Natural History Study for Patients With Nemaline Myopathy in the UK

Inclusion Criteria:

• Patient and/or parent or legal guardian must be willing and have the ability toprovide written informed consent for participation in the study.

• Male or Female

• Any age

• Diagnosis of NM which in most cases includes having a disease-causing variant/s inone of the known NM causative genes and a consistent clinical phenotype.

Exclusion Criteria:

• Any confirmed chronic or acute condition or disease affecting any system(s), whichcould interfere with the results of the study and/or the compliance with the studyprocedures. This will be subject to the clinical judgement of the Chief Investigator (CI) and/or the Principal Investigator (PI).

• Clinically significant medical finding on the physical examination other than NMthat, in the judgment of the Investigator, will make the patient unsuitable forparticipation in, and/or completion of the study procedures.

• Participants of ongoing (interventional) clinical trials that assess the efficacy ofpotential treatments will be excluded as assessments need to be done on the basisthat represent the natural progression of NM.

• Safety concerns. This includes anything that might put the participant and/or theirParent(s) or Guardian(s) at risk through participating in the study potentiallyincluding but not limited to: Safeguarding concerns, Social Issues and Healthissues.