Natural History Study for Patients With Nemaline Myopathy in the UK

A Multicentre, Prospective, Longitudinal and Observational Natural History Study for Patients With Nemaline Myopathy in the United Kingdom: NatHis-NM-MDUK

The goal of this study is to to learn more about what assessments would be useful to measure for NM and what normally happens during the lives of people with NM to support future clinical trial development.

Current treatments for people living with nemaline myopathy are supportive only. Several potential therapies are in development which may be available in the next 5-10 years. The barrier to these becoming available is that there is little data available on the natural progression (natural history) of nemaline myopathy. This means that it would be difficult to do a clinical trial of a treatment because it is not known which assessments would be useful to measure or what normally happens during the lives of people with NM.This study aims to better define the natural history and disease specific outcome measures and biomarkers.

This study will comprehensively evaluate the natural clinical progression of the disease using medical data and examination findings, scales and questionnaires for the assessment of motor function, breathing, swallow function and Quality of life and fatigue. In addition it will collect data on continuous movement and gait analysis using real world data and wearable sensors (Syde and Maiju), blood samples for future genetic and proteomic analysis and respiratory analysis using ventilatory and thoraco-abdominal pattern for paediatric participants.

Inclusion Criteria:

• Patient and/or parent or legal guardian must be willing and have the ability to provide 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 in one 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), 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 Chief Investigator (CI) and/or the Principal Investigator (PI).
• Clinically significant medical finding on the physical examination other than NM that, in the judgment of the Investigator, will make the patient unsuitable for participation in, and/or completion of the study procedures.
• Participants of ongoing (interventional) clinical trials that assess the efficacy of potential treatments will be excluded as assessments need to be done on the basis that represent the natural progression of NM.
• Safety concerns. This includes anything that might put the participant and/or their Parent(s) or Guardian(s) at risk through participating in the study potentially including but not limited to: Safeguarding concerns, Social Issues and Health issues.