Natural History Study for Patients With Nemaline Myopathy in the UK

NCT06670378 | Active Not Recruiting

• 2 other identifiers: NatHis-NM-MDUK24/EE/0114
• Study Type: observational
• Target: 45
• Locations: 1 country
• Sites: 4

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 development.

Conditions

Nemaline Myopathy

Outcome Measures

Primary Outcomes (5)

• To observe the natural clinical progression of NM in patients not receiving any disease-modifying intervention

  Collection of retrospective and prospective clinical data at baseline visit

  Baseline, 6 months (age <18 years only), 12months, 18 months (age <18 years only) 24 months, 36 months.

• To observe the natural clinical progression of NM in patients not receiving any disease-modifying intervention

  Standard Medical and Neurological examination

  Baseline, 6 months (age <18 years only), 12months, 18 months (age <18 years only) 24 months, 36 months.

• To observe the natural clinical progression of NM in patients not receiving any disease-modifying intervention

  Questionnaires focusing on quality of life: All ages = PROMIS - 29 profile v2.1

  Baseline, 6 months (age <18 years only), 12months, 18 months (age <18 years only) 24 months, 36 months.

• To observe the natural clinical progression of NM in patients not receiving any disease-modifying intervention

  Physio assessment for motor outcome measures and assessment is depend on age: 0-1 years old (dependent on ability) CHOP-INTEND, HINE2, Peabody and MFM32 2-4 years (dependent on ability) MFM32, NSAD, Peabody 5 and over (dependent on ability) MFM32, NSAD, PUL, Myogrip, myopinch, 4SCT, 6MWY, 100mWRT

  Baseline, 6 months (age <18 years only), 12months, 18 months (age <18 years only) 24 months, 36 months.

• To observe the natural clinical progression of NM in patients not receiving any disease-modifying intervention

  Respiratory outcome measured dependent on age 0-1 years old (dependent on ability) Time on/off ventilator 2-4 years (dependent on ability) Time on/off ventilator, SNIP 5 and over (dependent on ability) Time on/off ventilator, Spirometry, MIP/MEP, SNIP

  Baseline, 6 months (age <18 years only), 12months, 18 months (age <18 years only) 24 months, 36 months.

Secondary Outcomes (1)

• To quantify the health economic burden of nemaline myopathy

  Baseline, 12months, 24 months, 36 months.

Study Arms (1)

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.

Eligibility Criteria

• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

* 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.

You may qualify if:

• 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.

You may not qualify if:

• 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.

Sponsors & Collaborators

• University of Oxford: lead
• Muscular Dystrophy UK: collaborator

Study Sites (4)

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

London, United Kingdom

Location

Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital

London, United Kingdom

Location

John Walton Muscular Dystrophy Research Centre, Newcastle University

Newcastle, United Kingdom

Location

MDUK Oxford Neuromuscular Centre, University of Oxford

Oxford, United Kingdom

Location

Biospecimen

Retention: SAMPLES WITH DNA

Up to 15mls of blood will be taken and no more than 0.8 ml/kg will be sampled. These samples will be processed to obtain acellular plasma and DNA which will be stored in the MRC Centre for Neuromuscular Diseases (MRC CNMD) Biobank London is based at the UCL Institute of Neurology and the UCL Great Ormond Street Institute of Child Health.

MeSH Terms

Conditions

Myopathies, Nemaline

Condition Hierarchy (Ancestors)

Myopathies, Structural, Congenital; Muscular Diseases; Musculoskeletal Diseases; Neuromuscular Diseases; Nervous System Diseases

Study Officials

• Prof Laurent Servais

  MDUK Oxford Neuromuscular Centre, University of Oxford

  STUDY CHAIR

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 9, 2024
• First Posted: November 1, 2024
• Study Start: October 7, 2024
• Primary Completion (Estimated): August 1, 2029
• Study Completion (Estimated): August 1, 2029
• Last Updated: April 13, 2026

Record last verified: 2026-04

Locations

GB (4)