Magnetic Resonance Imaging and Ultrasound Comparison With Load Evaluation

NCT06227182 | Recruiting DMC

• 1 other identifier: NL84168.091.23
• Study Type: observational
• Target: 100
• Locations: 1 country
• Sites: 1

Brief Summary

Facioscapulohumeral dystrophy (FSHD) is one of the most common hereditary neuromuscular disorders (NMD), with an estimated prevalence of 2000 patients in the Netherlands. Magnetic resonance imaging (MRI) and muscle ultrasound have contributed to an enhanced understanding of the pathophysiology of Facioscapulohumeral Muscular Dystrophy (FSHD). Previously, our group demonstrated the potential presence of an intermediate factor between muscle fiber loss and clinical weakness in FSHD. The influence of disrupted muscle architecture in FSHD on muscle contractile efficiency is a likely candidate for this factor, and remains relatively unexplored. In this study, we aim to assess the use of ultrasound-defined contractile performance, in comparison with current measures including structural MRI, for monitoring disease progression in FSHD.

Conditions

Muscular Dystrophy, Facioscapulohumeral

Keywords

Magnetic Resonance Imaging; Muscle Ultrasound

Outcome Measures

Primary Outcomes (3)

• Stage I: Repeatability and feasibility of the ultrasound-defined muscle contractile performance.

  The feasibility of the ultrasound-defined contractile performance procedure is expressed in the number of dropouts in stage I. The repeatability of the muscle contractile performance procedure will be determined with the coefficient of variation in stage I.

  At baseline

• Stage II: Difference in contractile performance, MRI measures and clinical measures between healthy individuals and patients with FSHD.

  The ultrasound Speckle-Tracking technique is employed during the dynamic approach to establish the muscle contractile performance, determined by muscle strain and displacement. The Ultrafast Shear Wave Elastography Imaging technique is used during the static approach to evaluate muscle stiffness, grey values(Z-scores) and muscle pinnation angle. With the MRI measurements we evaluate the muscle fat fraction (%), contractile volume(mm\^3), muscle edema, muscle inflammation, fiber curvature, fascicle length(mm), PCSA(mm\^2).

  At baseline

• Stage II: Change of contractile performance, MRI measures and clinical measures with FSHD disease progression after 1 year.

  The ultrasound, MRI and clinical measures at baseline are compared with the measures after 1 year. The ultrasound Speckle-Tracking technique is employed during the dynamic approach to establish the muscle contractile performance, determined by muscle strain and displacement. The Ultrafast Shear Wave Elastography Imaging technique is used during the static approach to evaluate muscle stiffness, grey values(Z-scores) and muscle pinnation angle. For FSHD patients in this study the Medical Research Counsel scale (MRC) and/or Ricci score will be known. These measures will also be used to evaluate disease progression. The range of the MRC score is 0-5, in which '0' means no contraction of the muscle and '5' means normal contraction of the muscle. The Ricci score ranges from 0 - 10 (0= no symptoms and 10=wheelchair bound). With the MRI measurements we evaluate the muscle fat fraction (%), contractile volume(mm\^3), fiber curvature, fascicle length(mm), PCSA(mm\^2).

  change from baseline to 1 year follow-up

Study Arms (2)

Healthy individuals

Healthy individuals between 18 and 70 years old.

Diagnostic Test: Muscle ultrasound with surface electromyography and dynamometry; Diagnostic Test: MRI scan

Patients with FSHD

Individuals with clinically and genetically proven FSHD type 1 or type 2.

Diagnostic Test: Muscle ultrasound with surface electromyography and dynamometry; Diagnostic Test: MRI scan

Interventions

Muscle ultrasound with surface electromyography and dynamometry DIAGNOSTIC_TEST

The three procedures are conducted simultaneously for upper and lower extremity muscles. A standard muscle ultrasound preset with a fixed depth of 4 cm or 6 cm will be used, depending on which muscle is visualized in accordance with our routine clinical protocols. During the dynamic approach, the transducer will be placed in a longitudinal fixed position on the muscle using a ProbeFix. All measured contractions in the different muscles will be recorded as short ultrasound videos.

Healthy individuals; Patients with FSHD

MRI scan DIAGNOSTIC_TEST

In Stage II, all patients and 10 healthy participants will undergo MRI. During the MRI procedure, we evaluate muscle fat fraction, muscle contractile volume, muscle inflammation and edema.

Healthy individuals; Patients with FSHD

Eligibility Criteria

• Age: 18 Years - 70 Years
• Sex: all
• Healthy Volunteers: Yes
• Age Groups: Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

In the Netherlands, FSHD has an estimated prevalence of 2000 patients. All patients will be recruited from one of the largest longitudinal follow up database, FSHD-FOCUS, which is maintained at the Dutch Radboudumc expertise center. This FSHD-FOCUS cohortwas started in 2014 and includes around 200 patients with clinically and genetically proven FSHD type 1 and type 2. A 5-year-follow-up study (FSHD-FOCUS2) collected comprehensive data on the natural course of FSHD using multiple clinical outcome measures. Only patients who have given consent during the FSHD-FOCUS study to be contacted for subsequent research, will be contacted for this study.

You may qualify if:

• Age between 18 and 70 years.
• Informed consent is given by the participant.
• Ability to read and understand written and spoken instruction in Dutch.
• Willingness and ability to understand nature and content of the study

You may not qualify if:

• BMI ≥ 35
• Other diseases that could diffusely affect muscle integrity or disturb the imaging appearance beyond that what can be extrapolated.
• Wheelchair dependence
• Pregnancy
• Stage II: Any contra-indications for MRI, including:
• Claustrophobia
• Pacemakers and defibrillators
• Nerve stimulators
• Intracranial clips
• Intraorbital or intraocular metallic fragments
• Cochlear implants and ferromagnetic implants (e.g. implant for scoliosis)
• Inability to lie supine for 60 minutes
• Necessity of (continuous) daytime ventilation
• Scoliosis surgery

Sponsors & Collaborators

• Radboud University Medical Center: lead
• Solve FSHD: collaborator

Study Sites (1)

Radboud university medical center

Nijmegen, Gelderland, Netherlands

RECRUITING

MeSH Terms

Conditions

Muscular Dystrophy, Facioscapulohumeral

Interventions

Electromyography; Magnetic Resonance Imaging

Condition Hierarchy (Ancestors)

Muscular Dystrophies; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Intervention Hierarchy (Ancestors)

Electrodiagnosis; Diagnostic Techniques and Procedures; Diagnosis; Myography; Tomography; Diagnostic Imaging

Study Officials

• Nens Van Alfen, MD. PhD.

  Radboud University Medical Center

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Odette Van Iersel, MSc

CONTACT

0243611111; Odette.vaniersel@radboudumc.nl

Jonne Doorduin, PhD

CONTACT

0243611111; Jonne.Doorduin@radboudumc.nl

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: January 18, 2024
• First Posted: January 26, 2024
• Study Start: April 10, 2024
• Primary Completion (Estimated): January 31, 2027
• Study Completion (Estimated): January 31, 2027
• Last Updated: January 13, 2025

Record last verified: 2024-01

Data Sharing

• IPD Sharing: Will share
• Shared Documents: STUDY PROTOCOL, SAP, ANALYTIC CODE
• Time Frame: Data will become available after publication for long-term. To guarantee the long-term accessibility of data files, the repository may perform data migration. Even if data is removed, audit trails of 'removed' collections are always retained. Likewise, the metadata of published or archived collections are never removed.
• Access Criteria: The data Donders Repository will be used to guarantee long-term accessibility of the research data from this project. The pseudonymized data will be accessible in Donders Repository (soon: Radboud repository (RDR)) under restricted access. Requests for access will be checked, against the conditions for sharing the data as described in the signed Informed Consent. This repository is classified as a highest security-grade data system suitable for preserving large volume, privacy sensitive (i.e. human) research data.

Locations

NL (1)