In this study we want to investigate if the muscle-relaxation time (muscle-RT), calculated from force profiles obtained with two different experimental methods (1) voluntary handgrip- and (2) peripheral nerve stimulation myometry, is a reliable and…
ID
Source
Brief title
Condition
- Muscle disorders
Synonym
Research involving
Sponsors and support
Intervention
Outcome measures
Primary outcome
Outcome measures are the mean muscle-RT and intraclass-correlation-coefficient
(ICC). Differences in mean muscle-RT between the group of healthy volunteers
and each of the patientgroups will be a measure for the reliability and
robustness of the muscle-RT as outcome measure for myotonia. This reliability
will be calculated for both methods within the different patientgroups. To
determine the reproducability of these measurements within both methods, the
ICC will also be calculated.
Secondary outcome
n.v.t.
Background summary
Myotonia is defined as an elongation in skeletal muscle relaxation after
voluntary muscle contraction or percussion and derives from a hyperexcitabel
state of the sarcolemmal membrane. Myotonia is the cardinal symptom in
dystrophic (DMs) and non-dystrophic myotonic syndromes (NDMs). Currently, there
is no evidence-based, safe and effective treatment for patients with DMs and
NDMs. This year, a multiple N-of-1 trial is scheduled to asses the safety and
efficacy of mexiletine in NDM-patients. In the future, a trial with anti-sense
oligunucleotide treatment to rescue the mRNA-defect in patients with DMs will
be scheduled. In order to being able to measure de efficacy of both treatments
will be the availability of reliable, validated outcome-measures for the
quantificatioin of myotonia, besides the already available subjective outcome
measures.
Study objective
In this study we want to investigate if the muscle-relaxation time (muscle-RT),
calculated from force profiles obtained with two different experimental methods
(1) voluntary handgrip- and (2) peripheral nerve stimulation myometry, is a
reliable and reproducable outcome measure for the quantification of myotonia in
NDMs and DMs. Moreover, muscle-RT data of voluntary handgrip- and peripheral
nerve stimulation myometry will be compared to determine which of these two
methods can be used best in future medication trials.
Study design
Observational research without invasive measurements.
Study burden and risks
Advantages: Results from this study will be used to develop outcome measures
for future treatment studies. Disadvantages: We ask study participants ±2 times
85 minutes of their time for performing the measurements. Furthermore,
participants will be asked to eat or drink nothing (except for water) in the
two hours prior to study measurements and to keep a low potassium diet in the
three days before the study measurements and during study measurements. Risks
are minimal and could consist of some extra muscle stiffness or muscle pain.
Nerve stimulation could give an unpleasant sensation during measurements.
Reinier postlaan 1
Postbus 9101, 6500 HB Nijmegen
NL
Reinier postlaan 1
Postbus 9101, 6500 HB Nijmegen
NL
Listed location countries
Age
Inclusion criteria
Patients with a genetically confirmed mutation in the gene encoding for the skeletal muscle sodium channel (SCN4A) or chloride channel (CLCN1) or a genetically determined mutation in the DMPK-gene, with clinical presence of hand (action) myotonia and between 18 and 65 years of age. Groups will be age and sex matched.
Exclusion criteria
Comorbidity in form of a neurological or metabolic disorder that can interfere with normal muscle function. Usage of medication that can influence myotonia or muscle force (such as sodium channel blockers as widespreas used for cardiological and neurological diseases, that might also influence skeletal muscle channels). Cardial or Nephrological comoborbidity that do not allow a potassium low diet. Pregnant women. Unwillingness or unable to sign informed consent forms or to place the hand or lower arm in de myometry test set-up.
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 | NL38883.091.11 |