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 readiness for FSHD research.
ID
Source
Brief title
Condition
- Musculoskeletal and connective tissue disorders congenital
- Musculoskeletal and connective tissue disorders congenital
- Neuromuscular disorders
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 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. Disease severity and course are
highly variable in facioscapulohumeral muscular dystrophy (FSHD), rendering it
more difficult to establish a treatment effect of new therapies in clinical
trials. Natural history studies of up to five years
have shown small changes in clinical outcomes and muscle imaging on a group
level. However, we can still not predict
disease course more precisely on an individual level. Additionally, there is
still an unmet need for outcome measures
to capture small changes in clinical status reliably.
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 readiness
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.
Geert Grooteplein Zuid 10
Nijmegen 6525 GA
NL
Geert Grooteplein Zuid 10
Nijmegen 6525 GA
NL
Listed location countries
Age
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.
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 | NL86309.091.24 |