FSHD Landouzy-Dejerine disease
Conditions
Interventions
None listed
Sponsors
Neurologie
Eligibility
Age
18 Years to 99 Years
Inclusion criteria
Inclusion criteria: • Clinical diagnosis of FSHD1 with genetic confirmation as previously described for FSHD110 • Age 18-75 years • Symptomatic limb weakness • Able to walk 30 feet without the support of another person.
Exclusion criteria
Exclusion criteria: • Cardiac or respiratory dysfunction • Orthopedic conditions that preclude safe testing of muscle function • Regular use of available muscle anabolic/catabolic agents such as corticosteroids, oral testosterone or derivatives, or oral beta agonists • Use of an experimental drug in an FSHD clinical trial within the past 90 days • Pregnancy.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Reliability, validity, responsiveness of the newly developed functional outcome measure FSHD-COM will be assessed. | — |
Secondary
| Measure | Time frame |
|---|---|
| The FSHD-COM will be correlated and compared to traditional outcome measures used in FSHD, including manual muscle testing, quantitative muscle testing, patient-reported outcomes (PROMIS57, upper extremity functional index UEFI, FSHD-health index FSHD-HI), clinical severity score and FSHD clinical score. | — |
Countries
Netherlands
Outcome results
None listed