Mitochondrial MyopathiesNCT03513835
Diagnostic Screening Tests and Potential Biomarkers in Mitochondrial Myopathies
An observational study of Mitochondrial Myopathies and Healthy Controls, run by Copenhagen University Hospital, Rigshospitalet at 1 site in Denmark.
Trial summary
The purpose of this study is to develop simple diagnostic screeningtests and investigate potential biomarkers for identifying patients with abnormalities of mitochondrial function, which also can be used as outcome measures in future clinical trials. Read more about this study
- Who is it for?
- Ages 18 to 75 yearsHealthy volunteers can take part
- Conditions the study is for
- Mitochondrial Myopathies, Healthy Controls
- What is being tested?
- Diagnostic screenings tests
- How many people
- 50 participants
- Where
- 1 siteDenmark
- Study dates
- 1 Jan 2018to 1 Jan 2019
- 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 75 years
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Genetically verified primary Mitochondrial disorder with myopathy.
Who may be able to join
- age 18-75
- verified mitochondrial myopathy
- or healthy control
- or disease control (another neuromuscular disease)
Who cannot join
- Patient has any prior or current medical conditions that, in the judgment of the Investigator, would prevent the patient from safely participating in and/or completing all study requirements.
- Patient has symptoms of mitochondrial myopathy due to known secondary mitochondrial dysfunction
- Patient does not have the cognitive capacity to understand/comprehend and complete all study assessments.
- Pregnancy or breastfeeding.
Trial locations and contacts
1 site in 1 country.
About this study
The purpose of this study is to develop simple diagnostic screeningtests and investigate potential biomarkers for identifying patients with abnormalities of mitochondrial function, which also can be used as outcome measures in future clinical trials. The study will investigate two submaximal tests: a submaximal handgrip test and a walking test. Furthermore investigators will investigate Acyl-carnitine profiles and GDF-15 levels in patients with mitochondrial myopathy.
- Conditions
- Mitochondrial Myopathies, Healthy Controls
- Being tested
- Diagnostic screenings tests
- Medical subject headings
- Mitochondrial Myopathies
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Diagnostic screenings testsDiagnostic test
Handgrip test, 12-minute walk test and 6-minute walk test. Biomarkers: acyl-carnitine profile and GDF-15.
| Study group | Role | What they receive |
|---|---|---|
| Mitochondrial myopathy | Not described Receives: Diagnostic Test: Diagnostic screenings tests | |
| Healthy controls | Not described Receives: Diagnostic Test: Diagnostic screenings tests |
What is being measured
The primary outcome is the main question the study is designed to answer.
Serum lactate / pyruvate ratio
Changes between: before, during and after submaximal exercise
Measured: 1 hour
Serum Acyl-carnitine levels
Changes between: before and after exercise, fasted and fed.
Measured: 1 hour
Serum GDF-15
Changes between: before and after exercise, fasted and fed.
Measured: 1 hour
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 May 2018
- Study start1 Jan 2018
- Primary completion1 Jan 2019
- Study completion1 Jan 2019
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Mitochondrial MyopathiesStudies of the same condition, open and under way.
- More trials run by Copenhagen University Hospital, RigshospitaletThe 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
- 50 participants (actual)
Sponsor and investigators
- Lead sponsor
- Copenhagen University Hospital, Rigshospitalet
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Nicoline Løkken, Copenhagen University Hospital, Rigshospitalet
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT03513835
- Sponsor's protocol ID
- H-17032512
- Status last verified
- Feb 2023
- First submitted
- 15 Jan 2018
- Last updated
- 14 Feb 2023
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Lokken N, Skriver SV, Khawajazada T, Storgaard JH, Vissing J. Plasma lactate responses during and after submaximal handgrip exercise are not diagnostically helpful in mitochondrial myopathy. Mitochondrion. 2021 Sep;60:21-26. doi: 10.1016/j.mito.2021.07.002. Epub 2021 Jul 15.
PubMed 34273558
Study at a glance
From the registry record, last updated by the sponsor on 14 Feb 2023. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Diagnostic Screening Tests and Potential Biomarkers in Mitochondrial Myopathies
- ClinicalTrials.gov ID
- NCT03513835
- Acronym / sponsor ID
- H-17032512
- Conditions
- Mitochondrial Myopathies, Healthy Controls
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 50 participants (actual)
- Lead sponsor
- Copenhagen University Hospital, RigshospitaletUniversity, hospital or other
- Study start
- 1 Jan 2018 (actual)
- Primary completion
- 1 Jan 2019 (actual)
- Study completion
- 1 Jan 2019 (actual)
- First posted
- 2 May 2018 (actual)
- 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 this study is to develop simple diagnostic screeningtests and investigate potential biomarkers for identifying patients with abnormalities of mitochondrial function, which also can be used as outcome measures in future clinical trials. The study will investigate two submaximal tests: a submaximal handgrip test and a walking test. Furthermore investigators will investigate Acyl-carnitine profiles and GDF-15 levels in patients with mitochondrial myopathy.
Study design
- Observational model
- Case-control
- Time perspective
- Cross-sectional
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Mitochondrial myopathy | – | Diagnostic Test: Diagnostic screenings tests |
| Healthy controls | – | Diagnostic Test: Diagnostic screenings tests |
Who may qualify
- Ages
- 18 to 75 years
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Genetically verified primary Mitochondrial disorder with myopathy.
Key inclusion criteria (4 listed)
- age 18-75
- verified mitochondrial myopathy
- or healthy control
- or disease control (another neuromuscular disease)
Key exclusion criteria (4 listed)
- Patient has any prior or current medical conditions that, in the judgment of the Investigator, would prevent the patient from safely participating in and/or completing all study requirements.
- Patient has symptoms of mitochondrial myopathy due to known secondary mitochondrial dysfunction
- Patient does not have the cognitive capacity to understand/comprehend and complete all study assessments.
- Pregnancy or breastfeeding.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Diagnostic screenings testsHandgrip test, 12-minute walk test and 6-minute walk test. Biomarkers: acyl-carnitine profile and GDF-15. | Diagnostic test | Healthy controls, Mitochondrial myopathy |
Primary outcome
Serum lactate / pyruvate ratio
Time frame: 1 hour
Changes between: before, during and after submaximal exercise
Serum Acyl-carnitine levels
Time frame: 1 hour
Changes between: before and after exercise, fasted and fed.
Serum GDF-15
Time frame: 1 hour
Changes between: before and after exercise, fasted and fed.
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 14 Feb 2023.
- Derived from this study: PubMed 34273558Lokken N, Skriver SV, Khawajazada T, Storgaard JH, Vissing J. Plasma lactate responses during and after submaximal handgrip exercise are not diagnostically helpful in mitochondrial myopathy. Mitochondrion. 2021 Sep;60:21-26. doi: 10.1016/j.mito.2021.07.002. Epub 2021 Jul 15.
- Individual participant dataSharing planned: No
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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.
The record lists no contact. Use the official record to reach the sponsor.
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 Myopathies and Healthy Controls, run by Copenhagen University Hospital, Rigshospitalet at 1 site in Denmark.
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 4 inclusion and 4 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 14 Feb 2023. 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 Denmark. 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?
Serum lactate / pyruvate ratio (time frame: 1 hour). The study lists 3 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT03513835, which also lists 1 linked publication.
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 14 Feb 2023.