Obtain longterm follow-up data in a large and clinically and genetically well-characterized cohort and thereby contributing to knowledge about the disease course and clinical trial preparedness for FSHD research.
ID
Source
Brief title
Condition
- Musculoskeletal and connective tissue disorders congenital
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Primary outcomes will be a description of the natural history of FSHD, using
the patient reported (questionnaires), clinical (muscle strength, functional
assessment, clinical severity scores) and radiological outcome measures (MRI
and ultrasound).
Secondary outcome
Secondary outcomes are the sensitivity to change of commonly used clinical
outcome measures, as were used in the baseline FSHD-study and the validation of
recently developed outcome measures. Furthermore we assess the evolvement of
muscle MRI abnormalities in terms of fatty infiltration and TIRM positivity and
the evolvement of muscle ultrasound abnormalities. We will also add
bloodsamples to look for epigenetic factors of influence for FSHD and to our
Radboudumc Biobank for future research.
Background summary
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant
inherited progressive muscular dystrophy, characterized by asymmetrical
weakness and wasting of facial, shoulder girdle and upper arm muscles, followed
by weakness of the muscles of the trunk and the lower extremities. Over the
last few years, our knowledge on the pathogenic mechanism in FSHD has expanded.
However, we have not yet explained the variability in onset, disease course and
penetrance, nor the asymmetric nature of the disease. Our hypothesis is, that
other (epi)genetic and environmental or lifestyle factors must be involved in
this disease. It is important to identify these factors, as some of them may be
considered as *natural moderators* of the disease and may contribute to
development of new treatment strategies. If such a treatment becomes available,
well controlled clinical trials will be warranted. Conditions for clinical
trial readiness should therefore be met, such as validating measures of
activity impairment and patient reported outcome measures, identification of
serum biomarkers and longitudinal muscle MRI data with a correlation of imaging
to muscle function. This study will provide all this for a cohort of 200 FSHD
patients with a follow-up of five years.
Study objective
Obtain longterm follow-up data in a large and clinically and genetically
well-characterized cohort and thereby contributing to knowledge about the
disease course and clinical trial preparedness for FSHD research.
Study design
Cross-sectional, observational study.
Study burden and risks
Participants will visit the outpatient clinic at the department of neurology.
Their medical history will be taken, they will undergo a clinical examination
and they will fill out questionnaires online (at home). Blood samples will be
collected for storage of blood in a biobank for future research and to check
for more epigenetic factors of interest. During the same visit a magnetic
resonance imaging (MRI) of muscles of both legs and possibly leg muscle
ultrasound will be performed. Complications of venapunctions are very uncommon
and include hematoma, which will resolve itself.
Reinier Postlaan 4
Nijmegen 6525 GC
NL
Reinier Postlaan 4
Nijmegen 6525 GC
NL
Listed location countries
Age
Inclusion criteria
All 203 genetically confirmed FSHD patients that participated in the FSHD-FOCUS
study (CMO 2014-121) and were (at the time of the study or before) informed
about the genetic confirmation of FSHD.
Exclusion criteria
Incapacitated persons will not be included in this study. FSHD patients that
participated in the FSHD-FOCUS study but were not informed about the genetic
testing results for FSHD will not 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.
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 | NL68245.091.18 |