Facioscapulohumeral muscular dystrophy (FSHD): Advanced diagnostics and extended molecular insights

Completed

Conditions: Facioscapulohumeral muscular dystrophy
FSH
FSHD
Landouzy-Dejerine myopathy
10028302

Registration Number: NL-OMON46477

Lead Sponsor: eids Universitair Medisch Centrum

Brief Summary: Not available

Detailed Description: Not available

Recruitment & Eligibility

Status: Completed

Sex: Not specified

Target Recruitment: 200

Inclusion Criteria

1.FSHD patients:
- 18 years or older
- Genetically proven FSHD or;
- Clinical FSHD diagnosis and permission for genetic testing to confirm the diagnosis;2. Healthy volunteers
- 18 years or older;3. Patients with an unrelated neuromuscular disease
- 18 years or older
- Confirmed neuromuscular disease, like Inclusion Body Myositis (IBM), Ocular pharyngeal muscular dystrophy (OPMD), Myasthenia Gravis (MG) and Lambert Eaton Myasthenic Syndrome (LEMS)

Exclusion Criteria

Healthy volunteers: In order to be eligible to participate in this study, a healthy control must not have:
- A muscle disorder
- A neurological disorder
- A history of a urinary tract disorder interfering with urine sample acquisition

Study & Design

Study Type: Observational invasive

Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>-To assess whether DUX4 detection in urine-derived (epithelial, stem and<br /><br>myogenic) cells can be used as a diagnostic marker for FSHD;<br /><br>-To assess whether DUX4 detection in (cells derived from) skin biopsies or<br /><br>buccal brush biopsies can be used as a diagnostic marker for FSHD;<br /><br>-To generate (induced pluripotent) stem cell and epithelial cell cultures of<br /><br>FSHD patients, healthy individuals, and patients with an unrelated<br /><br>neuromuscular disease<br /><br>-To identify novel biomarkers for FSHD severity in plasma from FSHD patients,<br /><br>healthy individuals, and patients with an unrelated neuromuscular disease. </p><br>

Secondary Outcome Measures