One year follow-up in FSHD: biomarkers and outcome measures on the road to therapy

Completed

Conditions: FSHD (facioscapulohumeral muscular dystrophy)
Landouzy
10028396

Registration Number: NL-OMON49566

Lead Sponsor: Radboud Universitair Medisch Centrum

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Completed

Sex: Not specified

Target Recruitment: 100

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

1. Incapacitated persons will not be included in this study.
2. Patients who are unable to visit the Radboudumc.

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Muscle ultrasound on facial, trunk and extremity muscles will be repeated to<br /><br>assess structural muscle changes over one year. A subgroup of 30 patients will<br /><br>undergo muscle ultrasound every three months over the span of one year to<br /><br>assess the evolvement of ultrasound abnormalities. Raw muscle echo intensities<br /><br>will be converted to z-scores*that is, the number of standard deviations from<br /><br>the mean score for gender, age, and weight using previously established<br /><br>reference values. </p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Changes in functional status will be assessed by the Motor Function Measure,<br /><br>6-minute walk test, clinical severity scores in combination with facial<br /><br>weakness and muscle strength (MRC-scale), and the newly developed anti-gravity<br /><br>tests. The responsiveness of existing and recently developed patient-reported<br /><br>outcome measures (SIP68, Rasch-built FSHD-RODS, FSHD-specific questionnaire on<br /><br>facial weakness) will be evaluated. Also in 50 participants a muscle MRI will<br /><br>be performed, to assess the fatfraction in the muscles of both legs.<br /><br>Furthermore, blood samples will be taken immunological studies and for storage<br /><br>in the Radboudumc biobank for future research.</p><br>