Clinical Research Directory

Inclusion Criteria: * 0-18 years of age at recruitment * Confirmation of Nemaline Myopathy (pathogenic or likely pathogenic mutations in ACTA1 (AD) or NEB (AR) * Patient and/or parent or legal guardian must be willing and able to provide informed consent Exclusion Criteria: * Clinically significant medical finding on the physical examination, other than NM, that the Investigator deems unsuitable for participation in and/or completion of the study procedures * Any confirmed chronic or acute condition or disease affecting any system(s), which could interfere with the results of the study and/or the compliance with the study procedures. This will be subject to the clinical judgement of the Principal Investigator (PI) * Participants of ongoing (interventional) clinical trials that assess the efficacy of potential treatments will be excluded * Safety concerns