Understanding the natural progression of 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

This study is trying to understand how nemaline myopathy affects people in the UK by looking at their movement, breathing, swallowing, and overall quality of life to help shape future treatments.

Quick facts

• Study type: Observational
• Enrollment: 45 (estimated)
• Sex: All
• Sponsor: University of Oxford (Academic / other)
• Locations: 4 sites (London and 3 other locations)
• Trial ID: NCT06670378 on ClinicalTrials.gov

What this trial studies

This observational study aims to gather comprehensive data on the natural history of nemaline myopathy (NM) to support the development of future clinical trials. It will assess various aspects of the disease, including motor function, breathing, swallowing, quality of life, and fatigue through medical data, questionnaires, and wearable sensors. Additionally, blood samples will be collected for genetic and proteomic analysis, and respiratory patterns will be evaluated in pediatric participants. The goal is to identify useful outcome measures and biomarkers for potential therapies in development.

Who should consider this trial

Good fit: Ideal candidates include individuals of any age diagnosed with nemaline myopathy who can provide informed consent.

Not a fit: Patients with significant comorbid conditions that could interfere with study results may not benefit from participation.

Why it matters

Potential benefit: If successful, this study could provide critical insights that facilitate the development of effective treatments for nemaline myopathy.

How similar studies have performed: While this approach is focused on understanding the natural history of NM, similar studies in other neuromuscular disorders have shown success in informing treatment development.

Eligibility criteria

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.

Where this trial is running

London and 3 other locations

• Department of Paediatric Neurology - Neuromuscular Service, Evelina Children's Hospital — London, United Kingdom (Not_yet_recruiting)
• Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital — London, United Kingdom (Not_yet_recruiting)
• John Walton Muscular Dystrophy Research Centre, Newcastle University — Newcastle, United Kingdom (Recruiting)
• MDUK Oxford Neuromuscular Centre, University of Oxford — Oxford, United Kingdom (Recruiting)

Study contacts

• Study coordinator: Prof Laurent Servais

Conditions Nemaline Myopathy