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

Recruiting

Conditions: FSHD

Registration Number: NL-OMON28492

Lead Sponsor: Radboudumc

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

Target Recruitment: 100

Inclusion Criteria

1. Patient participated in the FSHD-FOCUS 2 study.
2. Patient underwent a muscle ultrasound in the FSHD-FOCUS 2 study.

Exclusion Criteria

1. Incapacitated persons will not be included in this study.
2. Patient is unable to visit the Radboudumc (for example due to severe physical handicap).

Extra exclusion criteria for subgroup:
1. Patients who are wheelchair bound. As most of their leg muscles will be mostly fatty infiltrated, the ultrasound measurements are not reliable. Furthermore, they will be unable to complete most of the clinical measurements.
2. Patients who have a history of any illness or clinical condition that, in the opinion of the investigator, might confound the results of the measurements (e.g. Parkinson’s disease or a mitochondrial myopathy).
3. Patients who are participating in a clinical trial in the which they receive an investigational product that may affect muscle function.

Study & Design

Study Type: Observational non invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
Muscle ultrasound on facial, trunk and extremity muscles will be repeated to assess structural muscle changes over one and a half 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 Outcome Measures

Name	Time	Method
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. Furthermore, blood samples will be taken immunological studies and for storage in the Radboudumc biobank for future research.