Duchenne Muscular DystrophyNCT02972580
Characterization of Clinical Skeletal and Cardiac Impairment in Carriers of DMD and BMD
An observational study of Duchenne Muscular Dystrophy and Becker Muscular Dystrophy, run by Nationwide Children's Hospital at 1 site in United States.
Trial summary
Longitudinal prospective observational study. This is a 24-month study with the possibility of extending the data time points. Initially baseline, then 12 and 24 months follow up studies will be completed. Read more about this study
- Who is it for?
- Ages 18 years and older, women onlyHealthy volunteers can take part
- Conditions the study is for
- Duchenne Muscular Dystrophy, Becker Muscular Dystrophy
- What is being tested?
- Genetic characterization
- How many people
- 250 participants
- Where
- 1 siteUnited States
- Study dates
- Jun 2016to Dec 2030
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
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 years and older
- Women only
- Healthy volunteers accepted
- Adult, Older adult
Study population: Cohort A: DMD/BMD Female Carriers who have/had an affected child (n=150) Cohort B: DMD/BMD Female non-carriers controls who have/had an affected child (n=50) Cohort C: Healthy Age-Matched Controls (n=50) Cohort D: DMD/BMD Female Carriers who do not have/had an affected child (n=25)
Who may be able to join
- Age >18 years
- Cohort A requires a genetically confirmed mutation in the DMD gene with an affected child
- Cohort B includes DMD/BMD mothers with NO somatic mutation in the DMD gene
- Cohort C age-matched healthy controls with a normal CK level
- Cohort D requires a genetically confirmed mutation in the DMD gene without an affected child
- Able to complete testing in English
- Able to consent
Who cannot join
- Subjects with a contraindication to cardiac or skeletal muscle MRI
- Subjects on heart failure medication at time of enrollment
- Subjects on steroid treatment
- Presence of an inherited neurologic disease or comorbidity that may affect their ability to complete this study
- Has a medical condition or extenuating circumstance that, in the opinion of the investigator, might compromise the subject's ability to comply with the protocol required testing or procedures or compromise the subject's wellbeing, safety, or clinical interpretability
Trial locations and contacts
1 site in 1 country.
United States1 site
Nationwide Children's Hosptial
Columbus, Ohio, 43205
About this study
Official title: Characterization of Clinical Skeletal and Cardiac Impairment in Carriers of Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD)
Longitudinal prospective observational study. This is a 24-month study with the possibility of extending the data time points. Initially baseline, then 12 and 24 months follow up studies will be completed.
Read the detailed description
Four cohorts are enrolled in this study. The target population is the cohort of genetically confirmed DMD/BMD female carriers (Cohort A). This cohort will consist of 150 DMD/BMD mothers who are somatic carriers of a mutation in the DMD gene. The data collected for this cohort will be compared to three control groups; Control Group B is a cohort of 50 DMD/BMD mothers who are NOT somatic carriers, Control Group C is a cohort of 50 age-matched healthy controls and Control Group D is a cohort of 25 genetically confirmed carriers who do not have an affected child. The inclusion of a Control Group B allows for a comparison to a group of mothers that share the emotional and cognitive burden of caring for an affected male without having the physical or cognitive risks of being a female carrier. The Control Group C offers robust data from an age-matched healthy cohort for purposes of comparison. Control Group D allows for comparison to a group of women that have the same physical or cognitive risks as the Cohort A female carriers, but do not have the same burden of care giving.
- Being tested
- Genetic characterization
- 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.
Genetic characterizationGenetic
Confirmatory genetic testing for mutation in DMD gene (Carrier Status) for subjects in respective Cohorts
| Study group | Role | What they receive |
|---|---|---|
| Cohort A | DMD/BMD Female Carriers who have/had an affected child (n=150) Receives: Genetic: Genetic characterization | |
| Cohort B | DMD/BMD Female non-carriers controls who have/had an affected child (n=50) Receives: Genetic: Genetic characterization | |
| Cohort C | Healthy Age-Matched Controls (n=50) Receives: Genetic: Genetic characterization | |
| Cohort D | DMD/BMD Female Carriers with no affected children (n=25) Receives: Genetic: Genetic characterization |
What is being measured
The primary outcome is the main question the study is designed to answer.
Compromise of cardiac function based on Cardiac Magnetic Resonance Imaging
Cardiac function as compromised by evidence of scarring of cardiac muscles, particularly of the base of the left ventricle via cardiac MRI studies with gadolinium contrast.
Measured: 2 years
Secondary outcomes (12)
Cardiac Function Assessment Treadmill SVO2
Stress on heart muscle measured by SVO2 (percentage of oxygen saturation in the blood of the pulmonary artery). SVO2 represents an average of all the venous oxygen saturation of major organs and tissues. This measure provides assessment of cardiopulmonary function and helps measure the degree of cardiac instability and can be an indicator of deterioration from normal.
Measured: 2 years
Physical Therapy Assessments Maximum Voluntary Isometric Contraction Testing
MVICT measures strength of skeletal muscles by assessing the force generated by by individual muscles. The results can be compared to norms and deterioration can be assessed over time.
Measured: 2 Years
Physical Therapy Assessments 6 Minute Walk Test
A timed test to assess distance walked in 6 minutes is very quantitative and can be assessed in comparison to normal controls. Deterioration over time can be clearly measured.
Measured: 2 years
Physical Therapy Assessments ACTIVE-seated
Exploratory outcome quantifying upper extremity reaching ability using a custom-designed game telling how far the arm reaches in comparison to overall functional ability of the individual ability.
Measured: 2 Years
Physical Therapy Assessments Time-to-Rise
A timed-test to measure ability to rise from the floor is quantifiable and measuring over time tells if there is loss of function.
Measured: 2 Years
Laboratory biomarkers - Creatine Kinase
CK levels are an indicator of muscle breakdown.
Measured: 2 Years
Laboratory biomarkers - C-Reactive Protein
Pro-inflammatory marker indicating the degree of inflammation of muscle when there is muscle breakdown.
Measured: 2 Years
Laboratory biomarkers - Interleukin-6
Pro-inflammatory marker indicating the degree of inflammation of muscle when there is muscle breakdown.
Measured: 2 Years
Laboratory biomarkers - Cortisol levels
Hair cortisol levels measure stress levels as a means of understanding coping with disease.
Measured: 2 Years
Cognitive Assessment
Cognitive function measured by Wechsler Abbreviated Scale of Intelligence (WASI) provides a possible tool to measure disease awareness and establish if IQ level correlates with disease-related stress.
Measured: 2 Years
Caregiver Stress
Online self-report survey to assess stress burden on caregiver.
Measured: 2 Years
Pulmonary function testing (PFTs)
Stable or improved FVC
Measured: 2 Years
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted23 Nov 2016 (estimated)
- Study startJun 2016
- Primary completionDec 2030 (estimated)
- Study completionDec 2030 (estimated)
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 Duchenne Muscular DystrophyStudies of the same condition, open and under way.
- More trials run by Nationwide Children's HospitalThe 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 250 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Nationwide Children's Hospital
- Sponsor type
- University, hospital or other
- Collaborators
- Parent Project Muscular Dystrophy
- Responsible party
- Principal investigator, May Ling Mah, Nationwide Children's Hospital
- Investigators
- May Ling Mah, MD, Principal investigator, PI
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02972580
- Sponsor's protocol ID
- IRB16-00319
- Status last verified
- Aug 2024
- First submitted
- 25 Jul 2016
- Last updated
- 27 Aug 2024
- Results posted
- No
- Data monitoring committee
- No
Publications
Mah ML, Cripe L, Slawinski MK, Al-Zaidy SA, Camino E, Lehman KJ, Jackson JL, Iammarino M, Miller N, Mendell JR, Hor KN. Duchenne and Becker muscular dystrophy carriers: Evidence of cardiomyopathy by exercise and cardiac MRI testing. Int J Cardiol. 2020 Oct 1;316:257-265. doi: 10.1016/j.ijcard.2020.05.052. Epub 2020 May 27.
PubMed 32473283
Study at a glance
From the registry record, last updated by the sponsor on 27 Aug 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Characterization of Clinical Skeletal and Cardiac Impairment in Carriers of Duchenne Muscular Dystrophy (DMD) and Becker Muscular Dystrophy (BMD)
- ClinicalTrials.gov ID
- NCT02972580
- Acronym / sponsor ID
- IRB16-00319
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 250 participants (estimated)
- Lead sponsor
- Nationwide Children's HospitalUniversity, hospital or other
- Collaborators
- Parent Project Muscular Dystrophy
- Study start
- Jun 2016
- Primary completion
- Dec 2030 (estimated)
- Study completion
- Dec 2030 (estimated)
- First posted
- 23 Nov 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.
Longitudinal prospective observational study. This is a 24-month study with the possibility of extending the data time points. Initially baseline, then 12 and 24 months follow up studies will be completed.
Detailed description
Four cohorts are enrolled in this study. The target population is the cohort of genetically confirmed DMD/BMD female carriers (Cohort A). This cohort will consist of 150 DMD/BMD mothers who are somatic carriers of a mutation in the DMD gene. The data collected for this cohort will be compared to three control groups; Control Group B is a cohort of 50 DMD/BMD mothers who are NOT somatic carriers, Control Group C is a cohort of 50 age-matched healthy controls and Control Group D is a cohort of 25 genetically confirmed carriers who do not have an affected child. The inclusion of a Control Group B allows for a comparison to a group of mothers that share the emotional and cognitive burden of caring for an affected male without having the physical or cognitive risks of being a female carrier. The Control Group C offers robust data from an age-matched healthy cohort for purposes of comparison. Control Group D allows for comparison to a group of women that have the same physical or cognitive risks as the Cohort A female carriers, but do not have the same burden of care giving.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Cohort A | – | Genetic: Genetic characterizationDMD/BMD Female Carriers who have/had an affected child (n=150) |
| Cohort B | – | Genetic: Genetic characterizationDMD/BMD Female non-carriers controls who have/had an affected child (n=50) |
| Cohort C | – | Genetic: Genetic characterizationHealthy Age-Matched Controls (n=50) |
| Cohort D | – | Genetic: Genetic characterizationDMD/BMD Female Carriers with no affected children (n=25) |
Who may qualify
- Ages
- 18 years and older
- Sex
- Female only
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Cohort A: DMD/BMD Female Carriers who have/had an affected child (n=150) Cohort B: DMD/BMD Female non-carriers controls who have/had an affected child (n=50) Cohort C: Healthy Age-Matched Controls (n=50) Cohort D: DMD/BMD Female Carriers who do not have/had an affected child (n=25)
Key inclusion criteria (7 listed)
- Age >18 years
- Cohort A requires a genetically confirmed mutation in the DMD gene with an affected child
- Cohort B includes DMD/BMD mothers with NO somatic mutation in the DMD gene
- Cohort C age-matched healthy controls with a normal CK level
- Cohort D requires a genetically confirmed mutation in the DMD gene without an affected child
Key exclusion criteria (5 listed)
- Subjects with a contraindication to cardiac or skeletal muscle MRI
- Subjects on heart failure medication at time of enrollment
- Subjects on steroid treatment
- Presence of an inherited neurologic disease or comorbidity that may affect their ability to complete this study
- Has a medical condition or extenuating circumstance that, in the opinion of the investigator, might compromise the subject's ability to comply with the protocol required testing or procedures or compromise the subject's wellbeing, safety, or clinical interpretability
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 |
|---|---|---|
| Genetic characterizationConfirmatory genetic testing for mutation in DMD gene (Carrier Status) for subjects in respective Cohorts | Genetic | Cohort A, Cohort B, Cohort C, Cohort D |
Primary outcome
Compromise of cardiac function based on Cardiac Magnetic Resonance Imaging
Time frame: 2 years
Cardiac function as compromised by evidence of scarring of cardiac muscles, particularly of the base of the left ventricle via cardiac MRI studies with gadolinium contrast.
12 secondary outcomes
Cardiac Function Assessment Treadmill SVO2
Time frame: 2 years
Physical Therapy Assessments Maximum Voluntary Isometric Contraction Testing
Time frame: 2 Years
Physical Therapy Assessments 6 Minute Walk Test
Time frame: 2 years
Physical Therapy Assessments ACTIVE-seated
Time frame: 2 Years
Physical Therapy Assessments Time-to-Rise
Time frame: 2 Years
Laboratory biomarkers - Creatine Kinase
Time frame: 2 Years
Laboratory biomarkers - C-Reactive Protein
Time frame: 2 Years
Laboratory biomarkers - Interleukin-6
Time frame: 2 Years
Laboratory biomarkers - Cortisol levels
Time frame: 2 Years
Cognitive Assessment
Time frame: 2 Years
Caregiver Stress
Time frame: 2 Years
Pulmonary function testing (PFTs)
Time frame: 2 Years
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 27 Aug 2024.
- Derived from this study: PubMed 32473283Mah ML, Cripe L, Slawinski MK, Al-Zaidy SA, Camino E, Lehman KJ, Jackson JL, Iammarino M, Miller N, Mendell JR, Hor KN. Duchenne and Becker muscular dystrophy carriers: Evidence of cardiomyopathy by exercise and cardiac MRI testing. Int J Cardiol. 2020 Oct 1;316:257-265. doi: 10.1016/j.ijcard.2020.05.052. Epub 2020 May 27.
Related trials for Duchenne Muscular Dystrophy
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 recruitingObservational study
Multimodal Study About Absence of Dp140 in Becker Muscular Dystrophy: Brain-muscle Imaging, Cognition and Muscle Function
Becker 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)
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.
May Ling Mah, MD principal investigator
PI
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 Duchenne Muscular Dystrophy and Becker Muscular Dystrophy, run by Nationwide Children's Hospital 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 7 inclusion and 5 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: under way, not looking for participants, as of the sponsor's last update on 27 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?
This study is still under way. Results are not available in the source record yet.
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?
Compromise of cardiac function based on Cardiac Magnetic Resonance Imaging (time frame: 2 years). 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 NCT02972580, 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 27 Aug 2024; AzTrials last refreshed its copy on 8 Nov 2026.