The primary objective is to determine if physical fatigability is present in infantile and young adult patients with FSHD.The secondary objectives are to determine if there is an association between fatigability ando Disease severityo Muscle…
ID
Source
Brief title
Condition
- Musculoskeletal and connective tissue disorders congenital
- Musculoskeletal and connective tissue deformities (incl intervertebral disc disorders)
- Neuromuscular disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
The main study parameter will be whether fatigability is present in children en
young adults with FSHD. Therefore, we propose to use the endurance shuttle box
and block test (ESBBT) and the endurance shuttle walk test (ESWT).
In short, we will instruct subjects to repeatedly move 10 blocks over a
partition (ESBBT) or walk 10 meters (ESWT) at 75% of their previously
determined, individualized maximum speed. The test will be ended when the
subject is not able to keep up the pre-set pace during two consecutive shuttles
or when the maximum duration of 20 minutes is reached (test completion).
Further, we will describe these two tests in more detail.
For each performed test we will document two outcomes:
- Drop out (yes/no): the inability to endure the maximum duration of 20 minutes
- Time to limitation (s)
Increased fatigability is defined as the presence of drop out on the ESBBT or
ESWT.
The time to limitation is used as a measure of severity of fatigability
Secondary outcome
Secondary study parameters are:
- Disease severity (muscle strength, FSHD score, Ricci score, Motor function
measure)
- Muscle structure (muscle ultrasonography)
- Quality of life (questionnaires)
- Pain (questionnaire)
- Fatigue (questionnaire, observed signs of fatigue)
Other study parameters are:
- Genotype characteristics, if present (D4Z4 repeat length)
- Demographic and clinical characteristics (age, sex, length and weight)
- Identification of environmental disease modifying factors (physical activity,
co-morbidity and medication use)
Background summary
Facioscapulohumeral dystrophy (FSHD) is one of the most common hereditary
muscular dystrophies in the Netherlands.
The age of symptom onset is mostly in the second or third decade, but in
approximately 20% of all the patients symptoms start in childhood.
This subgroup is historically associated with a faster disease progression,
severe weakness and more systemic complications (epilepsia, hearing problems,
mental retardation and cardial arrhytmias).
Previously, we studies since 2016 the natural history of FSHD in childhood.
This showed that 70% of children suffers from fatigue. This high prevalence is
a reason for concern, especially when we take into account the correlation
between age and fatigue severity, with increasing age leading to a further
deterioration of quality of life. In this way, fatigue could have a substantial
effect on participation in school and sports and on their professional
development. Knowlede of fatigue and its causes is essential in order to
improve the management of childhood FSHD.
In children with spinal muscular atrophy (SMA) recent research showed that
fatigability (the inability to continue exercise at the same intensity wit a
resultant deterioration in performance) was present in 54-73% of patients. This
was measured by some recently developed and validated shuttle test.
In our earlier observations, the functional exercise capacity of children with
FSHD measured by the 6 minute walk test was diminished, and the average gait
velocity of the last minute decreased compared to the first minute. An
important limitation of this test is that the result is affected by the effort
of the child. However, in clinical practice we found that children often
complain about fatigue in the ocntext of long walks or during a day to a theme
park.
By combining this, we suspect that muscle fatigability might be involved in
childhood FSHD.
Study objective
The primary objective is to determine if physical fatigability is present in
infantile and young adult patients with FSHD.
The secondary objectives are to determine if there is an association between
fatigability and
o Disease severity
o Muscle strength
o Motor function
o Perceived fatigue
o Perceived pain
o Quality of life
Study design
This study is a cross-sectional, observational study.
Intervention
No intervention
Study burden and risks
This study is an observational study on a childhood disease and therefore must
include minors as subjects. The burden associated with participation is
minimized and the risk of participation is negligible. There are no invasive
procedures, the used test are not painful. If we observe any inconveniences
during participation, we will stop the test. .
Participants visit the hospital for half a day. We d
Reinier Postlaan 4
Nijmegen 6525 GC
NL
Reinier Postlaan 4
Nijmegen 6525 GC
NL
Listed location countries
Age
Inclusion criteria
- patients with genetically proven FSHD
- Disease onset in childhood (<18 years)
-Current age 8-25 years
- The ability to follow test instructions
Exclusion criteria
- Loss of ambulation (the inability to perform the endurance shuttle walk test)
- A history of myasthenia gravis or another neuromuscular disorder known to
cause fatigability or affect the neuromuscular junction function
- The use of drugs that change the neuromuscular transmission
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 | NL80728.000.23 |