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

Radboud University Medical Center

Status

Enrolling

Conditions

Nemaline Myopathy

Central Core Disease

Centronuclear Myopathy

Multi-Minicore Disease

Treatments

Other: Natural history and non therapeutical therapy

Study type

Observational

Funder types

Other

Identifiers

NCT06157268

W.OR22-10 (Other Grant/Funding Number)

NL83069.000.23

Details and patient eligibility

About

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.

Full description

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.

Enrollment

100 estimated patients

Sex

All

Ages

2+ years old

Volunteers

No Healthy Volunteers

Inclusion and exclusion 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.