuals:
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- Carry a diagnosis of mitochondrial disease
- Have a first-degree relative with a diagnosis of mitochondrial disease
- Diabetes
- Alcohol/substance abuse
- Smoking
- Use of any investigational agents within 4 weeks of enrollment
- Any contraindication to MRI scanning
Trial locations and contacts
1 site in 1 country.
United States1 site
University of Pennsylvania
Philadelphia, Pennsylvania, 19004
About this study
The purpose of the study is to use a new research imaging technique, a kind of magnetic resonance imaging (MRI), to measure important metabolic features of muscle, including mitochondrial function, in people with mitochondrial disease and in healthy individuals. (Mitochondria are tiny organelles that generate energy for the body.)
It is hoped that this new strategy will help physicians to understand better the health problems of people with mitochondrial disease. Eventually, this could lead to better diagnostic and treatment approaches.
Read the detailed description
There are two study-related visits.
The first visit is a "screening" visit to ensure eligibility. This includes fasting blood tests. The second visit is an MRI scanning session. This also takes around 2 - 3 hours, with no more than 1.5 hours spent in the actual MRI machine. It may be possible to complete these two visits on the same day. Otherwise, the MRI session should occur within 3 months of the screening visit. In addition, an optional physical capacity visit will occur on the same day as the MRI session.
- Conditions
- Mitochondrial Disease
- Keywords
- mitochondrial disease, magnetic resonance imaging, magnetic resonance spectroscopy, creatine, phosphocreatine
- Medical subject headings
- Mitochondrial Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| Mitochondrial Disease | Individuals with genetic diagnoses (nuclear or mitochondrial) of mitochondrial disease | |
| Unaffected | Healthy individuals, without mitochondrial disease |
What is being measured
The primary outcome is the main question the study is designed to answer.
Creatine Recovery Time
Measured: 15 minutes
Secondary outcomes (1)
Phosphocreatine recovery time
Measured: 15 minutes
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Jun 2014 (estimated)
- Study startMay 2014
- Primary completion30 Jun 2020
- Study completion30 Jun 2020
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Mitochondrial DiseaseStudies of the same condition, open and under way.
- More trials run by University of PennsylvaniaThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Enrolment
- 40 participants (actual)
Sponsor and investigators
- Lead sponsor
- University of Pennsylvania
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Shana McCormack, University of Pennsylvania
- Investigators
- Shana E McCormack, MD, Principal investigator, University of Pennsylvania
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02154711
- Sponsor's protocol ID
- 819440
- Status last verified
- Aug 2024
- First submitted
- 29 May 2014
- Last updated
- 29 Aug 2024
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 29 Aug 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Magnetic Resonance Imaging (MRI) Muscle Phenotyping in Mitochondrial Disease
- ClinicalTrials.gov ID
- NCT02154711
- Acronym / sponsor ID
- 819440
- Conditions
- Mitochondrial Disease
- Keywords
- mitochondrial disease, magnetic resonance imaging, magnetic resonance spectroscopy, creatine, phosphocreatine
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 40 participants (actual)
- Lead sponsor
- University of PennsylvaniaUniversity, hospital or other
- Study start
- May 2014
- Primary completion
- 30 Jun 2020 (actual)
- Study completion
- 30 Jun 2020 (actual)
- First posted
- 3 Jun 2014 (estimated)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The purpose of the study is to use a new research imaging technique, a kind of magnetic resonance imaging (MRI), to measure important metabolic features of muscle, including mitochondrial function, in people with mitochondrial disease and in healthy individuals. (Mitochondria are tiny organelles that generate energy for the body.)
It is hoped that this new strategy will help physicians to understand better the health problems of people with mitochondrial disease. Eventually, this could lead to better diagnostic and treatment approaches.
Detailed description
There are two study-related visits.
The first visit is a "screening" visit to ensure eligibility. This includes fasting blood tests. The second visit is an MRI scanning session. This also takes around 2 - 3 hours, with no more than 1.5 hours spent in the actual MRI machine. It may be possible to complete these two visits on the same day. Otherwise, the MRI session should occur within 3 months of the screening visit. In addition, an optional physical capacity visit will occur on the same day as the MRI session.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Mitochondrial Disease | – | –Individuals with genetic diagnoses (nuclear or mitochondrial) of mitochondrial disease |
| Unaffected | – | –Healthy individuals, without mitochondrial disease |
Who may qualify
- Ages
- 18 to 65 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Two groups of subjects: 1) mitochondrial disease and 2) healthy individuals
Key inclusion criteria (11 listed)
- Genetic diagnosis of mitochondrial disease
- Be able to perform sub-maximal leg exercise for several minutes
- Be able to provide written, informed consent
- Cognitively and medically stable and able to comply with study procedures
- Able to fast for 4 hours prior to blood draw and/or MRI scanning
Key exclusion criteria (13 listed)
- Diabetes
- Alcohol/substance abuse
- Smoking
- Use of any investigational agents within 4 weeks of enrollment
- Any contraindication to MRI scanning
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Creatine Recovery Time
Time frame: 15 minutes
1 secondary outcome
Phosphocreatine recovery time
Time frame: 15 minutes
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 29 Aug 2024.
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Shana E McCormack, MD principal investigator
University of Pennsylvania
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Mitochondrial Disease, run by University of Pennsylvania at 1 site in United States.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 11 inclusion and 13 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 29 Aug 2024. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in United States. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Creatine Recovery Time (time frame: 15 minutes). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 29 Aug 2024.