Ten year follow-up in FSHD: the FOCUS-3 study

Recruiting

Conditions: Landouzy Dejerine disease
10028396
FSHD (facioscapulohumeral muscular dystrophy)
10029317

Registration Number: NL-OMON56838

Lead Sponsor: Radboud Universitair Medisch Centrum

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Recruiting

Sex: Not specified

Target Recruitment: 200

Inclusion Criteria

All 166 genetically confirmed FSHD patients that participated in the FSHD-FOCUS
2 and FSHD-iFOCUS study and were (at the time of the study or before) informed
about the genetic confirmation of FSHD. The 20 newly included patients need to
provide genetical confirmation of the disease.

Exclusion Criteria

No incapacitated persons will be included in this study. Persons with
contra-indications for MRI-scan are excluded for that one procedure, but can
still be included in the study. Contra-indications for MRI-scan include
metallic implants (vascular clips, foreign bodies like metallic splinters in
the eye, coronary and peripheral artery stents, prosthetic heart valves,
pacemakers and ICD*s, cochlear implants, breast tissue expanders and some other
electronic implants or devices), renal insufficiency, previous allergic
reaction to contrast fluids and known claustrophobia.

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>Primary outcomes will be a description of the natural history of FSHD, using<br /><br>the patient reported (questionnaires),<br /><br>clinical (muscle strength, functional assessment, clinical severity scores) and<br /><br>radiological outcome measures (MRI and<br /><br>ultrasound). </p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Secondary outcomes are the sensitivity to change of commonly used clinical<br /><br>outcome measures, as were used in the<br /><br>baseline FSHD-study and the validation of recently developed outcome measures.<br /><br>Furthermore we assess the<br /><br>evolvement of muscle MRI abnormalities in terms of fatty infiltration and the<br /><br>evolvement of muscle<br /><br>ultrasound abnormalities. We will also add bloodsamples to look for epigenetic<br /><br>factors of influence for FSHD and to our<br /><br>Radboudumc Biobank for future research.</p><br>