Duchenne Muscular DystrophyNCT01484678
Magnetic Resonance Imaging and Biomarkers for Muscular Dystrophy
An observational study of Duchenne Muscular Dystrophy and Becker Muscular Dystrophy, run by University of Florida at 3 sites in United States.
Trial summary
The purpose of this research study is to determine the potential of magnetic resonance imaging, spectroscopy, and whole body imaging to monitor disease progression and to serve as an objective outcome measure for clinical trials in Muscular Dystrophy (MD). Read more about this study
- Who is it for?
- Ages 5 to 62 years, men onlyHealthy volunteers can take part
- Conditions the study is for
- Duchenne Muscular Dystrophy, Becker Muscular Dystrophy
- How many people
- 550 participants
- Where
- 3 sitesUnited States
- Study dates
- 1 Sep 2020to 31 Aug 2026
- 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 5 to 62 years
- Men only
- Healthy volunteers accepted
- Child, Adult
Study population: Subjects are recruited from across the country. Investigators have a website (www.imagingNMD.org) and advertise the study nationally through list serves. The study will be advertised at the website of non-profit MD organizations. General information will be emailed to faculty and colleagues around the country. Fliers and brochures will be distributed in participating local clinics, MDA clinics, non-profit organizations, local neuromuscular clinics, and in strategic locations in associated hospitals. Age-matched healthy men will be recruited to match subjects with Becker MD from local and university communities. Individuals interested in this study are asked to contact the site clinical coordinator, who will complete a telephone screening interview to assess eligibility.
Who may be able to join
- 1. Ambulatory and non-ambulatory males (ages 5-30 at baseline testing) previously diagnosed with DMD based on:
- clinical features with onset of symptoms before age five
- elevated serum creatine kinase level or
- absence of dystrophin expression, as determined by immunostain or western blot (<2%) and/or DNA confirmation of a dystrophin mutation *Subjects will not be excluded based on corticosteroid treatment or other clinical trials
- Ambulatory males (ages 18-62) without disease or injury to the lower extremities
- Specific recruitment of a subset of individuals with deletion mutations in the dystrophin gene involving either exon 51 or exon 45.
- Inclusion Criteria for age matched controls for Becker MD subjects:
- 1. Ambulatory males (ages 18-62) without disease or injury to the lower and/or upper extremities will be eligible to participate in this study
Who cannot join
- Males with a contraindication to an MR examination
- Males with unstable medical problems
- Males who are not able to cooperate during testing
- Males with a secondary condition that may impact muscle metabolism, muscle function or functional ability (i.e. cerebral palsy, endocrine disorders, mitochondrial disease)
- Daytime ventilation
- Implantable Cardioverter Defibrillator- (ICD) or pace maker
- Healthy boys/men who participate in competitive sports specific training in excess of 8 hours per week
Trial locations and contacts
3 sites in 1 country. Contact the study team or a site near you to ask about taking part.
United States3 sites, 2 recruiting
- Recruiting
University of Florida
Gainesville, Florida, 32610
Krista Vandenborne, PhD, 352-273-6100, kvandenb@phhp.ufl.edu
Kelly Rock, PhD, 352-294-5798, k.rock@phhp.ufl.edu
- Active, not recruiting
Children's Hospital of Philadelphia
Philadelphia, Pennsylvania, 19104
- Recruiting
Oregon Health and Science University
Portland, Oregon, 97239
William Rooney, PhD, 503-418-1532, rooneyw@ohsu.edu
Olivia Huerta, 971-347-6084, huertao@ohsu.edu
About this study
The purpose of this research study is to determine the potential of magnetic resonance imaging, spectroscopy, and whole body imaging to monitor disease progression and to serve as an objective outcome measure for clinical trials in Muscular Dystrophy (MD).
The investigators will compare the muscles of ambulatory or non-ambulatory boys/men with DMD with muscles of healthy individuals of the same age and monitor disease progression in those with DMD over a 5-10 year period. The amount of muscle damage and fat that the investigators measure will also be related to performance in daily activities, such as walking and the loss of muscle strength. In a small group of subjects the investigators will also assess the effect of corticosteroid drugs on the muscle measurements.
Additionally, the investigators will map the progression of Becker MD following adults with this rare disease. The primary objective is to conduct a multi-centered study to validate the potential of non-invasive magnetic resonance imaging and magnetic resonance spectroscopy to monitor disease progression and to serve as a noninvasive surrogate outcome measure for clinical trials in DMD and BMD. The secondary objective is to characterize the progressive involvement of the lower extremity, upper extremity, trunk/respiratory muscles in boys/men with DMD and BMD guiding clinical trials.
Read the detailed description
The overall objective of this proposal is to validate the potential of noninvasive magnetic resonance imaging (MRI) and spectroscopy (MRS) to monitor disease progression and to serve as an outcome measure for clinical trials in muscular dystrophies. Duchenne muscular dystrophy (DMD) is one of the most devastating genetically linked neuromuscular diseases and is characterized by the absence of dystrophin, resulting in progressive muscle weakness, loss of walking ability and premature death. Despite the poor prognosis therapeutic interventions have been lacking, and outcome measures for clinical trials have been limited to measures of muscle function, quality of life, serum biomarkers of muscle breakdown and invasive muscle biopsies. Closely related to DMD, Becker muscular dystrophy (BMD) has also been largely neglected in therapeutic development, due to its heterogeneity, small patient population, lack of outcome measures and uncertainty surrounding the patterns of disease progression, which may be mutation-dependent. Additional quantitative outcome measures that are noninvasive and sensitive to changes in muscle structure and composition are needed to facilitate the rapid translation of promising new interventions from preclinical studies to clinical trials in both forms of muscular dystrophy. As such, this project targets the development and validation of magnetic resonance as a noninvasive biomarker of disease progression in muscular dystrophy. Using a multi-site research design this study will characterize the intramuscular lipid content, cellular muscle damage and contractile area in the lower and/or upper extremity muscles of 200 ambulatory or non-ambulatory boys/men with DMD, 105 ambulatory or non-ambulatory men with BMD, and 110 healthy age matched boys/men using a combination of sophisticated MRI and MRS technologies. The trunk and respiratory muscles will be characterized in a subgroup of subjects (80 DMD, 20 BMD and 10 controls). In order to assess the sensitivity of each MR measure individually as well as composite MR measures (combination of muscles) to disease progression, all boys/men with DMD or BMD will be re-evaluated in yearly or 6 month intervals. The predictive outcome value of MRI/MRS will be further evaluated by determining the relationship between changes in MR measures and loss in muscle strength and/or functional ability. Using MRI/MRS we will also examine the effect of initiating corticosteroid treatment on skeletal muscle characteristics and composition. Examination of muscles in BMD patients will allow us to increase our understanding of how much dystrophin is needed to protect the muscle. To this end we will specifically examine the relationship between the MR phenotype (e.g. fast or slow increases in fat fraction) and dystrophin mutations, dystrophin expression and other histological markers. Finally, to ensure the rigor of this study we will examine the day-day reproducibility, inter MR system reproducibility and inter-validate the MR measures using localized MRS (golden standard). We anticipate that the MR techniques developed and validated in this study will be suitable for clinical trials in a wide range of muscular dystrophies and other neuromuscular diseases. In addition, MR characterization may serve as a powerful tool to further advance our understanding of the pathogenesis of muscular dystrophy and help guide the design of future trials.
- Keywords
- Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Magnetic Resonance Spectroscopy, Magnetic Resonance Imaging, Muscle
- 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.
| Study group | Role | What they receive |
|---|---|---|
| Age Matched Controls | Age matched non-affected (non-DMD) boys * This arm is full Age matched non-affected men, matched for men with Becker MD *Recruiting | |
| Boys/Men with DMD | This group will include ambulatory and non-ambulatory boys/men with Duchenne Muscular Dystrophy ranging from 5-30 years old. *Recruiting | |
| Adults with Becker MD | This group will include ambulatory and non-ambulatory men with Becker Muscular Dystrophy ranging from 18-62 years old. * Recruiting |
What is being measured
The primary outcome is the main question the study is designed to answer.
Change from baseline in intramuscular lipid up to 3-10 years
In BMD and DMD, the from baseline in intramuscular lipid of upper/ lower extremity and trunk/respiratory muscles, as well as composite measures.
MR measures of intramuscular lipid will be measured in yearly intervals for a period up to 3-10 years.
Measured: Change in baseline up to 3-10 years
Change from baseline in muscle T2 up to 3 months in DMD
In a subgroup of subjects the effect of corticosteroids on muscle T2 will be measured at 3 and 6 months. Muscle T2 is a noninvasive marker of muscle damage/inflammation and will be measured using MR. This substudy requires its own Primary and Secondary Outcome measures.
Measured: Change in baseline up to 3 months
Correlation between MR measures of intramuscular lipid, functional endpoints and histological markers.
In both BMD and DMD, the correlation between MR measures and functional endpoints will be determined, as well as the ability of MR measures to predict future change and loss in function.
Measured: Through study completion, an average of 1 year
Secondary outcomes (3)
Change from baseline in muscle T2 up to 5-10 years
Muscle T2 will be measured in the lower extremity and/or upper extremity muscles using MR at yearly intervals up to 5-10 years.
We will report the change for each year interval.
Measured: Change in baseline up to 5-10 years
Change from baseline in muscle contractile area up to 5-10 years
Muscle contractile area will be measured in the lower extremity and/or upper extremity muscles using MR at yearly intervals up to 5 years. We will report the change for each year interval.
Measured: change in baseline up to 5-10 years
Change from baseline in muscle T2 at 6 months
In a subgroup of subjects the effect of corticosteroids on muscle T2 will be measured at 3 and 6 months. Muscle T2 is a noninvasive marker of muscle damage/inflammation and will be measured using MR. This substudy requires its own Primary and Secondary Outcome measures.
Measured: Change in baseline up to 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted2 Dec 2011 (estimated)
- Study start1 Sep 2020
- Primary completion31 Aug 2026 (estimated)
- Study completion31 Aug 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (38)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 University of FloridaThe 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
- Prospective
- Enrolment
- 550 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Florida
- Sponsor type
- University, hospital or other
- Collaborators
- Oregon Health and Science University, Children's Hospital of Philadelphia, Shriners Hospitals for Children, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
- Responsible party
- Sponsor
- Investigators
- William Rooney, PhD, Principal investigator, Oregan Health and Science UniversityH. Lee Sweeney, PhD, Principal investigator, University of FloridaKrista Vandenborne, PhD, Principal investigator, University of Florida
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01484678
- Sponsor's protocol ID
- IRB201700056-N
- Other IDs
- R01AR056973, 176-2010, OCR16243
- Status last verified
- Oct 2025
- First submitted
- 10 Oct 2011
- Last updated
- 15 Oct 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Publications
Willis AB, Zelikovich AS, Sufit R, Ajroud-Driss S, Vandenborne K, Demonbreun AR, Batra A, Walter GA, McNally EM. Serum protein and imaging biomarkers after intermittent steroid treatment in muscular dystrophy. medRxiv [Preprint]. 2024 Jun 16:2024.06.14.24308858. doi: 10.1101/2024.06.14.24308858.
PubMed 38947030Muntoni F, Signorovitch J, Sajeev G, Done N, Yao Z, Goemans N, McDonald C, Mercuri E, Niks EH, Wong B, Vandenborne K, Straub V, de Groot IJM, Tian C, Manzur A, Dieye I, Lane H, Ward SJ, Servais L; PRO-DMD-01 study investigators; Association Francaise contre les Myopathies; UK NorthStar Clinical Network; ImagingDMD investigators; cTAP. Meaningful changes in motor function in Duchenne muscular dystrophy (DMD): A multi-center study. PLoS One. 2024 Jul 10;19(7):e0304984. doi: 10.1371/journal.pone.0304984. eCollection 2024.
PubMed 38985784Ikelaar NA, Barnard AM, Eng SWM, Hosseini Vajargah S, Ha KCH, Kan HE, Vandenborne K, Niks EH, Walter GA, Spitali P. Large scale serum proteomics identifies proteins associated with performance decline and clinical milestones in Duchenne muscular dystrophy. medRxiv [Preprint]. 2024 Aug 7:2024.08.05.24311516. doi: 10.1101/2024.08.05.24311516.
PubMed 39148831Kim J, Morales JF, Kang S, Klose M, Willcocks RJ, Daniels MJ, Belfiore-Oshan R, Walter GA, Rooney WD, Vandenborne K, Kim S. A model-informed clinical trial simulation tool with a graphical user interface for Duchenne muscular dystrophy. CPT Pharmacometrics Syst Pharmacol. 2025 Nov;14(11):1765-1774. doi: 10.1002/psp4.13246. Epub 2024 Oct 3.
PubMed 39360574Jenkins BM, Dixon LD, Kokesh KJ, Zingariello CD, Vandenborne K, Walter GA, Barnard AM. Skeletal muscle symptoms and quantitative MRI in females with dystrophinopathy. Muscle Nerve. 2024 Nov;70(5):988-999. doi: 10.1002/mus.28235. Epub 2024 Sep 2.
PubMed 39221574Akima H, Lott D, Senesac C, Deol J, Germain S, Arpan I, Bendixen R, Lee Sweeney H, Walter G, Vandenborne K. Relationships of thigh muscle contractile and non-contractile tissue with function, strength, and age in boys with Duchenne muscular dystrophy. Neuromuscul Disord. 2012 Jan;22(1):16-25. doi: 10.1016/j.nmd.2011.06.750. Epub 2011 Jul 31.
PubMed 21807516Forbes SC, Walter GA, Rooney WD, Wang DJ, DeVos S, Pollaro J, Triplett W, Lott DJ, Willcocks RJ, Senesac C, Daniels MJ, Byrne BJ, Russman B, Finkel RS, Meyer JS, Sweeney HL, Vandenborne K. Skeletal muscles of ambulant children with Duchenne muscular dystrophy: validation of multicenter study of evaluation with MR imaging and MR spectroscopy. Radiology. 2013 Oct;269(1):198-207. doi: 10.1148/radiol.13121948. Epub 2013 May 21.
PubMed 23696684Triplett WT, Baligand C, Forbes SC, Willcocks RJ, Lott DJ, DeVos S, Pollaro J, Rooney WD, Sweeney HL, Bonnemann CG, Wang DJ, Vandenborne K, Walter GA. Chemical shift-based MRI to measure fat fractions in dystrophic skeletal muscle. Magn Reson Med. 2014 Jul;72(1):8-19. doi: 10.1002/mrm.24917. Epub 2013 Sep 4.
PubMed 24006208Willcocks RJ, Arpan IA, Forbes SC, Lott DJ, Senesac CR, Senesac E, Deol J, Triplett WT, Baligand C, Daniels MJ, Sweeney HL, Walter GA, Vandenborne K. Longitudinal measurements of MRI-T2 in boys with Duchenne muscular dystrophy: effects of age and disease progression. Neuromuscul Disord. 2014 May;24(5):393-401. doi: 10.1016/j.nmd.2013.12.012. Epub 2014 Jan 11.
PubMed 24491484Arpan I, Willcocks RJ, Forbes SC, Finkel RS, Lott DJ, Rooney WD, Triplett WT, Senesac CR, Daniels MJ, Byrne BJ, Finanger EL, Russman BS, Wang DJ, Tennekoon GI, Walter GA, Sweeney HL, Vandenborne K. Examination of effects of corticosteroids on skeletal muscles of boys with DMD using MRI and MRS. Neurology. 2014 Sep 9;83(11):974-80. doi: 10.1212/WNL.0000000000000775. Epub 2014 Aug 6.
PubMed 25098537Arpan I, Forbes SC, Lott DJ, Senesac CR, Daniels MJ, Triplett WT, Deol JK, Sweeney HL, Walter GA, Vandenborne K. T(2) mapping provides multiple approaches for the characterization of muscle involvement in neuromuscular diseases: a cross-sectional study of lower leg muscles in 5-15-year-old boys with Duchenne muscular dystrophy. NMR Biomed. 2013 Mar;26(3):320-8. doi: 10.1002/nbm.2851. Epub 2012 Oct 9.
PubMed 23044995Forbes SC, Willcocks RJ, Triplett WT, Rooney WD, Lott DJ, Wang DJ, Pollaro J, Senesac CR, Daniels MJ, Finkel RS, Russman BS, Byrne BJ, Finanger EL, Tennekoon GI, Walter GA, Sweeney HL, Vandenborne K. Magnetic resonance imaging and spectroscopy assessment of lower extremity skeletal muscles in boys with Duchenne muscular dystrophy: a multicenter cross sectional study. PLoS One. 2014 Sep 9;9(9):e106435. doi: 10.1371/journal.pone.0106435. eCollection 2014.
PubMed 25203313Bendixen RM, Lott DJ, Senesac C, Mathur S, Vandenborne K. Participation in daily life activities and its relationship to strength and functional measures in boys with Duchenne muscular dystrophy. Disabil Rehabil. 2014;36(22):1918-23. doi: 10.3109/09638288.2014.883444. Epub 2014 Feb 6.
PubMed 24499260Senesac CR, Lott DJ, Forbes SC, Mathur S, Arpan I, Senesac ES, Walter GA, Vandenborne K. Longitudinal Evaluation of Muscle Composition Using Magnetic Resonance in 4 Boys With Duchenne Muscular Dystrophy: Case Series. Phys Ther. 2015 Jul;95(7):978-88. doi: 10.2522/ptj.20140234. Epub 2015 Jan 15.
PubMed 25592189Arora H, Willcocks RJ, Lott DJ, Harrington AT, Senesac CR, Zilke KL, Daniels MJ, Xu D, Tennekoon GI, Finanger EL, Russman BS, Finkel RS, Triplett WT, Byrne BJ, Walter GA, Sweeney HL, Vandenborne K. Longitudinal timed function tests in Duchenne muscular dystrophy: ImagingDMD cohort natural history. Muscle Nerve. 2018 Nov;58(5):631-638. doi: 10.1002/mus.26161. Epub 2018 Jul 24.
PubMed 29742798
Study at a glance
From the registry record, last updated by the sponsor on 15 Oct 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Magnetic Resonance Imaging and Biomarkers for Muscular Dystrophy
- ClinicalTrials.gov ID
- NCT01484678
- Acronym / sponsor ID
- IRB201700056-N
- Keywords
- Duchenne Muscular Dystrophy, Becker Muscular Dystrophy, Magnetic Resonance Spectroscopy, Magnetic Resonance Imaging, Muscle
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 550 participants (estimated)
- Lead sponsor
- University of FloridaUniversity, hospital or other
- Collaborators
- Oregon Health and Science University, Children's Hospital of Philadelphia, Shriners Hospitals for Children, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS)
- Study start
- 1 Sep 2020 (actual)
- Primary completion
- 31 Aug 2026 (estimated)
- Study completion
- 31 Aug 2026 (estimated)
- First posted
- 2 Dec 2011 (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 this research study is to determine the potential of magnetic resonance imaging, spectroscopy, and whole body imaging to monitor disease progression and to serve as an objective outcome measure for clinical trials in Muscular Dystrophy (MD).
The investigators will compare the muscles of ambulatory or non-ambulatory boys/men with DMD with muscles of healthy individuals of the same age and monitor disease progression in those with DMD over a 5-10 year period. The amount of muscle damage and fat that the investigators measure will also be related to performance in daily activities, such as walking and the loss of muscle strength. In a small group of subjects the investigators will also assess the effect of corticosteroid drugs on the muscle measurements.
Additionally, the investigators will map the progression of Becker MD following adults with this rare disease. The primary objective is to conduct a multi-centered study to validate the potential of non-invasive magnetic resonance imaging and magnetic resonance spectroscopy to monitor disease progression and to serve as a noninvasive surrogate outcome measure for clinical trials in DMD and BMD. The secondary objective is to characterize the progressive involvement of the lower extremity, upper extremity, trunk/respiratory muscles in boys/men with DMD and BMD guiding clinical trials.
Detailed description
The overall objective of this proposal is to validate the potential of noninvasive magnetic resonance imaging (MRI) and spectroscopy (MRS) to monitor disease progression and to serve as an outcome measure for clinical trials in muscular dystrophies. Duchenne muscular dystrophy (DMD) is one of the most devastating genetically linked neuromuscular diseases and is characterized by the absence of dystrophin, resulting in progressive muscle weakness, loss of walking ability and premature death. Despite the poor prognosis therapeutic interventions have been lacking, and outcome measures for clinical trials have been limited to measures of muscle function, quality of life, serum biomarkers of muscle breakdown and invasive muscle biopsies. Closely related to DMD, Becker muscular dystrophy (BMD) has also been largely neglected in therapeutic development, due to its heterogeneity, small patient population, lack of outcome measures and uncertainty surrounding the patterns of disease progression, which may be mutation-dependent. Additional quantitative outcome measures that are noninvasive and sensitive to changes in muscle structure and composition are needed to facilitate the rapid translation of promising new interventions from preclinical studies to clinical trials in both forms of muscular dystrophy. As such, this project targets the development and validation of magnetic resonance as a noninvasive biomarker of disease progression in muscular dystrophy. Using a multi-site research design this study will characterize the intramuscular lipid content, cellular muscle damage and contractile area in the lower and/or upper extremity muscles of 200 ambulatory or non-ambulatory boys/men with DMD, 105 ambulatory or non-ambulatory men with BMD, and 110 healthy age matched boys/men using a combination of sophisticated MRI and MRS technologies. The trunk and respiratory muscles will be characterized in a subgroup of subjects (80 DMD, 20 BMD and 10 controls). In order to assess the sensitivity of each MR measure individually as well as composite MR measures (combination of muscles) to disease progression, all boys/men with DMD or BMD will be re-evaluated in yearly or 6 month intervals. The predictive outcome value of MRI/MRS will be further evaluated by determining the relationship between changes in MR measures and loss in muscle strength and/or functional ability. Using MRI/MRS we will also examine the effect of initiating corticosteroid treatment on skeletal muscle characteristics and composition. Examination of muscles in BMD patients will allow us to increase our understanding of how much dystrophin is needed to protect the muscle. To this end we will specifically examine the relationship between the MR phenotype (e.g. fast or slow increases in fat fraction) and dystrophin mutations, dystrophin expression and other histological markers. Finally, to ensure the rigor of this study we will examine the day-day reproducibility, inter MR system reproducibility and inter-validate the MR measures using localized MRS (golden standard). We anticipate that the MR techniques developed and validated in this study will be suitable for clinical trials in a wide range of muscular dystrophies and other neuromuscular diseases. In addition, MR characterization may serve as a powerful tool to further advance our understanding of the pathogenesis of muscular dystrophy and help guide the design of future trials.
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 3
| Arm | Type | Receives |
|---|---|---|
| Age Matched Controls | – | –Age matched non-affected (non-DMD) boys * This arm is full Age matched non-affected men, matched for men with Becker MD *Recruiting |
| Boys/Men with DMD | – | –This group will include ambulatory and non-ambulatory boys/men with Duchenne Muscular Dystrophy ranging from 5-30 years old. *Recruiting |
| Adults with Becker MD | – | –This group will include ambulatory and non-ambulatory men with Becker Muscular Dystrophy ranging from 18-62 years old. * Recruiting |
Who may qualify
- Ages
- 5 to 62 years
- Sex
- Male only
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult
- Study population
- Subjects are recruited from across the country. Investigators have a website (www.imagingNMD.org) and advertise the study nationally through list serves. The study will be advertised at the website of non-profit MD organizations. General information will be emailed to faculty and colleagues around the country. Fliers and brochures will be distributed in participating local clinics, MDA clinics, non-profit organizations, local neuromuscular clinics, and in strategic locations in associated hospitals. Age-matched healthy men will be recruited to match subjects with Becker MD from local and university communities. Individuals interested in this study are asked to contact the site clinical coordinator, who will complete a telephone screening interview to assess eligibility.
Key inclusion criteria (8 listed)
- 1. Ambulatory and non-ambulatory males (ages 5-30 at baseline testing) previously diagnosed with DMD based on:
- clinical features with onset of symptoms before age five
- elevated serum creatine kinase level or
- absence of dystrophin expression, as determined by immunostain or western blot (<2%) and/or DNA confirmation of a dystrophin mutation *Subjects will not be excluded based on corticosteroid treatment or other clinical trials
- Ambulatory males (ages 18-62) without disease or injury to the lower extremities
Key exclusion criteria (7 listed)
- Males with a contraindication to an MR examination
- Males with unstable medical problems
- Males who are not able to cooperate during testing
- Males with a secondary condition that may impact muscle metabolism, muscle function or functional ability (i.e. cerebral palsy, endocrine disorders, mitochondrial disease)
- Daytime ventilation
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
Change from baseline in intramuscular lipid up to 3-10 years
Time frame: Change in baseline up to 3-10 years
In BMD and DMD, the from baseline in intramuscular lipid of upper/ lower extremity and trunk/respiratory muscles, as well as composite measures. MR measures of intramuscular lipid will be measured in yearly intervals for a period up to 3-10 years.
Change from baseline in muscle T2 up to 3 months in DMD
Time frame: Change in baseline up to 3 months
In a subgroup of subjects the effect of corticosteroids on muscle T2 will be measured at 3 and 6 months. Muscle T2 is a noninvasive marker of muscle damage/inflammation and will be measured using MR. This substudy requires its own Primary and Secondary Outcome measures.
Correlation between MR measures of intramuscular lipid, functional endpoints and histological markers.
Time frame: Through study completion, an average of 1 year
In both BMD and DMD, the correlation between MR measures and functional endpoints will be determined, as well as the ability of MR measures to predict future change and loss in function.
3 secondary outcomes
Change from baseline in muscle T2 up to 5-10 years
Time frame: Change in baseline up to 5-10 years
Change from baseline in muscle contractile area up to 5-10 years
Time frame: change in baseline up to 5-10 years
Change from baseline in muscle T2 at 6 months
Time frame: Change in baseline up to 6 months
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 15 Oct 2025.
- Background: PubMed 38947030Willis AB, Zelikovich AS, Sufit R, Ajroud-Driss S, Vandenborne K, Demonbreun AR, Batra A, Walter GA, McNally EM. Serum protein and imaging biomarkers after intermittent steroid treatment in muscular dystrophy. medRxiv [Preprint]. 2024 Jun 16:2024.06.14.24308858. doi: 10.1101/2024.06.14.24308858.
- Background: PubMed 38985784Muntoni F, Signorovitch J, Sajeev G, Done N, Yao Z, Goemans N, McDonald C, Mercuri E, Niks EH, Wong B, Vandenborne K, Straub V, de Groot IJM, Tian C, Manzur A, Dieye I, Lane H, Ward SJ, Servais L; PRO-DMD-01 study investigators; Association Francaise contre les Myopathies; UK NorthStar Clinical Network; ImagingDMD investigators; cTAP. Meaningful changes in motor function in Duchenne muscular dystrophy (DMD): A multi-center study. PLoS One. 2024 Jul 10;19(7):e0304984. doi: 10.1371/journal.pone.0304984. eCollection 2024.
- Background: PubMed 39148831Ikelaar NA, Barnard AM, Eng SWM, Hosseini Vajargah S, Ha KCH, Kan HE, Vandenborne K, Niks EH, Walter GA, Spitali P. Large scale serum proteomics identifies proteins associated with performance decline and clinical milestones in Duchenne muscular dystrophy. medRxiv [Preprint]. 2024 Aug 7:2024.08.05.24311516. doi: 10.1101/2024.08.05.24311516.
- Background: PubMed 39360574Kim J, Morales JF, Kang S, Klose M, Willcocks RJ, Daniels MJ, Belfiore-Oshan R, Walter GA, Rooney WD, Vandenborne K, Kim S. A model-informed clinical trial simulation tool with a graphical user interface for Duchenne muscular dystrophy. CPT Pharmacometrics Syst Pharmacol. 2025 Nov;14(11):1765-1774. doi: 10.1002/psp4.13246. Epub 2024 Oct 3.
- Background: PubMed 39221574Jenkins BM, Dixon LD, Kokesh KJ, Zingariello CD, Vandenborne K, Walter GA, Barnard AM. Skeletal muscle symptoms and quantitative MRI in females with dystrophinopathy. Muscle Nerve. 2024 Nov;70(5):988-999. doi: 10.1002/mus.28235. Epub 2024 Sep 2.
- Background: PubMed 21807516Akima H, Lott D, Senesac C, Deol J, Germain S, Arpan I, Bendixen R, Lee Sweeney H, Walter G, Vandenborne K. Relationships of thigh muscle contractile and non-contractile tissue with function, strength, and age in boys with Duchenne muscular dystrophy. Neuromuscul Disord. 2012 Jan;22(1):16-25. doi: 10.1016/j.nmd.2011.06.750. Epub 2011 Jul 31.
- Background: PubMed 23696684Forbes SC, Walter GA, Rooney WD, Wang DJ, DeVos S, Pollaro J, Triplett W, Lott DJ, Willcocks RJ, Senesac C, Daniels MJ, Byrne BJ, Russman B, Finkel RS, Meyer JS, Sweeney HL, Vandenborne K. Skeletal muscles of ambulant children with Duchenne muscular dystrophy: validation of multicenter study of evaluation with MR imaging and MR spectroscopy. Radiology. 2013 Oct;269(1):198-207. doi: 10.1148/radiol.13121948. Epub 2013 May 21.
- Background: PubMed 24006208Triplett WT, Baligand C, Forbes SC, Willcocks RJ, Lott DJ, DeVos S, Pollaro J, Rooney WD, Sweeney HL, Bonnemann CG, Wang DJ, Vandenborne K, Walter GA. Chemical shift-based MRI to measure fat fractions in dystrophic skeletal muscle. Magn Reson Med. 2014 Jul;72(1):8-19. doi: 10.1002/mrm.24917. Epub 2013 Sep 4.
- Background: PubMed 24491484Willcocks RJ, Arpan IA, Forbes SC, Lott DJ, Senesac CR, Senesac E, Deol J, Triplett WT, Baligand C, Daniels MJ, Sweeney HL, Walter GA, Vandenborne K. Longitudinal measurements of MRI-T2 in boys with Duchenne muscular dystrophy: effects of age and disease progression. Neuromuscul Disord. 2014 May;24(5):393-401. doi: 10.1016/j.nmd.2013.12.012. Epub 2014 Jan 11.
- Background: PubMed 25098537Arpan I, Willcocks RJ, Forbes SC, Finkel RS, Lott DJ, Rooney WD, Triplett WT, Senesac CR, Daniels MJ, Byrne BJ, Finanger EL, Russman BS, Wang DJ, Tennekoon GI, Walter GA, Sweeney HL, Vandenborne K. Examination of effects of corticosteroids on skeletal muscles of boys with DMD using MRI and MRS. Neurology. 2014 Sep 9;83(11):974-80. doi: 10.1212/WNL.0000000000000775. Epub 2014 Aug 6.
- Background: PubMed 23044995Arpan I, Forbes SC, Lott DJ, Senesac CR, Daniels MJ, Triplett WT, Deol JK, Sweeney HL, Walter GA, Vandenborne K. T(2) mapping provides multiple approaches for the characterization of muscle involvement in neuromuscular diseases: a cross-sectional study of lower leg muscles in 5-15-year-old boys with Duchenne muscular dystrophy. NMR Biomed. 2013 Mar;26(3):320-8. doi: 10.1002/nbm.2851. Epub 2012 Oct 9.
- Background: PubMed 25203313Forbes SC, Willcocks RJ, Triplett WT, Rooney WD, Lott DJ, Wang DJ, Pollaro J, Senesac CR, Daniels MJ, Finkel RS, Russman BS, Byrne BJ, Finanger EL, Tennekoon GI, Walter GA, Sweeney HL, Vandenborne K. Magnetic resonance imaging and spectroscopy assessment of lower extremity skeletal muscles in boys with Duchenne muscular dystrophy: a multicenter cross sectional study. PLoS One. 2014 Sep 9;9(9):e106435. doi: 10.1371/journal.pone.0106435. eCollection 2014.
- active websiteLink provided by the sponsor.
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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.
William Rooney, PhD principal investigator
Oregan Health and Science University
H. Lee Sweeney, PhD principal investigator
University of Florida
Krista Vandenborne, PhD principal investigator
University of Florida
3 sites 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 University of Florida 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 8 inclusion and 7 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: looking for participants now, as of the sponsor's last update on 15 Oct 2025. 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?
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?
Contact Krista Vandenborne, PhD (352-273-6100, kvandenb@phhp.ufl.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Change from baseline in intramuscular lipid up to 3-10 years (time frame: Change in baseline up to 3-10 years). 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 NCT01484678, which also lists 38 linked publications.
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 15 Oct 2025.