RecruitingNCT06157268

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

Trial Readiness and Trial Fitness for Congenital Myopathies: a 2-year Prospective Natural History Study Including a Cross-sectional Study on Muscle Fatigability

Sponsor

Radboud University Medical Center

Enrollment

100 participants

Start Date

Mar 28, 2024

Study Type

OBSERVATIONAL

Conditions

Nemaline Myopathy Centronuclear Myopathy Central Core Disease Multi-Minicore Disease

Summary

Core myopathies (CCD/MmD), nemaline myopathies (NEM) and centronuclear myopathies (CNM) are three types of rare congenital myopathies. Not much is known about the natural history and no curative treatment is available for these groups. Also patients report fatigability as one of their symptoms. The goal of this observational study is to study the natural history during 24 months to achieve trial readiness and to study the muscle fatigability in CCD/MmD, NEM and CNM.

Eligibility

Min Age: 2 Years

Plain Language Summary

Simplified for easier understanding

This clinical trial is studying Natural history and non therapeutical therapy for people with central core disease, centronuclear myopathy, and other related conditions. The study is currently recruiting participants at 2 locations. People eligible for this study include aged 2 Years and older.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Interventions

OTHERNatural history and non therapeutical therapy

This study concerns a natural history study part and a muscle fatigability part. For the natural history study no interventions will be used. For the muscle fatigability part non therapeutical therapies will be used. This includes endurance tests, isokinetic dynamometry and repetitive nerve stimulation.