Status:
ACTIVE_NOT_RECRUITING
Natural History Study for Patients With Nemaline Myopathy in the UK
Lead Sponsor:
University of Oxford
Collaborating Sponsors:
Muscular Dystrophy UK
Conditions:
Nemaline Myopathy
Eligibility:
All Genders
Brief Summary
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 develo...
Detailed Description
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 beco...
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.
Key Trial Info
Start Date :
October 7 2024
Trial Type :
OBSERVATIONAL
Allocation :
ESTIMATED
End Date :
August 1 2029
Estimated Enrollment :
45 Patients enrolled
Trial Details
Trial ID
NCT06670378
Start Date
October 7 2024
End Date
August 1 2029
Last Update
April 13 2026
Active Locations (4)
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1
Department of Paediatric Neurology - Neuromuscular Service, Evelina Children's Hospital
London, United Kingdom
2
Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital
London, United Kingdom
3
John Walton Muscular Dystrophy Research Centre, Newcastle University
Newcastle, United Kingdom
4
MDUK Oxford Neuromuscular Centre, University of Oxford
Oxford, United Kingdom