Non-Dystrophic MyotoniaMNDActivLifeNCT06136416
Pilot Study for the Development of an Activity and Quality of Life Questionnaire for the Follow-up of Patients With Non-dystrophic Myotonia
A study testing Questionnaire for Non-dystrophic myotonias in people with Non-Dystrophic Myotonia, run by Centre Hospitalier Universitaire de Nice at 1 site in France.
Trial summary
Non-dystrophic myotonias (MND) are rare neuromuscular diseases caused by mutations in the voltage-dependent channels of skeletal muscles, resulting in delayed muscle relaxation after voluntary contraction. They include various conditions such as congenital myotonia, congenital paramyotonia and sodium channel myotonia. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Non-Dystrophic Myotonia
- What is being tested?
- Questionnaire for Non-dystrophic myotonias
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 10 participants
- Where
- 1 siteFrance
- Study dates
- 21 Mar 2024to 23 May 2024
- 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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Who may be able to join
- Male or female, over 18 years of age;
- With genetically diagnosed non-dystrophic myotonia;
- Affiliated with a Social Security system;
- Able to read, understand and speak French
- Having expressed his non-opposition
Who cannot join
- Subject participating in an interventional study with experimental drug or in the exclusion period of an interventional study;
- Pregnant or lactating women for women of childbearing age;
- Patient protected by law under guardianship or curators, or who cannot participate in a clinical study under Article L. 1121-16 of the French Public Health Code
Trial locations and contacts
1 site in 1 country.
About this study
Non-dystrophic myotonias (MND) are rare neuromuscular diseases caused by mutations in the voltage-dependent channels of skeletal muscles, resulting in delayed muscle relaxation after voluntary contraction. They include various conditions such as congenital myotonia, congenital paramyotonia and sodium channel myotonia. The main characteristic is myotonia, muscle stiffness accompanied by pain, fatigue and weakness. Symptoms vary in intensity, and fluctuation complicates clinical assessment.
Until now, no validated scale to assess the severity of myotonia is the subject of a consensus among neurologists. It therefore seems necessary to establish a scale to simply and quickly assess the severity of myotonia to fill this need.
Read more
The areas of this future scale were identified by the study coordinator based on existing questionnaires and scales. These areas have been validated by a scientific committee composed of expert neurologists.
The main objective of the study is to validate the adequacy and formulation of the scale questions by involving 10 patients who will complete the questionnaire twice to assess its fidelity. At the end of the study, the committee will exclude inappropriate questions. The goal is to create a reliable scale to assess the severity of myotonia.
- Conditions
- Non-Dystrophic Myotonia
- Being tested
- Questionnaire for Non-dystrophic myotonias
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
Questionnaire for Non-dystrophic myotoniasOther
Patients will have to complete the questionnaire created specifically for their pathology, as well as an evaluation grid of the same questionnaire to assess its relevance and good understanding
| Study group | Role | What they receive |
|---|---|---|
| Patients with Non-dystrophic myotonias | Experimental | Not described Receives: Other: Questionnaire for Non-dystrophic myotonias |
What is being measured
The primary outcome is the main question the study is designed to answer.
Evaluate the relevance of the MNDActiveLive questionnaire
The relevance of the MNDActiveLive questionnaire will be measured using patient responses to the relevance and formulation assessment grid. Indeed, it is about evaluating the percentage of relevant questions (that is, relatively relevant, perfectly relevant and relevant). The question will be considered relevant if the percentage is higher than 80%.
Measured: The day of inclusion
Secondary outcomes (5)
Evaluate the formulation of the MNDActiveLive questionnaire
The formulation of the MNDActiveLife questionnaire will be evaluated using the percentage of well-formulated questions (i.e., satisfactorily formulated, well-formulated, perfectly formulated) and the percentage of poorly-formulated questions (i.e. poorly worded or unclear, slightly ambiguous or confusing). The question will be considered well formulated if the percentage is greater than 80%.
Measured: The day of inclusion
Identify questions to be excluded
Questions to be excluded will be identified using the percentage of questions poorly formulated and irrelevant (poorly formulated or unclear, slightly ambiguous or may be confusing/not at all relevant, not relevant). The question will be excluded if the percentage of poorly formulated and irrelevant questions is greater than 80%.
Measured: The day of inclusion
Identify questions to rephrase
Questions to be reformulated will be identified using the percentage of questions that are poorly formulated and relevant (i.e., poorly formulated or unclear, slightly ambiguous or that may be confusing/relatively relevant, perfectly relevant and relevant). The question will be reformulated if the percentage is greater than 80%
Measured: The day of inclusion
Assess reproducible issues
The reproducibility of each question will be assessed by the percentage of patients with change in response between the response provided at inclusion and that provided 7 days later
Measured: The day of inclusion and 7 days after
Select questions to keep
Questions to be retained will be identified using the percentage of questions that are reproducible, well formulated and relevant
Measured: The day of inclusion and 7 days after
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted18 Nov 2023
- Study start21 Mar 2024
- Primary completion23 May 2024
- Study completion23 May 2024
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Non-Dystrophic MyotoniaStudies 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Enrolment
- 10 participants (actual)
Sponsor and investigators
- Lead sponsor
- Centre Hospitalier Universitaire de Nice
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06136416
- Sponsor's protocol ID
- 23-PP-15
- Acronym
- MNDActivLife
- Status last verified
- Sep 2024
- First submitted
- 13 Nov 2023
- Last updated
- 27 Sep 2024
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Amara A, Cavalli M, Ezaru A, Puma A, Garcia J, Meiran S, Parrotta A, Vicart S, Pereon Y, Salort-Campana E, Moussy M, Nadaj-Pakleza A, Villar-Quiles RN, Sacconi S. Active-NDM: Development of a patient-reported outcome questionnaire to measure the impact of non-dystrophic myotonia on activity of daily living. J Neuromuscul Dis. 2026 Feb 2:22143602251412470. doi: 10.1177/22143602251412470. Online ahead of print.
PubMed 41627073
Study at a glance
From the registry record, last updated by the sponsor on 27 Sep 2024. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Pilot Study for the Development of an Activity and Quality of Life Questionnaire for the Follow-up of Patients With Non-dystrophic Myotonia
- ClinicalTrials.gov ID
- NCT06136416
- Acronym / sponsor ID
- MNDActivLife / 23-PP-15
- Conditions
- Non-Dystrophic Myotonia
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 10 participants (actual)
- Lead sponsor
- Centre Hospitalier Universitaire de NiceUniversity, hospital or other
- Study start
- 21 Mar 2024 (actual)
- Primary completion
- 23 May 2024 (actual)
- Study completion
- 23 May 2024 (actual)
- First posted
- 18 Nov 2023 (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.
Non-dystrophic myotonias (MND) are rare neuromuscular diseases caused by mutations in the voltage-dependent channels of skeletal muscles, resulting in delayed muscle relaxation after voluntary contraction. They include various conditions such as congenital myotonia, congenital paramyotonia and sodium channel myotonia. The main characteristic is myotonia, muscle stiffness accompanied by pain, fatigue and weakness. Symptoms vary in intensity, and fluctuation complicates clinical assessment.
Until now, no validated scale to assess the severity of myotonia is the subject of a consensus among neurologists. It therefore seems necessary to establish a scale to simply and quickly assess the severity of myotonia to fill this need.
The areas of this future scale were identified by the study coordinator based on existing questionnaires and scales. These areas have been validated by a scientific committee composed of expert neurologists.
The main objective of the study is to validate the adequacy and formulation of the scale questions by involving 10 patients who will complete the questionnaire twice to assess its fidelity. At the end of the study, the committee will exclude inappropriate questions. The goal is to create a reliable scale to assess the severity of myotonia.
Study design
- Primary purpose
- Other
- Allocation
- Not applicable
- Intervention model
- Single group
- Masking
- None (open label)
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with Non-dystrophic myotonias | Experimental | Other: Questionnaire for Non-dystrophic myotonias |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (5 listed)
- Male or female, over 18 years of age;
- With genetically diagnosed non-dystrophic myotonia;
- Affiliated with a Social Security system;
- Able to read, understand and speak French
- Having expressed his non-opposition
Key exclusion criteria (3 listed)
- Subject participating in an interventional study with experimental drug or in the exclusion period of an interventional study;
- Pregnant or lactating women for women of childbearing age;
- Patient protected by law under guardianship or curators, or who cannot participate in a clinical study under Article L. 1121-16 of the French Public Health Code
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 |
|---|---|---|
| Questionnaire for Non-dystrophic myotoniasPatients will have to complete the questionnaire created specifically for their pathology, as well as an evaluation grid of the same questionnaire to assess its relevance and good understanding | Other | Patients with Non-dystrophic myotonias |
Primary outcome
Evaluate the relevance of the MNDActiveLive questionnaire
Time frame: The day of inclusion
The relevance of the MNDActiveLive questionnaire will be measured using patient responses to the relevance and formulation assessment grid. Indeed, it is about evaluating the percentage of relevant questions (that is, relatively relevant, perfectly relevant and relevant). The question will be considered relevant if the percentage is higher than 80%.
5 secondary outcomes
Evaluate the formulation of the MNDActiveLive questionnaire
Time frame: The day of inclusion
Identify questions to be excluded
Time frame: The day of inclusion
Identify questions to rephrase
Time frame: The day of inclusion
Assess reproducible issues
Time frame: The day of inclusion and 7 days after
Select questions to keep
Time frame: The day of inclusion and 7 days after
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 27 Sep 2024.
- Derived from this study: PubMed 41627073Amara A, Cavalli M, Ezaru A, Puma A, Garcia J, Meiran S, Parrotta A, Vicart S, Pereon Y, Salort-Campana E, Moussy M, Nadaj-Pakleza A, Villar-Quiles RN, Sacconi S. Active-NDM: Development of a patient-reported outcome questionnaire to measure the impact of non-dystrophic myotonia on activity of daily living. J Neuromuscul Dis. 2026 Feb 2:22143602251412470. doi: 10.1177/22143602251412470. Online ahead of print.
- 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.
The record lists no contact. Use the official record to reach the sponsor.
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing Questionnaire for Non-dystrophic myotonias in people with Non-Dystrophic Myotonia, run by Centre Hospitalier Universitaire de Nice at 1 site in France.
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 5 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 27 Sep 2024. 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 France. 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?
Evaluate the relevance of the MNDActiveLive questionnaire (time frame: The day of inclusion). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT06136416, which also lists 1 linked publication.
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 27 Sep 2024.