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

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

100 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-03-28

Study Completion Date

2026-11-30

Brief Summary

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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.

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Detailed Description

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Rationale: Patients with CCD/MmD, NEM and CNM report symptoms of weakness in the arms and legs. Other symptoms include weakness of the respiratory, facial and swallowing muscles. No treatments are available for congenital myopathies (CM) to slow down or cure the disease. A few type I-II trials have taken place and more are expected. Therefore it is important to reach trial readiness. To create trial readiness, there is a need for natural history study to create a detailed report of the disease course and a selection of the most sensitive clinical and functional outcome measures and biomarkers. Besides muscle weakness, several patients report muscle fatigability. This has not been investigated systematically in CM. The lack of evidence calls for a cross-sectional study assessing muscle fatigability and neuromuscular transmission in CM.

Objectives: i) To assess the natural disease course of CCD/MmD, NEM and CNM during 24 months. ii) To select relevant and sensitive clinical and functional outcome measures and biomarkers. iii) To assess the severity of muscle fatigability in CCD/MmD, NEM and CNM.

Study design: Patients with a genetically confirmed CCD/MmD, NEM or CNM will be able to participate in this study. The study consist of 2 parts. Part 1: a prospective cohort study with 5 visits every 6 months, for a total of 2 years. 45 patients will be included for this part. Part 2: an observational study with 2 visits. For this part 75 patients will be included. There will be an overlap in patients for the two parts. So a total of approximately 100 patients will be included. A large set of tests will be performed to assess the full capabilities of the patient, e.g. muscle strength/endurance, muscle imaging (MRI/ultrasound), activities, walking ability, quality of life, muscle fatigability and the feeling of fatigue.

Conditions

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Central Core Disease Multi-Minicore Disease Nemaline Myopathy Centronuclear Myopathy

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Core myopathies

Patients with a genetically confirmed core myopathy

Natural history and non therapeutical therapy

Intervention Type OTHER

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.

Nemaline myopathy

Patients with a genetically confirmed nemaline myopathy

Natural history and non therapeutical therapy

Intervention Type OTHER

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.

Centronuclear myopathy

Patients with a genetically confirmed centronuclear myopathy

Natural history and non therapeutical therapy

Intervention Type OTHER

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.

Interventions

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Natural 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.

Intervention Type OTHER

Eligibility Criteria

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Inclusion Criteria

* 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)

* 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.