Myotonic Dystrophy 1NCT05662150
Low-frequency Repetitive Nerve Stimulation in Myotonic Dystrophy Type 1
A study testing Low frequency repetitive stimulation in people with Myotonic Dystrophy 1, run by Vrije Universiteit Brussel at 1 site in Belgium.
Trial summary
The study design is a prospective cohort study. It aims to evaluate the neuromuscular junction in dystrophic myotonia 1 (DM 1) using low-frequency repetitive nerve stimulation (RNS) on several nerve-muscle pairs of the one side including proximal and distal muscles of upper and lower extremities. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Myotonic Dystrophy 1
- What is being tested?
- Low frequency repetitive stimulation
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 9 participants
- Where
- 1 siteBelgium
- Study dates
- 1 Sep 2021to 20 Jun 2022
- Phase
- Interventional
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Who may be able to join
- genetically confirmed DM1
Who cannot join
- minor age
- auto-immune diseases
- medical conditions involving the neuromuscular junction: (myasthenia gravis, Lambert-Eaton myasthenic syndrome, congenital myasthenia syndromes).
Trial locations and contacts
1 site in 1 country.
About this study
Official title: Is Low-frequency Repetitive Nerve Stimulation a Reliable Test to Evaluate the Neuromuscular Junction in Myotonic Dystrophy Type 1
The study design is a prospective cohort study. It aims to evaluate the neuromuscular junction in dystrophic myotonia 1 (DM 1) using low-frequency repetitive nerve stimulation (RNS) on several nerve-muscle pairs of the one side including proximal and distal muscles of upper and lower extremities. First, it will be investigated whether a decrement with 3 Hz stimulation, as described in literature, is reproducible in our patient population. If this is the case, it will be examined whether it is the consequence of a dysfunction of the neuromuscular junction or rather linked to a hypo-excitability of some muscle fibers due to myotonia. For this purpose, additional tests including short exercise test (to observe any decrement resulting from an inexcitability in myotonic muscle fibers) and needle EMG (for mapping myotonic discharges in the muscles tested with repetitive nerve stimulation) will be performed. Single fiber-EMG will not be provided in this study as an abnormal result does not necessarily indicate a dysfunction of the neuromuscular junction but could just as well be due to the muscular dystrophy in the context of DM1. Finally, it will be investigated if there is a correlation between the decrement
with 3 Hz stimulation and clinical signs as fixed muscle weakness (via Medical Research Counsil (MRC) scale, DM-activ scale [30]) and fatigue (via MG-ADL scale).
- Conditions
- Myotonic Dystrophy 1
- Being tested
- Low frequency repetitive stimulation
- Medical subject headings
- Myotonic Dystrophy
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Low frequency repetitive stimulationDiagnostic test
Neuromuscular transmission was tested by using short-lasting low frequency RNS (10 stimuli at 3 Hz). The test was applied on the abductor digiti minimi (ADM), anterior tibial, orbiculis oculi, trapezius, anconeus and EDB muscles of one side, in this particular order, by supramaximal stimulation of the corresponding nerve.
| Study group | Role | What they receive |
|---|---|---|
| Questionnaires | Active comparator | Patients with DM1 were asked to complete a questionnaire to rate a 25-item activity scale (DM1-Activ) and the Myasthenia Gravis Activity of Daily Life scale (MG-ADL) to rate their level of functional burden. For the DM1-Activ a score of 40 alludes no impairment and a score of 0 indicates the highest functional burden of physical activity. This scale has proven to be practical, reliable and valid. For the MG-ADL the total score ranges from 0 to 24, a score of 0 denotes no and 24 the highest functional burden. It should be noted that this scale is not adjusted for DM1. The rationale was to gain information about muscle fatigue and consequently the neuromuscular junction. Receives: Diagnostic Test: Low frequency repetitive stimulation |
| grip strength via dynamometer | Active comparator | The isometric grip strength was tested by using a dynamometer. The subject will be asked to perform an increasing force against the dynamometer over a period of several seconds. Receives: Diagnostic Test: Low frequency repetitive stimulation |
| short exercise test | Active comparator | The subject was asked to contract the ADM muscle as hard as possible in isometric conditions for 10 seconds. CMAP's was recorded 2 seconds after the end of the exercise and then every 10 seconds for 50 seconds. Receives: Diagnostic Test: Low frequency repetitive stimulation |
| needle EMG | Active comparator | The electrical myotonia of each examined muscle was scored according to the Streiss and Sun scale. Receives: Diagnostic Test: Low frequency repetitive stimulation |
What is being measured
The primary outcome is the main question the study is designed to answer.
Reproducibility of rapid decrement at low frequency stimulation.
Low stimulation frequency was tested in 6 muscles, to verify the presence of an anomalie of the neuromuscular transmission.
Measured: 1 year
Secondary outcomes (2)
Correlation of decrement with grade of EMG-myotonia
Search of correlation between decrement, obtained bij low frequency stimulation, and EMG-myotonia (via needle EMG), to differentiate muscle fiber hypoexcitability in the context of myotonia, from neuromuscular junction block resulting in decrement of the CMA
Measured: 1 year
Is there any clinical expression (muscle fatigability) of a possible neuromuscular junction dysfunction
Search of correlation between muscle fatique (questionnaires and grip strength via dynamometer) and decrement of CMAP (compound muscle action potential).
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted22 Dec 2022
- Study start1 Sep 2021
- Primary completion11 Jun 2022
- Study completion20 Jun 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Myotonic Dystrophy 1Studies of the same condition, open and under way.
- More trials run by Vrije Universiteit BrusselThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 9 participants (actual)
Sponsor and investigators
- Lead sponsor
- Vrije Universiteit Brussel
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Jella De Ville, Vrije Universiteit Brussel
- Investigators
- Jella De Ville, MD, Principal investigator, Universitair Ziekenhuis Brussel
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT05662150
- Sponsor's protocol ID
- Steinert study
- Status last verified
- Dec 2022
- First submitted
- 14 Oct 2022
- Last updated
- 22 Dec 2022
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 22 Dec 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Is Low-frequency Repetitive Nerve Stimulation a Reliable Test to Evaluate the Neuromuscular Junction in Myotonic Dystrophy Type 1
- ClinicalTrials.gov ID
- NCT05662150
- Acronym / sponsor ID
- Steinert study
- Conditions
- Myotonic Dystrophy 1
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 9 participants (actual)
- Lead sponsor
- Vrije Universiteit BrusselUniversity, hospital or other
- Study start
- 1 Sep 2021 (actual)
- Primary completion
- 11 Jun 2022 (actual)
- Study completion
- 20 Jun 2022 (actual)
- First posted
- 22 Dec 2022 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The study design is a prospective cohort study. It aims to evaluate the neuromuscular junction in dystrophic myotonia 1 (DM 1) using low-frequency repetitive nerve stimulation (RNS) on several nerve-muscle pairs of the one side including proximal and distal muscles of upper and lower extremities. First, it will be investigated whether a decrement with 3 Hz stimulation, as described in literature, is reproducible in our patient population. If this is the case, it will be examined whether it is the consequence of a dysfunction of the neuromuscular junction or rather linked to a hypo-excitability of some muscle fibers due to myotonia. For this purpose, additional tests including short exercise test (to observe any decrement resulting from an inexcitability in myotonic muscle fibers) and needle EMG (for mapping myotonic discharges in the muscles tested with repetitive nerve stimulation) will be performed. Single fiber-EMG will not be provided in this study as an abnormal result does not necessarily indicate a dysfunction of the neuromuscular junction but could just as well be due to the muscular dystrophy in the context of DM1. Finally, it will be investigated if there is a correlation between the decrement
with 3 Hz stimulation and clinical signs as fixed muscle weakness (via Medical Research Counsil (MRC) scale, DM-activ scale [30]) and fatigue (via MG-ADL scale).
Study design
- Primary purpose
- Basic science
- Allocation
- Randomised
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 4
| Arm | Type | Receives |
|---|---|---|
| Questionnaires | Active comparator | Diagnostic Test: Low frequency repetitive stimulationPatients with DM1 were asked to complete a questionnaire to rate a 25-item activity scale (DM1-Activ) and the Myasthenia Gravis Activity of Daily Life scale (MG-ADL) to rate their level of functional burden. For the DM1-Activ a score of 40 alludes no impairment and a score of 0 indicates the highest functional burden of physical activity. This scale has proven to be practical, reliable and valid. For the MG-ADL the total score ranges from 0 to 24, a score of 0 denotes no and 24 the highest functional burden. It should be noted that this scale is not adjusted for DM1. The rationale was to gain information about muscle fatigue and consequently the neuromuscular junction. |
| grip strength via dynamometer | Active comparator | Diagnostic Test: Low frequency repetitive stimulationThe isometric grip strength was tested by using a dynamometer. The subject will be asked to perform an increasing force against the dynamometer over a period of several seconds. |
| short exercise test | Active comparator | Diagnostic Test: Low frequency repetitive stimulationThe subject was asked to contract the ADM muscle as hard as possible in isometric conditions for 10 seconds. CMAP's was recorded 2 seconds after the end of the exercise and then every 10 seconds for 50 seconds. |
| needle EMG | Active comparator | Diagnostic Test: Low frequency repetitive stimulationThe electrical myotonia of each examined muscle was scored according to the Streiss and Sun scale. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
Key inclusion criteria (1 listed)
- genetically confirmed DM1
Key exclusion criteria (3 listed)
- minor age
- auto-immune diseases
- medical conditions involving the neuromuscular junction: (myasthenia gravis, Lambert-Eaton myasthenic syndrome, congenital myasthenia syndromes).
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| Low frequency repetitive stimulationNeuromuscular transmission was tested by using short-lasting low frequency RNS (10 stimuli at 3 Hz). The test was applied on the abductor digiti minimi (ADM), anterior tibial, orbiculis oculi, trapezius, anconeus and EDB muscles of one side, in this particular order, by supramaximal stimulation of the corresponding nerve. | Diagnostic test | Questionnaires, grip strength via dynamometer, needle EMG, short exercise test |
Primary outcome
Reproducibility of rapid decrement at low frequency stimulation.
Time frame: 1 year
Low stimulation frequency was tested in 6 muscles, to verify the presence of an anomalie of the neuromuscular transmission.
2 secondary outcomes
Correlation of decrement with grade of EMG-myotonia
Time frame: 1 year
Is there any clinical expression (muscle fatigability) of a possible neuromuscular junction dysfunction
Time frame: 1 year
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Dec 2022.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Jella De Ville, MD principal investigator
Universitair Ziekenhuis Brussel
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Low frequency repetitive stimulation in people with Myotonic Dystrophy 1, run by Vrije Universiteit Brussel at 1 site in Belgium.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 1 inclusion and 3 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 22 Dec 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in Belgium. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Reproducibility of rapid decrement at low frequency stimulation. (time frame: 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Dec 2022.