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

NCT06136416 | Completed

• 1 other identifier: 23-PP-15
• Study Type: interventional
• Target: 10
• Locations: 1 country
• Sites: 1

Brief 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. 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.

Conditions

Non-Dystrophic Myotonia

Outcome Measures

Primary Outcomes (1)

• 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 Outcomes (5)

• Evaluate the formulation of the MNDActiveLive questionnaire

  The day of inclusion

• Identify questions to be excluded

  The day of inclusion

• Identify questions to rephrase

  The day of inclusion

• Assess reproducible issues

  The day of inclusion and 7 days after

• Select questions to keep

  The day of inclusion and 7 days after

Study Arms (1)

Patients with Non-dystrophic myotonias

EXPERIMENTAL

Other: Questionnaire for Non-dystrophic myotonias

Interventions

Questionnaire for Non-dystrophic myotonias OTHER

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

Patients with Non-dystrophic myotonias

Eligibility Criteria

• Age: 18 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64), Older Adult (65+)

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Centre Hospitalier Universitaire de Nice: lead

Study Sites (1)

Nice University Hospital

Nice, Alpes Maritimes, 06000, France

Location

Related Publications (1)

• 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.

  PMID: 41627073 DERIVED

MeSH Terms

Interventions

Surveys and Questionnaires

Intervention Hierarchy (Ancestors)

Data Collection; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Study Design

• Study Type: interventional
• Phase: not applicable
• Allocation: NA
• Masking: NONE
• Purpose: OTHER
• Intervention Model: SINGLE GROUP
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 13, 2023
• First Posted: November 18, 2023
• Study Start: March 21, 2024
• Primary Completion: May 23, 2024
• Study Completion: May 23, 2024
• Last Updated: September 27, 2024

Record last verified: 2024-09

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)