FSHD - Facioscapulohumeral Muscular DystrophyFSH-3DGaitNCT07164937
Imaging and Gait Analysis in FSHD Patients
An observational study of FSHD - Facioscapulohumeral Muscular Dystrophy, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 1 site in Italy.
Trial summary
Facioscapulohumeral muscular dystrophy (FSHD) is a common genetic muscle disorder characterized by progressive and often asymmetric muscle weakness, with high variability in clinical severity and disease progression. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- FSHD - Facioscapulohumeral Muscular Dystrophy
- How many people
- 40 participants
- Where
- 1 siteItaly
- Study dates
- 30 Nov 2024to 30 Nov 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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Patients affected by FSHD
Who may be able to join
- Age ≥ 18 years. Genetically confirmed diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD).
- Availability of:
- Muscle MRI images. 3D Gait Analysis data (with or without personalized orthopedic aids). Both MRI and Gait Analysis performed within a maximum interval of 6 months from each other.
- Regular neurological follow-ups as part of routine clinical care. Signed informed consent for participation in the study.
Who cannot join
- Age < 18 years.
- Unavailability of:
- Muscle MRI images. 3D Gait Analysis data performed within a maximum interval of 6 months from each other.
- Refusal or inability to provide signed informed consent for participation in the study.
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
About this study
Official title: Advanced Imaging and Multimodal Posture and Gait Analysis in Patients Affected by Facio-scapulo-humeral Dystrophy (FSHD): Development of an Innovative Model for Orthopedic Device Design
Facioscapulohumeral muscular dystrophy (FSHD) is a common genetic muscle disorder characterized by progressive and often asymmetric muscle weakness, with high variability in clinical severity and disease progression. This study aims to integrate advanced imaging and motion analysis technologies to comprehensively evaluate the impact of FSHD on muscle degeneration and motor functionality.
The primary objective is to characterize the distribution and severity of muscle degeneration using magnetic resonance imaging (MRI) and correlate these findings with motor functionality profiles in a cohort of FSHD patients.
Read more
Secondary objectives include:
Describing gait and posture through the analysis of functional parameters using 3D-motion capture technologies.
Quantifying changes in gait and posture parameters before and after personalized orthopedic interventions, assessed with functional clinical scales and 3D-motion capture analysis.
This single-center, observational study will recruit 40 genetically confirmed FSHD patients from routine clinical follow-ups at the Policlinico Gemelli. Patients will undergo MRI to assess the degree of muscle fatty replacement (T1-score) and 3D Gait Analysis to capture biomechanical parameters such as kinematics, ground reaction forces, and muscle activation. Functional assessments will include tests like the Six-Minute Walk Test (6MWT) and Timed Up \& Go Test (TUG), alongside standardized scales for balance, fatigue, pain, and quality of life.
The study seeks to identify novel clinical and biomechanical outcome measures that can stratify FSHD patients and evaluate therapeutic interventions. By correlating MRI patterns with motor deficits and analyzing the impact of orthopedic devices, the study aims to inform personalized rehabilitation strategies and support the design of clinical trials.
Read the detailed description
Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary myopathy characterized by asymmetric involvement of facial, scapular, truncal, and lower limb muscles. Disease progression is highly variable, ranging from mild weakness to severe motor disability. Although muscle MRI has emerged as a sensitive tool to detect fatty replacement and disease activity, its integration with quantitative functional assessments is still limited.
This study is designed to explore the relationship between structural changes observed on MRI and functional motor performance in a cohort of adult FSHD patients. By combining whole-body MRI with standardized clinical evaluations and advanced 3D motion analysis, the project aims to provide a multidimensional characterization of motor impairment in FSHD.
The protocol foresees the acquisition of MRI scans and gait analysis data within a defined temporal window, ensuring comparability of structural and functional information. MRI data will be analyzed to derive a semiquantitative T1-score reflecting the burden of fatty infiltration, as well as STIR sequences for signs of muscle inflammation. These imaging findings will then be correlated with clinical outcome measures, including validated severity scales, timed functional tests, and motion capture-derived biomechanical parameters.
An additional exploratory component concerns the assessment of personalized orthopedic interventions, with pre- and post-application gait analysis sessions. This approach will allow the evaluation of the short-term functional impact of targeted assistive devices, generating insights for individualized rehabilitation strategies.
The expected contribution of this study is twofold: first, to validate MRI-based biomarkers and biomechanical metrics as reliable outcome measures for FSHD; and second, to establish an integrated framework for assessing motor impairment that may be applied in future interventional trials and in routine clinical management.
- Medical subject headings
- Muscular Dystrophy, Facioscapulohumeral
What is being measured
The primary outcome is the main question the study is designed to answer.
Global T1-score and Regional T1-score Correlation:
Evaluation of the global T1-score and individual regional T1-scores (neck, shoulder girdle, trunk, pelvis, and lower limbs) derived from MRI ( minimun T1 score 0= normal; maximum T1 score 4= completely involved).
Correlation of these scores with motor functionality parameters, including demographic data, clinical severity scales, functional clinical scales, and biomechanical parameters from 3D Gait Analysis.
Measured: At the enrollement
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted10 Sep 2025
- Study start30 Nov 2024
- Primary completion30 Nov 2024
- Study completion30 Nov 2026 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for FSHD - Facioscapulohumeral Muscular DystrophyStudies of the same condition, open and under way.
- More trials run by Fondazione Policlinico Universitario Agostino Gemelli IRCCSThe 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 only
- Time perspective
- Other
- Enrolment
- 40 participants (estimated)
Sponsor and investigators
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Enzo Ricci, Principal investigator, Fondazione Policlinico Universitario Agostino Gemelli IRCCS
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT07164937
- Sponsor's protocol ID
- 6687
- Acronym
- FSH-3DGait
- Status last verified
- Sep 2024
- First submitted
- 21 Nov 2024
- Last updated
- 10 Sep 2025
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
Study at a glance
From the registry record, last updated by the sponsor on 10 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Advanced Imaging and Multimodal Posture and Gait Analysis in Patients Affected by Facio-scapulo-humeral Dystrophy (FSHD): Development of an Innovative Model for Orthopedic Device Design
- ClinicalTrials.gov ID
- NCT07164937
- Acronym / sponsor ID
- FSH-3DGait / 6687
- Study type
- Observational
- Recruitment status
- Enrolling by invitation
- Enrolment
- 40 participants (estimated)
- Lead sponsor
- Fondazione Policlinico Universitario Agostino Gemelli IRCCSUniversity, hospital or other
- Study start
- 30 Nov 2024 (actual)
- Primary completion
- 30 Nov 2024 (actual)
- Study completion
- 30 Nov 2026 (estimated)
- First posted
- 10 Sep 2025 (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.
Facioscapulohumeral muscular dystrophy (FSHD) is a common genetic muscle disorder characterized by progressive and often asymmetric muscle weakness, with high variability in clinical severity and disease progression. This study aims to integrate advanced imaging and motion analysis technologies to comprehensively evaluate the impact of FSHD on muscle degeneration and motor functionality.
The primary objective is to characterize the distribution and severity of muscle degeneration using magnetic resonance imaging (MRI) and correlate these findings with motor functionality profiles in a cohort of FSHD patients.
Secondary objectives include:
Describing gait and posture through the analysis of functional parameters using 3D-motion capture technologies.
Quantifying changes in gait and posture parameters before and after personalized orthopedic interventions, assessed with functional clinical scales and 3D-motion capture analysis.
This single-center, observational study will recruit 40 genetically confirmed FSHD patients from routine clinical follow-ups at the Policlinico Gemelli. Patients will undergo MRI to assess the degree of muscle fatty replacement (T1-score) and 3D Gait Analysis to capture biomechanical parameters such as kinematics, ground reaction forces, and muscle activation. Functional assessments will include tests like the Six-Minute Walk Test (6MWT) and Timed Up \& Go Test (TUG), alongside standardized scales for balance, fatigue, pain, and quality of life.
The study seeks to identify novel clinical and biomechanical outcome measures that can stratify FSHD patients and evaluate therapeutic interventions. By correlating MRI patterns with motor deficits and analyzing the impact of orthopedic devices, the study aims to inform personalized rehabilitation strategies and support the design of clinical trials.
Detailed description
Facioscapulohumeral muscular dystrophy (FSHD) is a common hereditary myopathy characterized by asymmetric involvement of facial, scapular, truncal, and lower limb muscles. Disease progression is highly variable, ranging from mild weakness to severe motor disability. Although muscle MRI has emerged as a sensitive tool to detect fatty replacement and disease activity, its integration with quantitative functional assessments is still limited.
This study is designed to explore the relationship between structural changes observed on MRI and functional motor performance in a cohort of adult FSHD patients. By combining whole-body MRI with standardized clinical evaluations and advanced 3D motion analysis, the project aims to provide a multidimensional characterization of motor impairment in FSHD.
The protocol foresees the acquisition of MRI scans and gait analysis data within a defined temporal window, ensuring comparability of structural and functional information. MRI data will be analyzed to derive a semiquantitative T1-score reflecting the burden of fatty infiltration, as well as STIR sequences for signs of muscle inflammation. These imaging findings will then be correlated with clinical outcome measures, including validated severity scales, timed functional tests, and motion capture-derived biomechanical parameters.
An additional exploratory component concerns the assessment of personalized orthopedic interventions, with pre- and post-application gait analysis sessions. This approach will allow the evaluation of the short-term functional impact of targeted assistive devices, generating insights for individualized rehabilitation strategies.
The expected contribution of this study is twofold: first, to validate MRI-based biomarkers and biomechanical metrics as reliable outcome measures for FSHD; and second, to establish an integrated framework for assessing motor impairment that may be applied in future interventional trials and in routine clinical management.
Study design
- Observational model
- Case only
- Time perspective
- Other
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Patients affected by FSHD
Key inclusion criteria (4 listed)
- Age ≥ 18 years. Genetically confirmed diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD).
- Muscle MRI images. 3D Gait Analysis data (with or without personalized orthopedic aids). Both MRI and Gait Analysis performed within a maximum interval of 6 months from each other.
- Regular neurological follow-ups as part of routine clinical care. Signed informed consent for participation in the study.
Key exclusion criteria (4 listed)
- Age < 18 years.
- Muscle MRI images. 3D Gait Analysis data performed within a maximum interval of 6 months from each other.
- Refusal or inability to provide signed informed consent for participation in the study.
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
Global T1-score and Regional T1-score Correlation:
Time frame: At the enrollement
Evaluation of the global T1-score and individual regional T1-scores (neck, shoulder girdle, trunk, pelvis, and lower limbs) derived from MRI ( minimun T1 score 0= normal; maximum T1 score 4= completely involved). Correlation of these scores with motor functionality parameters, including demographic data, clinical severity scales, functional clinical scales, and biomechanical parameters from 3D Gait Analysis.
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 10 Sep 2025.
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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.
Enzo Ricci principal investigator
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
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 FSHD - Facioscapulohumeral Muscular Dystrophy, run by Fondazione Policlinico Universitario Agostino Gemelli IRCCS at 1 site in Italy.
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: enrolling by invitation, as of the sponsor's last update on 10 Sep 2025. 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 Italy. 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?
Global T1-score and Regional T1-score Correlation: (time frame: At the enrollement). 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 Sep 2025.