NCT06136416

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

• Status: Completed
• Phase: N/A
• Study type: Interventional
• Enrollment: 10 (actual)
• Sponsor: Centre Hospitalier Universitaire de Nice · Academic / Other
• Sex: All
• Age: 18 Years
• Healthy volunteers: Not accepted

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

Type	Name	Description
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

Timeline

• Start date: 2024-03-21
• Primary completion: 2024-05-23
• Completion: 2024-05-23
• First posted: 2023-11-18
• Last updated: 2024-09-27

Locations

1 site across 1 country: France