The goal of this study is to perform an additional follow-up visit on the FSHD-FOCUS cohort one year after the five year follow-up visit to assess the responsiveness over one and a half year, a reasonable timeframe for a clinical trial, of highly…
ID
Source
Brief title
Condition
- Musculoskeletal and connective tissue disorders congenital
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Muscle ultrasound on facial, trunk and extremity muscles will be repeated to
assess structural muscle changes over one 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
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. Also in 50 participants a muscle MRI will
be performed, to assess the fatfraction in the muscles of both legs.
Furthermore, blood samples will be taken immunological studies and for storage
in the Radboudumc biobank for future research.
Background summary
Facioscapulohumeral muscular dystrophy (FSHD) is one of the most common adult
muscular dystrophies with a prevalence of 12/100.000. It is characterized by
progressive muscle weakness and wasting of muscle of the face, extremities and
trunk, which leads to loss of function and major disability. In 2014 we
characterized a large cohort of over 200 FSHD patients both clinically and
genetically in great detail in the FSHD-FOCUS study. A five year follow-up
study is currently ongoing that will provide extensive data on the natural
history of the disease through various clinical outcome measures and muscle
imaging biomarkers. However, five year follow-up is too long to assess the
responsiveness of these outcomes over a reasonable timeframe for a clinical
trial. Additionally, after the baseline measurements of this cohort in 2014 new
highly promising patient-reported and functional outcome measures and imaging
biomarkers have been developed on which data baseline data is collected in the
current follow-up study.
Study objective
The goal of this study is to perform an additional follow-up visit on the
FSHD-FOCUS cohort one year after the five year follow-up visit to assess the
responsiveness over one and a half year, a reasonable timeframe for a clinical
trial, of highly promising clinical outcome measures identified in the
FSHD-FOCUS study and muscle ultrasound as an imaging biomarker.
Study design
Longitudinal, observational study
Study burden and risks
Participants will be asked for a single or multiple visit(s) to the outpatient
clinic at the department of neurology. Their medical history will be taken and
they will undergo a clinical examination. Several questionnaires can be
completed at home through on online system (Castor). A muscle ultrasound and
pssibly a muscle MRI will be performed and blood samples will be collected. We
classify the risk of this study as negligible.
Reinier Postlaan 4
Nijmegen 6525 GC
NL
Reinier Postlaan 4
Nijmegen 6525 GC
NL
Listed location countries
Age
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.
Design
Recruitment
Followed up by the following (possibly more current) registration
No registrations found.
Other (possibly less up-to-date) registrations in this register
No registrations found.
In other registers
| Register | ID |
|---|---|
| CCMO | NL73343.091.20 |