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Natural History Study for Patients With Nemaline Myopathy in the UK

NCT ID: NCT06670378

Last Updated: 2024-12-05

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

45 participants

Study Classification

OBSERVATIONAL

Study Start Date

2024-10-07

Study Completion Date

2029-08-31

Brief Summary

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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.

Detailed Description

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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.

Conditions

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Nemaline Myopathy

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Nemaline myopathy patients

Patients of any age and ability with a genetic and clinical diagnosis of Nemaline myopathy with no significant comorbidities. All patients will be evaluated for the natural clinical progression of the disease using 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 some paediatric participants.

No interventions assigned to this group

Eligibility Criteria

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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.
Eligible Sex

ALL

Accepts Healthy Volunteers

No

Sponsors

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Muscular Dystrophy UK

UNKNOWN

Sponsor Role collaborator

University of Oxford

OTHER

Sponsor Role lead

Responsible Party

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Responsibility Role SPONSOR

Principal Investigators

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Prof Laurent Servais

Role: STUDY_CHAIR

MDUK Oxford Neuromuscular Centre, University of Oxford

Locations

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Department of Paediatric Neurology - Neuromuscular Service, Evelina Children's Hospital

London, , United Kingdom

Site Status NOT_YET_RECRUITING

Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital

London, , United Kingdom

Site Status NOT_YET_RECRUITING

John Walton Muscular Dystrophy Research Centre, Newcastle University

Newcastle, , United Kingdom

Site Status RECRUITING

MDUK Oxford Neuromuscular Centre, University of Oxford

Oxford, , United Kingdom

Site Status RECRUITING

Countries

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United Kingdom

Central Contacts

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Prof Laurent Servais

Role: CONTACT

Phone: +44 1865618799

Email: [email protected]

Facility Contacts

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Prof Heinz Jungbluth

Role: primary

Dr Anna Sarkozy

Role: primary

Dr Meredith James

Role: primary

Dr Gemma Fisher

Role: primary

Other Identifiers

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24/EE/0114

Identifier Type: OTHER

Identifier Source: secondary_id

NatHis-NM-MDUK

Identifier Type: -

Identifier Source: org_study_id