Muscular Dystrophy, DuchenneNCT02834650
Validating Cardiac MRI Biomarkers and Genotype-Phenotype Correlations for DMD
A study testing Cardiac MRI with contrast, Cardiac MRI without contrast and Blood Test in people with Muscular Dystrophy, Duchenne, run by Stanford University at 3 sites in United States.
Trial summary
This study will collect MRI from healthy volunteer boys and boys with Duchenne Muscular Dystrophy (DMD) to help researchers identify and validate cardiac MRI biomarkers to better understand the health of the heart and changes in heart health over time in boys with DMD. Read more about this study
- Who is it for?
- Ages 7 to 21 years, men onlyHealthy volunteers can take part
- Conditions the study is for
- Muscular Dystrophy, Duchenne
- What is being tested?
- Cardiac MRI with contrast, Cardiac MRI without contrast and Blood Test
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 89 participants
- Where
- 3 sitesUnited States
- Study dates
- 1 Feb 2017to 30 Mar 2022
- Phase
- Interventional
- 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 7 to 21 years
- Men only
- Healthy volunteers accepted
- Child, Adult
Who may be able to join
- Healthy boys or pediatric patients with DMD age 7 to 21
- Able \& willing to complete an approximately 75-minute (or less) MRI exam without sedation or mechanical ventilation
- Drug regimen (if applicable) stable for at least 3 months prior to participation
Who cannot join
- Renal insufficiency (GFR<40 mL/min/m2)
- Non-MRI compatible implants (e.g. neurostimulator, pacemaker, implanted cardioverter defibrillator)
- Claustrophobia that prevents an MRI exam
- Known allergy to MRI contrast agents
- Serum potassium level of >5.0 mmol/L
- Signs and symptoms of heart failure
Trial locations and contacts
3 sites in 1 country.
United States3 sites
University of California, Los Angeles
Los Angeles, California, 90024
Children's Hospital of Orange County
Orange, California, 92868
Stanford University
Stanford, California, 94305
About this study
Official title: Validating Cardiac MRI Biomarkers and Genotype-Phenotype Correlations for Duchenne Muscular Dystrophy (DMD)
This study will collect MRI from healthy volunteer boys and boys with Duchenne Muscular Dystrophy (DMD) to help researchers identify and validate cardiac MRI biomarkers to better understand the health of the heart and changes in heart health over time in boys with DMD.
Currently, there is a lack of sufficiently well characterized cardiac MRI biomarkers that can serve as endpoints for detecting on-target and/or off-target cardiac effects during clinical drug trials for boys with DMD.
Consequently, the first objective is to identify and characterize several cardiac MRI biomarkers for boys with DMD.
Read the detailed description
The second objective is to use their well-characterized cardiac MRI biomarkers and define their sensitivity for detecting early cardiac involvement. The final objective is to use these validated cardiac MRI biomarkers to better understand the genotype-phenotype correlation in boys with DMD, which to date remain tenuous. The investigators propose a pilot study to explore cardiac genotype-phenotype correlations in boys with DMD and outlier phenotypes using approaches they have pioneered for skeletal muscle.
- Conditions
- Muscular Dystrophy, Duchenne
- Being tested
- Cardiac MRI with contrast, Cardiac MRI without contrast, Blood Test, Heart Rate, Pulmonary Function Test
- Medical subject headings
- Muscular Dystrophy, Duchenne
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Cardiac MRI with contrastOther
Cardiac MRI
Cardiac MRI without contrastOther
Cardiac MRI
Blood TestOther
Hematocrit, Creatinine, Troponin, BNP
Heart RateOther
Holter Monitor
Pulmonary Function TestOther
Pulmonary Function Test
Genetic TestingOther
Genetic Testing
Repeat MRI scanOther
Repeat MRI scan
| Study group | Role | What they receive |
|---|---|---|
| Group 1a | Experimental | Group 1a comprises healthy volunteers who will complete a Cardiac MRI without contrast. A subset of healthy volunteers will have a repeat MRI at Children's Hospital of Orange County. Receives: Other: Cardiac MRI without contrast; Other: Repeat MRI scan |
| Group 1b | Experimental | Group 1b comprises boys with DMD who will complete a Cardiac MRI with contrast, a blood test, a heart rate test and a pulmonary function test.
A subset of boys with DMD will have a repeat MRI with contrast at Children's Hospital of Orange County. Receives: Other: Cardiac MRI with contrast; Other: Blood Test; Other: Heart Rate; Other: Pulmonary Function Test; Other: Genetic Testing; Other: Repeat MRI scan |
| Group 2 | Experimental | Group 2 comprises boys with DMD who will complete a Cardiac MRI with contrast, a blood test, a heart rate test and a pulmonary function test and a repeat MRI scan with contrast at 6 Months. Receives: Other: Cardiac MRI with contrast; Other: Blood Test; Other: Heart Rate; Other: Pulmonary Function Test; Other: Genetic Testing; Other: Repeat MRI scan |
| Group 3 | Experimental | Group 3 comprises boys with DMD who will complete a Cardiac MRI with contrast, a blood test, a heart rate test and a pulmonary function test and a genetic testing. Receives: Other: Cardiac MRI with contrast; Other: Blood Test; Other: Heart Rate; Other: Pulmonary Function Test; Other: Genetic Testing |
What is being measured
The primary outcome is the main question the study is designed to answer.
Myocardial Tissue Characterization
Focal and diffuse fibrosis, intra myocardial fat, edema plus water mobility
Measured: 6 months
Myocardial Functional Characterization
Strain imaging and rotational mechanics
Measured: 6 months
Genomic Analysis
Proposing mechanisms of cardiac dysfunction or protective phenotypes using genomic analysis
Measured: 4 years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted15 Jul 2016 (estimated)
- Study start1 Feb 2017
- Primary completion30 Mar 2022
- Study completion30 Mar 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Muscular Dystrophy, DuchenneStudies of the same condition, open and under way.
- More trials run by Stanford UniversityThe 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 89 participants (actual)
Sponsor and investigators
- Lead sponsor
- Stanford University
- Sponsor type
- University, hospital or other
- Collaborators
- National Institutes of Health (NIH), Children's Hospital of Orange County, National Heart, Lung, and Blood Institute (NHLBI), University of California, Los Angeles
- Responsible party
- Principal investigator, Daniel Ennis, Stanford University
- Investigators
- Daniel Ennis, PhD, Principal investigator, Stanford University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02834650
- Sponsor's protocol ID
- DMD2016
- Other IDs
- 1R01HL131975-01
- Status last verified
- May 2022
- First submitted
- 13 Jul 2016
- Last updated
- 10 May 2022
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 10 May 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Validating Cardiac MRI Biomarkers and Genotype-Phenotype Correlations for Duchenne Muscular Dystrophy (DMD)
- ClinicalTrials.gov ID
- NCT02834650
- Acronym / sponsor ID
- DMD2016
- Conditions
- Muscular Dystrophy, Duchenne
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 89 participants (actual)
- Lead sponsor
- Stanford UniversityUniversity, hospital or other
- Collaborators
- National Institutes of Health (NIH), Children's Hospital of Orange County, National Heart, Lung, and Blood Institute (NHLBI), University of California, Los Angeles
- Study start
- 1 Feb 2017 (actual)
- Primary completion
- 30 Mar 2022 (actual)
- Study completion
- 30 Mar 2022 (actual)
- First posted
- 15 Jul 2016 (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.
This study will collect MRI from healthy volunteer boys and boys with Duchenne Muscular Dystrophy (DMD) to help researchers identify and validate cardiac MRI biomarkers to better understand the health of the heart and changes in heart health over time in boys with DMD.
Currently, there is a lack of sufficiently well characterized cardiac MRI biomarkers that can serve as endpoints for detecting on-target and/or off-target cardiac effects during clinical drug trials for boys with DMD.
Consequently, the first objective is to identify and characterize several cardiac MRI biomarkers for boys with DMD.
Detailed description
The second objective is to use their well-characterized cardiac MRI biomarkers and define their sensitivity for detecting early cardiac involvement. The final objective is to use these validated cardiac MRI biomarkers to better understand the genotype-phenotype correlation in boys with DMD, which to date remain tenuous. The investigators propose a pilot study to explore cardiac genotype-phenotype correlations in boys with DMD and outlier phenotypes using approaches they have pioneered for skeletal muscle.
Study design
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Group 1a | Experimental | Other: Cardiac MRI without contrast, Other: Repeat MRI scanGroup 1a comprises healthy volunteers who will complete a Cardiac MRI without contrast. A subset of healthy volunteers will have a repeat MRI at Children's Hospital of Orange County. |
| Group 1b | Experimental | Other: Cardiac MRI with contrast, Other: Blood Test, Other: Heart Rate, Other: Pulmonary Function Test, Other: Genetic Testing, Other: Repeat MRI scanGroup 1b comprises boys with DMD who will complete a Cardiac MRI with contrast, a blood test, a heart rate test and a pulmonary function test. A subset of boys with DMD will have a repeat MRI with contrast at Children's Hospital of Orange County. |
| Group 2 | Experimental | Other: Cardiac MRI with contrast, Other: Blood Test, Other: Heart Rate, Other: Pulmonary Function Test, Other: Genetic Testing, Other: Repeat MRI scanGroup 2 comprises boys with DMD who will complete a Cardiac MRI with contrast, a blood test, a heart rate test and a pulmonary function test and a repeat MRI scan with contrast at 6 Months. |
| Group 3 | Experimental | Other: Cardiac MRI with contrast, Other: Blood Test, Other: Heart Rate, Other: Pulmonary Function Test, Other: Genetic TestingGroup 3 comprises boys with DMD who will complete a Cardiac MRI with contrast, a blood test, a heart rate test and a pulmonary function test and a genetic testing. |
Who may qualify
- Ages
- 7 to 21 years
- Sex
- Male only
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
Key inclusion criteria (3 listed)
- Healthy boys or pediatric patients with DMD age 7 to 21
- Able \& willing to complete an approximately 75-minute (or less) MRI exam without sedation or mechanical ventilation
- Drug regimen (if applicable) stable for at least 3 months prior to participation
Key exclusion criteria (6 listed)
- Renal insufficiency (GFR<40 mL/min/m2)
- Non-MRI compatible implants (e.g. neurostimulator, pacemaker, implanted cardioverter defibrillator)
- Claustrophobia that prevents an MRI exam
- Known allergy to MRI contrast agents
- Serum potassium level of >5.0 mmol/L
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 |
|---|---|---|
| Cardiac MRI with contrastCardiac MRI | Other | Group 1b, Group 2, Group 3 |
| Cardiac MRI without contrastCardiac MRI | Other | Group 1a |
| Blood TestHematocrit, Creatinine, Troponin, BNP | Other | Group 1b, Group 2, Group 3 |
| Heart RateHolter Monitor | Other | Group 1b, Group 2, Group 3 |
| Pulmonary Function TestPulmonary Function Test | Other | Group 1b, Group 2, Group 3 |
| Genetic TestingGenetic Testing | Other | Group 1b, Group 2, Group 3 |
| Repeat MRI scanRepeat MRI scan | Other | Group 1a, Group 1b, Group 2 |
Primary outcome
Myocardial Tissue Characterization
Time frame: 6 months
Focal and diffuse fibrosis, intra myocardial fat, edema plus water mobility
Myocardial Functional Characterization
Time frame: 6 months
Strain imaging and rotational mechanics
Genomic Analysis
Time frame: 4 years
Proposing mechanisms of cardiac dysfunction or protective phenotypes using genomic analysis
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 10 May 2022.
Related trials for Muscular Dystrophy, Duchenne
RecruitingEarly Phase 1
Safety and Dystrophin Expression of SPOT-03 in Duchenne Muscular Dystrophy (DMD) Patients
Duchenne Muscular Dystrophy (DMD)
RecruitingPhase 2
Safety and Efficacy of KER-065 in Participants With Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy
Not yet recruitingPhase 2
A Phase 2 Trial to Investigate the Efficacy, Safety, Tolerability, Pharmacokinetics and Pharmacodynamics of Tegacorat in Male Participants 4 to <7 Years of Age With Duchenne Muscular Dystrophy
Duchenne Muscular Dystrophy (DMD)
Not yet recruitingObservational study
Multimodal Study About Absence of Dp140 in Becker Muscular Dystrophy: Brain-muscle Imaging, Cognition and Muscle Function
Becker Muscular Dystrophy
Enrolling by invitationObservational study
A Long-term Observational Study Evaluating Eteplirsen, Golodirsen, or Casimersen in Routine Clinical Practice
Duchenne Muscular Dystrophy
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.
Daniel Ennis, PhD principal investigator
Stanford University
3 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Cardiac MRI with contrast, Cardiac MRI without contrast and Blood Test in people with Muscular Dystrophy, Duchenne, run by Stanford University at 3 sites 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 3 inclusion and 6 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 10 May 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 3 sites 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?
Myocardial Tissue Characterization (time frame: 6 months). 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?
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 10 May 2022.