FSHD (facioscapulohumeral muscular dystrophy) Landouzy
Conditions
Interventions
None listed
Sponsors
Radboud Universitair Medisch Centrum
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: 100 genetically confirmed FSHD patients that participated in the FSHD-FOCUS 2 study (CMO 2014-121) who underwent muscle ultrasound as part of the study.
Exclusion criteria
Exclusion criteria: 1. Incapacitated persons will not be included in this study. 2. Patients who are unable to visit the Radboudumc.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Muscle ultrasound on facial, trunk and extremity muscles will be repeated to assess structural muscle changes over one year. A subgroup of 30 patients will undergo muscle ultrasound every three months over the span of one year to assess the evolvement of ultrasound abnormalities. Raw muscle echo intensities will be converted to z-scores*that is, the number of standard deviations from the mean score for gender, age, and weight using previously established reference values. | — |
Secondary
| Measure | Time frame |
|---|---|
| Changes in functional status will be assessed by the Motor Function Measure, 6-minute walk test, clinical severity scores in combination with facial weakness and muscle strength (MRC-scale), and the newly developed anti-gravity tests. The responsiveness of existing and recently developed patient-reported outcome measures (SIP68, Rasch-built FSHD-RODS, FSHD-specific questionnaire on facial weakness) will be evaluated. Also in 50 participants a muscle MRI will be performed, to assess the fatfraction in the muscles of both legs. Furthermore, blood samples will be taken immunological studies and for storage in the Radboudumc biobank for future research. | — |
Countries
Netherlands
Outcome results
None listed