Nemaline Myopathy Clinical Research Network (NM-CTRN)

Nemaline Myopathy Clinical Research Network (NM-CTRN)

The goal of this study is to establish a research network to help define the natural disease history and clinical outcome measures for Nemaline Myopathy (NM).

The long-term aim of this study is to incorporate these outcome measures into clinical trials for NM therapies. Outcome measures to be assessed will be dependent on the participant's age and functional status. Follow-up visits will be conducted either every 3 or 6 months, dependent on age, for a total of 3 years.

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