Facioscapulohumeral Muscular DystrophyNCT01671865
Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy
An observational study of Facioscapulohumeral Muscular Dystrophy, run by Hugo W. Moser Research Institute at Kennedy Krieger, Inc. at 1 site in United States.
Trial summary
The purpose of this research study is to identify and study changes in muscle in people with facioscapulohumeral muscular dystrophy using magnetic resonance imaging and spectroscopy. Read more about this study
- Who is it for?
- Ages 12 years and older
- Conditions the study is for
- Facioscapulohumeral Muscular Dystrophy
- How many people
- 75 participants
- Where
- 1 siteUnited States
- Study dates
- Mar 2012to Jun 2028
- 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 12 years and older
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: This study will include people with facioscapulohumeral muscular dystrophy confirmed through genetic testing.
Who may be able to join
- Ability to give written informed consent for study participation (a parent or guardian will be asked to provide informed consent for participants younger than 18 years old)
- Confirmed diagnosis of FSHD through genetic testing (participants will be asked to provide copies of genetic testing results)
Who cannot join
- Any contraindication to MRI scanning
- Inability to complete a physical examination, including strength measurements
Trial locations and contacts
1 site in 1 country.
About this study
The purpose of this research study is to identify and study changes in muscle in people with facioscapulohumeral muscular dystrophy using magnetic resonance imaging and spectroscopy.
Read the detailed description
This research study is being done to study changes in muscle imaging over time in people with facioscapulohumeral muscular dystrophy (FSHD). Whole-body magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) will be used to evaluate skeletal muscle in study participants. This research is being done to assess how changes in muscle imaging correspond to muscle strength and function. Qualified participants will be asked to complete 5 study visits over 21 months. Each visit will include muscle strength and function testing in addition to the MRI/MRS scan. The investigators plan to use MRI and MRS in developing outcome measures that can be used in future clinical trials for FSHD.
- Conditions
- Facioscapulohumeral Muscular Dystrophy
- Keywords
- FSHD, magnetic resonance imaging, magnetic resonance spectroscopy
- Medical subject headings
- Muscular Dystrophy, Facioscapulohumeral
What is being measured
The primary outcome is the main question the study is designed to answer.
Intramuscular fat infiltration on MRI
Intramuscular fat infiltration on MRI
Measured: Baseline, 3 months, 9 months, 15 months, and 21 months
Secondary outcomes (3)
Intramuscular edema on MRI
Intramuscular edema on MRI
Measured: Baseline, 3 months, 9 months, 15 months, and 21 months
Muscle strength testing
Muscle strength testing
Measured: Baseline, 3 months, 9 months, 15 months, and 21 months
Timed function testing
Timed function testing
Measured: Baseline, 3 months, 9 months, 15 months, and 21 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Aug 2012 (estimated)
- Study startMar 2012
- Primary completionJun 2028 (estimated)
- Study completionJun 2028 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (3)Papers the sponsor has linked to this study.
- Other trials for Facioscapulohumeral Muscular DystrophyStudies of the same condition, open and under way.
- 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
- 75 participants (estimated)
Sponsor and investigators
- Lead sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Doris G Leung, MD, PhD, Principal investigator, Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01671865
- Sponsor's protocol ID
- NA_00065256
- Status last verified
- Aug 2026
- First submitted
- 21 Aug 2012
- Last updated
- 5 Aug 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Leung DG. Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic review. J Neurol. 2017 Jul;264(7):1320-1333. doi: 10.1007/s00415-016-8350-6. Epub 2016 Nov 25.
PubMed 27888415Leung DG, Carrino JA, Wagner KR, Jacobs MA. Whole-body magnetic resonance imaging evaluation of facioscapulohumeral muscular dystrophy. Muscle Nerve. 2015 Oct;52(4):512-20. doi: 10.1002/mus.24569. Epub 2015 Mar 31.
PubMed 25641525Leung DG, Wang X, Barker PB, Carrino JA, Wagner KR. Multivoxel proton magnetic resonance spectroscopy in facioscapulohumeral muscular dystrophy. Muscle Nerve. 2018 Jun;57(6):958-963. doi: 10.1002/mus.26048. Epub 2018 Feb 14.
PubMed 29266323
Study at a glance
From the registry record, last updated by the sponsor on 5 Aug 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Magnetic Resonance Imaging and Spectroscopy Biomarkers for Facioscapulohumeral Muscular Dystrophy
- ClinicalTrials.gov ID
- NCT01671865
- Acronym / sponsor ID
- NA_00065256
- Conditions
- Facioscapulohumeral Muscular Dystrophy
- Keywords
- FSHD, magnetic resonance imaging, magnetic resonance spectroscopy
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 75 participants (estimated)
- Lead sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.University, hospital or other
- Study start
- Mar 2012 (actual)
- Primary completion
- Jun 2028 (estimated)
- Study completion
- Jun 2028 (estimated)
- First posted
- 24 Aug 2012 (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 identify and study changes in muscle in people with facioscapulohumeral muscular dystrophy using magnetic resonance imaging and spectroscopy.
Detailed description
This research study is being done to study changes in muscle imaging over time in people with facioscapulohumeral muscular dystrophy (FSHD). Whole-body magnetic resonance imaging (MRI) and magnetic resonance spectroscopy (MRS) will be used to evaluate skeletal muscle in study participants. This research is being done to assess how changes in muscle imaging correspond to muscle strength and function. Qualified participants will be asked to complete 5 study visits over 21 months. Each visit will include muscle strength and function testing in addition to the MRI/MRS scan. The investigators plan to use MRI and MRS in developing outcome measures that can be used in future clinical trials for FSHD.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 12 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- This study will include people with facioscapulohumeral muscular dystrophy confirmed through genetic testing.
Key inclusion criteria (2 listed)
- Ability to give written informed consent for study participation (a parent or guardian will be asked to provide informed consent for participants younger than 18 years old)
- Confirmed diagnosis of FSHD through genetic testing (participants will be asked to provide copies of genetic testing results)
Key exclusion criteria (2 listed)
- Any contraindication to MRI scanning
- Inability to complete a physical examination, including strength measurements
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
Intramuscular fat infiltration on MRI
Time frame: Baseline, 3 months, 9 months, 15 months, and 21 months
Intramuscular fat infiltration on MRI
3 secondary outcomes
Intramuscular edema on MRI
Time frame: Baseline, 3 months, 9 months, 15 months, and 21 months
Muscle strength testing
Time frame: Baseline, 3 months, 9 months, 15 months, and 21 months
Timed function testing
Time frame: Baseline, 3 months, 9 months, 15 months, and 21 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 5 Aug 2026.
- Background: PubMed 27888415Leung DG. Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic review. J Neurol. 2017 Jul;264(7):1320-1333. doi: 10.1007/s00415-016-8350-6. Epub 2016 Nov 25.
- Results publication: PubMed 25641525Leung DG, Carrino JA, Wagner KR, Jacobs MA. Whole-body magnetic resonance imaging evaluation of facioscapulohumeral muscular dystrophy. Muscle Nerve. 2015 Oct;52(4):512-20. doi: 10.1002/mus.24569. Epub 2015 Mar 31.
- Results publication: PubMed 29266323Leung DG, Wang X, Barker PB, Carrino JA, Wagner KR. Multivoxel proton magnetic resonance spectroscopy in facioscapulohumeral muscular dystrophy. Muscle Nerve. 2018 Jun;57(6):958-963. doi: 10.1002/mus.26048. Epub 2018 Feb 14.
- Kennedy Krieger Institute Center for Genetic Muscle DisordersLink provided by the sponsor.
- 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.
Doris G Leung, MD, PhD principal investigator
Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
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 Facioscapulohumeral Muscular Dystrophy, run by Hugo W. Moser Research Institute at Kennedy Krieger, Inc. 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 2 inclusion and 2 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 5 Aug 2026. 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?
Intramuscular fat infiltration on MRI (time frame: Baseline, 3 months, 9 months, 15 months, and 21 months). 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 NCT01671865, which also lists 3 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 5 Aug 2026.