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

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 Overview

• Status: Not yet recruiting
• Conditions: Non-Dystrophic Myotonia
• Intervention / Treatment: Other: Questionnaire for Non-dystrophic myotonias

• Study Type: Interventional
• Enrollment (Estimated): 10
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Sabrina SACCONI; Phone Number: +33 0492035757; Email: sacconi.s@chu-nice.fr

Study Locations

• France
  • Alpes Maritimes
    • Nice, Alpes Maritimes, France, 06000
      • Nice University Hospital
      • Contact: Sabrina SACCONI; Phone Number: +33 0492035757; Email: sacconi.s@chu-nice.fr
      • Principal Investigator: Sabrina SACCONI

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Adult; Older Adult
• Accepts Healthy Volunteers: No

Description

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

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Other
• Allocation: N/A
• Interventional Model: Single Group Assignment
• Masking: None (Open Label)

Number of Arms

1

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Patients with Non-dystrophic myotonias	Other: Questionnaire for Non-dystrophic myotonias; 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

What is the study measuring?

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

Collaborators and Investigators

• Sponsor: Centre Hospitalier Universitaire de Nice

Study record dates

Study Major Dates

• Study Start (Estimated): March 1, 2024
• Primary Completion (Estimated): May 1, 2024
• Study Completion (Estimated): May 1, 2024

Study Registration Dates

• First Submitted: November 13, 2023
• First Submitted That Met QC Criteria: November 13, 2023
• First Posted (Actual): November 18, 2023

Study Record Updates

• Last Update Posted (Estimated): February 9, 2024
• Last Update Submitted That Met QC Criteria: February 8, 2024
• Last Verified: February 1, 2024

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Nervous System Diseases; Neurologic Manifestations; Neuromuscular Manifestations; Myotonia
• Other Study ID Numbers: 23-PP-15

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No