Ultrasound and magnetic resonance imaging to assess muscle contractile performance in FSHD.

Ultrasound and magnetic resonance imaging to assess muscle contractile performance in FSHD. - Muscle+

Status

Recruiting

Phases

Unknown

Study type

Observational

Source

NL-OMON

Registry ID

NL-OMON56047

Enrollment

100

Registered

2023-11-29

Start date

2024-04-10

Completion date

Unknown

Last updated

2025-08-18

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

disease of Landouzy-Dejerine facioscapulohumeral dystrophy

Interventions

None listed

Eligibility

Age

18 Years to 99 Years

Inclusion criteria

Inclusion criteria: All participants: • 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. Patients with FSHD: • Clinically and genetically proven FSHD type 1 or type 2.

Exclusion criteria

Exclusion criteria: A potential subject who meets any of the following criteria will be excluded from participation in this study: All participants: • BMI >= 35 • Other diseases that could diffusely affect muscle integrity or disturb the imaging appearance beyond that what can be extrapolated. • Wheelchair dependence. • Pregnancy In stage 2: participants who will undergo an MRI-scan -Any contra-indications for MRI, including: o Claustrophobia o Pacemakers and defibrillators o Nerve stimulators o Intracranial clips o Intraorbital or intraocular metallic fragments o Cochlear implants o Ferromagnetic implants (e.g. thoracic implant for scoliosis) o Inability to lie supine for 60 minutes o Necessity of (continuous) daytime ventilation o Scoliosis surgery Healthy participants: • Any known nerve or muscle disorder affecting the muscles measured.

Design outcomes

Primary

Measure	Time frame
Stage I: In the first stage, we will focus on the data collected using the Biodex system. The primary outcome parameter is repeatability, where we examine the degree of agreement of the repeated ultrasound measurements with the force generation and surface electromyography (sEMG) measurements: o Biodex: Dynamometric force generation Peak torque (Nm) Time to peak torque (mSec) Angle of peak torque (Deg) Time rate of stress development (Nm) o Ultrasound: speckle detection Deformation (%) Displacement (mm) Muscle contractile performance o Ultrasound: Ultrafast Shear Wave Elastography Imaging (UF-SWEI) Muscle stiffness (N/mm2) o sEMG Neural input/activation (mV) Stage I data will first be collected from 15 healthy participants by performing 3 repeated measures to develop the most feasible and repeatable protocol for this group. Subsequently, the same repetitive measurements are performed in 10 patients with FSHD type 1 or 2 to check whether the protocol is also feasible and repeatable in patients or whether adjustments are required. Phase II: In addition to the measurements in stage I, stage II will focus on collecting Biodex measures from more patients (n=50) and healthy participants (n=25). Furthermore, all patients will receive an MRI scan. Based on the MRI data, we mainly look at the amount of fat and edema present in the muscle, but also at the muscle contraction volume. In stage 2, the primary outcome parameter is the relationship between muscle contraction performance, clinical measures, other ultrasound and MRI measures in both healthy participants and patients with FSHD. The second outcome parameter is the responsiveness to change after 1 year of follow-up of the parameters mentioned in the stages above.	—

Measure

Time frame

Stage I: In the first stage, we will focus on the data collected using the Biodex system. The primary outcome parameter is repeatability, where we examine the degree of agreement of the repeated ultrasound measurements with the force generation and surface electromyography (sEMG) measurements: o Biodex: Dynamometric force generation Peak torque (Nm) Time to peak torque (mSec) Angle of peak torque (Deg) Time rate of stress development (Nm) o Ultrasound: speckle detection Deformation (%) Displacement (mm) Muscle contractile performance o Ultrasound: Ultrafast Shear Wave Elastography Imaging (UF-SWEI) Muscle stiffness (N/mm2) o sEMG Neural input/activation (mV) Stage I data will first be collected from 15 healthy participants by performing 3 repeated measures to develop the most feasible and repeatable protocol for this group. Subsequently, the same repetitive measurements are performed in 10 patients with FSHD type 1 or 2 to check whether the protocol is also feasible and repeatable in patients or whether adjustments are required. Phase II: In addition to the measurements in stage I, stage II will focus on collecting Biodex measures from more patients (n=50) and healthy participants (n=25). Furthermore, all patients will receive an MRI scan. Based on the MRI data, we mainly look at the amount of fat and edema present in the muscle, but also at the muscle contraction volume. In stage 2, the primary outcome parameter is the relationship between muscle contraction performance, clinical measures, other ultrasound and MRI measures in both healthy participants and patients with FSHD. The second outcome parameter is the responsiveness to change after 1 year of follow-up of the parameters mentioned in the stages above.

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Secondary

Measure	Time frame
N.A.	—

Countries

Netherlands

Outcome results