The Natural History and Muscle Fatigability of Patients With Congenital Myopathies.

Launched by RADBOUD UNIVERSITY MEDICAL CENTER · Nov 27, 2023

Keywords

ClinConnect Summary

This clinical trial is focused on understanding the natural history and muscle fatigue in patients with three rare types of congenital myopathies: Central Core Disease, Multi-Minicore Disease, and Nemaline Myopathy, as well as Centronuclear Myopathy. These conditions can make muscles weaker and cause tiredness during physical activity, but there is currently no cure. Over the next 24 months, researchers aim to learn more about how these conditions progress over time and how muscle fatigue affects daily life for patients.

To participate, individuals must be at least 2 years old and speak Dutch, with a confirmed genetic diagnosis of one of the myopathies mentioned. Those aged 8 to 60 will also be part of a specific study on muscle fatigability. Participants will need to travel to Nijmegen and Utrecht for the study visits and may be asked to stop taking certain medications a day before their appointments. This study is a chance for patients and their families to contribute to important research that could help improve understanding and treatment of these conditions in the future.

Gender

ALL

Eligibility criteria

• Inclusion Criteria for the natural history:
• • 2 years or older
• • Willing and able to complete the measurement protocol
• • Willing and able to travel to Nijmegen and Utrecht
• • Dutch-speaking
• • Genetically-confirmed congenital myopathy (CCD/MmD, NEM, and CNM)
• Inclusion Criteria for the fatigability study:
• • 8-60 years old
• • Willing and able to complete the measurement protocol
• • Willing and able to travel to Nijmegen and Utrecht
• • Dutch-speaking
• • Genetically-confirmed congenital myopathy (CCD/MmD, NEM, and CNM)
• • Willing to stop taking pyridostigmine and/or salbutamol 24 hours before the visit.
• Exclusion Criteria for both parts:
• • Other neuromuscular, psychiatric or neurological disorders.