Charcot-Marie-Tooth DiseaseESTABLISHNCT04980807
Observational Study of Neuromuscular Function in CMT Type 1&2 and Healthy Controls
An observational study of Charcot-Marie-Tooth Disease, run by NMD Pharma A/S at 2 sites in 2 countries.
Trial summary
The primary aim of this study is to discover whether patients with CMT type 1 and 2 have neuromuscular junction transmission deficits. The secondary aim is to collect information of different clinical and electrophysiological test procedures to perform possible future clinical trials in CMT patients. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Charcot-Marie-Tooth Disease
- How many people
- 30 participants
- Where
- 2 sitesin 2 countries
- Study dates
- 7 Apr 2021to 3 Mar 2022
- Phase
- Observational
- 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 18 years and older
- All sexes
- Healthy volunteers accepted
- Adult, Older adult
Study population: Eligible CMT patients will be invited to participate at the respective study sites. Age matched healthy volunteers will be recruited through advertisement at the respective study sites
Who may be able to join
- Age ≥ 18 years
- Diagnosis of CMT confirmed by:
- Clinical presentation and electro diagnostics or genetics
- Physical Features (all must apply): 1) Ambulation for at least 10 meters, without a brace 2) Left and right ankle plantar flexion Medical Research Council (MRC) grade 2 to 5, inclusive 3) Left and right ankle dorsiflexion MRC manual muscle testing (MMT) grade 2 to 4+, inclusive.
- Ability to adhere to the study visit schedule/procedures, and to understand and comply with protocol requirements
- Stable concomitant medications for 2 months prior to enrolment
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- Signed written informed consent
- Healthy male or female volunteers
- Age ≥18 years
- Able to give written informed consent
Who cannot join
- Severe deformity or ankle contracture that would sufficiently limit passive range of motion to affect assessment of dorsiflexion strength
- Ulceration that would interfere with functional ability
- Recent major surgery
- Significant change in physical activity or exercise (e.g., significant increase or decrease in intensity or frequency) within 8 weeks before Study Day 1 or inability to maintain the baseline level of physical activity throughout the study
- Any disability or condition that would prevent completion of the study tasks
- Moderate to severe Neuropathic or inflammatory/musculoskeletal pain that would interfere with performance of the tests
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- A diagnosis of a primary NMJ disorder such as myasthenia gravis, Lambert Eaton Myasthenic Syndrome or congenital myasthenic disorder
- Pregnant
- Requiring prescription medicines likely to interfere with electromyography (EMG) recordings
- Presence of current or previous medical condition which might interfere with participation in the study
Trial locations and contacts
2 sites in 2 countries.
2 sites in 2 countries
About this study
Official title: An Open Observational Study of Clinical and Electrophysiological Outcomes in Male and Female Patients With CMT Type 1 & 2, and Aged-matched Healthy Controls
The primary aim of this study is to discover whether patients with CMT type 1 and 2 have neuromuscular junction transmission deficits.
The secondary aim is to collect information of different clinical and electrophysiological test procedures to perform possible future clinical trials in CMT patients.
Read the detailed description
The study is a prospective observational pilot study involving two investigational sites:
- Department of Neurology, Arhus University Hospital
- Department of Neurology, Ohio State University
A total of 20 patients with Charcot-Marie-Tooth (CMT) disease and 10 healthy age-matched controls will be included with each site including 10 CMT patients and 5 Healthy Controls. CMT patients will undergo electrophysiological (repetitive nerve stimulation and single fiber EMG analyses) and functional (different tests of muscle strength, fatigability, dexterity, and balance) testing on 4 separate occasions. Healthy controls will undergo electrophysiological testing at baseline only.
To assess whether patients with CMT have deficits in NMJ transmission, results from repetitive nerve stimulation and single fiber EMG analyses in CMT patients will be compared to those obtained in healthy controls at baseline. To inform future clinical trials, results relability and tolerability estimates obtained from sequential electrophysiological and functional tests will be calculated
- Conditions
- Charcot-Marie-Tooth Disease
- Keywords
- Neuromuscular Junction Transmission, Repetitive Nerve Stimulation, Neuromuscular Disease, Single Fiber EMG
- Medical subject headings
- Charcot-Marie-Tooth Disease, Neuromuscular Diseases
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| CMT Patients | Individuals with Charcot-Marie-Tooth Disease Types 1 and 2. | |
| Healthy Controls | Healthy age-matched volunteers |
What is being measured
The primary outcome is the main question the study is designed to answer.
Repetitive Nerve Stimulation - difference between CMT patients and healthy controls
Percentage decrement of CMAP for the trapezius
Measured: Baseline
Repetitive Nerve Stimulation - difference between CMT patients and healthy controls
Percentage decrement of CMAP for abductor pollicis brevis
Measured: Baseline
Single Fiber Electro Myography (sfEMG) - difference between CMT patients and healthy controls
Percentage blocking
Measured: Baseline
Single Fiber Electro Myography (sfEMG) - difference between CMT patients and healthy controls
Jitter
Measured: Baseline
Secondary outcomes (12)
Isometric Dynamometry - test reliability in patients with CMT
This test will be used to evaluate maximum isometric strength
Measured: The test is performed at baseline and day 14, 28 and 42.
Manual Muscle Testing - test reliability in patients with CMT
This test is a physical examination of muscle strength. 15 muscle groups/motions will be tested. 13 of these are tested bilaterally. A total score between (0-280) is calculated
Measured: The test is performed at baseline and day 14, 28 and 42.
9 Hole Peg Test - test reliability in patients with CMT
This is a test of finger dexterity
Measured: The test is performed at baseline and day 14, 28 and 42.
6-Spot Step Test - test reliability in patients with CMT
This test is a quantitative measure of lower extremity function
Measured: The test is performed at baseline and day 14, 28 and 42.
10-Meter Walk/run Test - test reliability in patients with CMT
This test measures how fast the participant can walk/run 10 meters.
Measured: The test is performed at baseline and day 14, 28 and 42.
Timed Up and Go - test reliability in patients with CMT
This test measures how fast the participant can stand from a chair, walk 3 meters, turn around, return, and sit in the chair at a comfortable and safe pace
Measured: The test is performed at baseline and day 14, 28 and 42.
Berg Balance Scale - test reliability in patients with CMT
The test measures balance during different functional tasks. A total score is calculated as the sum of the individual scores for each item, with maximum value 56, with a lower score meaning worse balance
Measured: The test is performed at baseline and day 14, 28 and 42.
6 Minute Walk Test - test reliability in patients with CMT
This test measures how far a person can walk in six minutes
Measured: The test is performed at baseline and day 14, 28 and 42.
Single Fiber Electro Myography (sfEMG) - test reliability in patients with CMT
Percantage blocking
Measured: The test is performed at baseline and day 14, 28 and 42.
Single Fiber Electro Myography (sfEMG) - test reliability in patients with CMT
Jitter
Measured: The test is performed at baseline and day 14, 28 and 42.
Repetitive Nerve Stimulation - test reliability in patients with CMT
Percentage decrement of CMAP for Trapezius
Measured: The test is performed at baseline and day 14, 28 and 42.
Repetitive Nerve Stimulation - test reliability in patients with CMT
Percentage decrement of CMAP for abductor pollicis brevis
Measured: The test is performed at baseline and day 14, 28 and 42.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted28 Jul 2021
- Study start7 Apr 2021
- Primary completion3 Mar 2022
- Study completion3 Mar 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Charcot-Marie-Tooth DiseaseStudies of the same condition, open and under way.
- 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
- Observational
- Observational model
- Case-control
- Time perspective
- Prospective
- Enrolment
- 30 participants (actual)
Sponsor and investigators
- Lead sponsor
- NMD Pharma A/S
- Sponsor type
- Industry (pharma, biotech, devices)
- Collaborators
- Aarhus University Hospital, Ohio State University
- Responsible party
- Sponsor
- Investigators
- Henning Andersen, MD, PhD, Principal investigator, Aarhus University HospitalWilliam D Arnold, MD, Principal investigator, Ohio State University
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04980807
- Sponsor's protocol ID
- CMT Observational
- Acronym
- ESTABLISH
- Status last verified
- Jul 2021
- First submitted
- 7 Jul 2021
- Last updated
- 7 Mar 2022
- Results posted
- No
- Data monitoring committee
- No
- 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 7 Mar 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- An Open Observational Study of Clinical and Electrophysiological Outcomes in Male and Female Patients With CMT Type 1 & 2, and Aged-matched Healthy Controls
- ClinicalTrials.gov ID
- NCT04980807
- Acronym / sponsor ID
- ESTABLISH / CMT Observational
- Conditions
- Charcot-Marie-Tooth Disease
- Keywords
- Neuromuscular Junction Transmission, Repetitive Nerve Stimulation, Neuromuscular Disease, Single Fiber EMG
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 30 participants (actual)
- Lead sponsor
- NMD Pharma A/SIndustry (pharma, biotech, devices)
- Collaborators
- Aarhus University Hospital, Ohio State University
- Study start
- 7 Apr 2021 (actual)
- Primary completion
- 3 Mar 2022 (actual)
- Study completion
- 3 Mar 2022 (actual)
- First posted
- 28 Jul 2021 (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 primary aim of this study is to discover whether patients with CMT type 1 and 2 have neuromuscular junction transmission deficits.
The secondary aim is to collect information of different clinical and electrophysiological test procedures to perform possible future clinical trials in CMT patients.
Detailed description
The study is a prospective observational pilot study involving two investigational sites:
- Department of Neurology, Arhus University Hospital
- Department of Neurology, Ohio State University
A total of 20 patients with Charcot-Marie-Tooth (CMT) disease and 10 healthy age-matched controls will be included with each site including 10 CMT patients and 5 Healthy Controls. CMT patients will undergo electrophysiological (repetitive nerve stimulation and single fiber EMG analyses) and functional (different tests of muscle strength, fatigability, dexterity, and balance) testing on 4 separate occasions. Healthy controls will undergo electrophysiological testing at baseline only.
To assess whether patients with CMT have deficits in NMJ transmission, results from repetitive nerve stimulation and single fiber EMG analyses in CMT patients will be compared to those obtained in healthy controls at baseline. To inform future clinical trials, results relability and tolerability estimates obtained from sequential electrophysiological and functional tests will be calculated
Study design
- Observational model
- Case-control
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| CMT Patients | – | –Individuals with Charcot-Marie-Tooth Disease Types 1 and 2. |
| Healthy Controls | – | –Healthy age-matched volunteers |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
- Study population
- Eligible CMT patients will be invited to participate at the respective study sites. Age matched healthy volunteers will be recruited through advertisement at the respective study sites
Key inclusion criteria (10 listed)
- Age ≥ 18 years
- Diagnosis of CMT confirmed by:
- Clinical presentation and electro diagnostics or genetics
- Physical Features (all must apply): 1) Ambulation for at least 10 meters, without a brace 2) Left and right ankle plantar flexion Medical Research Council (MRC) grade 2 to 5, inclusive 3) Left and right ankle dorsiflexion MRC manual muscle testing (MMT) grade 2 to 4+, inclusive.
- Ability to adhere to the study visit schedule/procedures, and to understand and comply with protocol requirements
Key exclusion criteria (10 listed)
- Severe deformity or ankle contracture that would sufficiently limit passive range of motion to affect assessment of dorsiflexion strength
- Ulceration that would interfere with functional ability
- Recent major surgery
- Significant change in physical activity or exercise (e.g., significant increase or decrease in intensity or frequency) within 8 weeks before Study Day 1 or inability to maintain the baseline level of physical activity throughout the study
- Any disability or condition that would prevent completion of the study tasks
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Repetitive Nerve Stimulation - difference between CMT patients and healthy controls
Time frame: Baseline
Percentage decrement of CMAP for the trapezius
Repetitive Nerve Stimulation - difference between CMT patients and healthy controls
Time frame: Baseline
Percentage decrement of CMAP for abductor pollicis brevis
Single Fiber Electro Myography (sfEMG) - difference between CMT patients and healthy controls
Time frame: Baseline
Percentage blocking
Single Fiber Electro Myography (sfEMG) - difference between CMT patients and healthy controls
Time frame: Baseline
Jitter
12 secondary outcomes
Isometric Dynamometry - test reliability in patients with CMT
Time frame: The test is performed at baseline and day 14, 28 and 42.
Manual Muscle Testing - test reliability in patients with CMT
Time frame: The test is performed at baseline and day 14, 28 and 42.
9 Hole Peg Test - test reliability in patients with CMT
Time frame: The test is performed at baseline and day 14, 28 and 42.
6-Spot Step Test - test reliability in patients with CMT
Time frame: The test is performed at baseline and day 14, 28 and 42.
10-Meter Walk/run Test - test reliability in patients with CMT
Time frame: The test is performed at baseline and day 14, 28 and 42.
Timed Up and Go - test reliability in patients with CMT
Time frame: The test is performed at baseline and day 14, 28 and 42.
Berg Balance Scale - test reliability in patients with CMT
Time frame: The test is performed at baseline and day 14, 28 and 42.
6 Minute Walk Test - test reliability in patients with CMT
Time frame: The test is performed at baseline and day 14, 28 and 42.
Single Fiber Electro Myography (sfEMG) - test reliability in patients with CMT
Time frame: The test is performed at baseline and day 14, 28 and 42.
Single Fiber Electro Myography (sfEMG) - test reliability in patients with CMT
Time frame: The test is performed at baseline and day 14, 28 and 42.
Repetitive Nerve Stimulation - test reliability in patients with CMT
Time frame: The test is performed at baseline and day 14, 28 and 42.
Repetitive Nerve Stimulation - test reliability in patients with CMT
Time frame: The test is performed at baseline and day 14, 28 and 42.
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 7 Mar 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.
Henning Andersen, MD, PhD principal investigator
Aarhus University Hospital
William D Arnold, MD principal investigator
Ohio State University
2 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Charcot-Marie-Tooth Disease, run by NMD Pharma A/S at 2 sites in 2 countries.
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 10 inclusion and 10 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 7 Mar 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in United States, Denmark. 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?
Repetitive Nerve Stimulation - difference between CMT patients and healthy controls (time frame: Baseline). The study lists 4 primary outcomes in all. 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 7 Mar 2022.