UK study tracks rare muscle disease to pave way for future treatments
NCT ID NCT06670378
First seen Jun 27, 2026 · Last updated Jun 27, 2026
Summary
This study follows 45 people with nemaline myopathy in the UK to learn how the disease naturally progresses. Researchers collect medical exams, quality-of-life surveys, and physical assessments over time. The goal is to identify the best ways to measure the disease in future clinical trials. No new treatments are tested here.
This is an AI summary of the original study and may miss details. Read our disclaimer.
Study facts
What this study's own registry entry says, in plain language.
- Participants
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About 45 people
The number the study aims to enrol. It can still change while the study runs.
- Started
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Oct 2024
- Expected to finish
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Aug 2029
An estimate. End dates often move.
- Lead sponsor
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Other sponsor
The registry's catch-all category, for sponsors it does not file as a company, a government agency, or a research network.
Who can take part
This study's own entry requirements. Only the study team can say for certain whether you qualify.
Who is studied
* 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.
- Ages
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Children (under 18), adults (18 to 64) and older adults (65 and over)
- Sex
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Anyone
- Healthy volunteers
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Not accepted
This study is not open to healthy volunteers. The entry requirements below say who it is open to.
Show the full entry requirements Hide the full entry requirements
Copied word for word from the study's registry entry, so the wording is the study team's rather than ours.
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.
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Conditions
The condition(s) this trial relates to.
As listed by the trial registrant
The condition terms exactly as the trial's registrant entered them.
Contacts and locations
Locations
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Department of Paediatric Neurology - Neuromuscular Service, Evelina Children's Hospital
London, United Kingdom
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Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital
London, United Kingdom
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John Walton Muscular Dystrophy Research Centre, Newcastle University
Newcastle, United Kingdom
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MDUK Oxford Neuromuscular Centre, University of Oxford
Oxford, United Kingdom
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Other studies related to the condition(s) this trial covers.