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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

NCT06136416 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 10

Last updated 2024-09-27

No results posted yet for this study

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

Interventions

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

Sponsors & Collaborators

  • Centre Hospitalier Universitaire de Nice

    lead OTHER

Study Design

Allocation
NA
Purpose
OTHER
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2024-03-21
Primary Completion
2024-05-23
Completion
2024-05-23

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT06136416 on ClinicalTrials.gov