Pilot Study for the Development of an Activity and Quality of Life Questionnaire for the Follow-up of Patients With Non-dystrophic Myotonia

Study Overview
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Brief Summary
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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.

Official Title
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Pilot Study for the Development of an Activity and Quality of Life Questionnaire for the Follow-up of Patients With Non-dystrophic Myotonia

Conditions
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Non-Dystrophic Myotonia

Intervention / Treatment
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* Other: Questionnaire for Non-dystrophic myotonias


Participation Criteria
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Eligibility Criteria
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Inclusion criteria: 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 Exclusion criteria: 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

Ages Eligible for Study
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Minimum Age: 18 Years

Sexes Eligible for Study
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All

Accepts Healthy Volunteers
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No

Study Plan
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How is the study designed?
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Design Details

Primary Purpose: Other
Intervention Model: Single Group Assignment
Masking: None (Open Label)


Arms and Interventions

| Participant Group/Arm | Intervention/Treatment |
| --- | --- |
| Experimental: Patients with Non-dystrophic myotonias<br> | Other: Questionnaire for Non-dystrophic myotonias<br>* 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<br>|

What is the study measuring?
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Primary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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%. | The day of inclusion | 

Secondary Outcome Measures

| Outcome Measure | Measure Description | Time Frame |
| --- | --- | --- |
| 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%. | 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%. | 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% | 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 | 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 | The day of inclusion and 7 days after |