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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Page 1 of 1 (4 locations)

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

Natural History Study for Patients With Nemaline Myopathy in the UK | DecenTrialz