Natural History Study for Patients With Nemaline Myopathy in the UK (NatHis-NM-MDUK)

A Multicentre, Prospective, Longitudinal and Observational Natural History Study for Patients With Nemaline Myopathy in the United Kingdom: NatHis-NM-MDUK

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.

Study Overview

• Status: Active, not recruiting
• Conditions: Nemaline Myopathy

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 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.

• Study Type: Observational
• Enrollment (Estimated): 45

Contacts and Locations

Study Locations

• United Kingdom
  • London, United Kingdom
    • Department of Paediatric Neurology - Neuromuscular Service, Evelina Children's Hospital
  • London, United Kingdom
    • Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital
  • Newcastle, United Kingdom
    • John Walton Muscular Dystrophy Research Centre, Newcastle University
  • Oxford, United Kingdom
    • MDUK Oxford Neuromuscular Centre, University of Oxford

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: Child; Adult; Older Adult
• Accepts Healthy Volunteers: No

• 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.

Description

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.

Study Plan

How is the study designed?

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort

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.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
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 Outcome Measures

Outcome Measure	Measure Description	Time Frame
To quantify the health economic burden of nemaline myopathy	Health Utilities Index 3 (HUI3)	Baseline, 12months, 24 months, 36 months.

Collaborators and Investigators

• Sponsor: University of Oxford
• Collaborators: Muscular Dystrophy UK
• Investigators: Study Chair: Prof Laurent Servais, MDUK Oxford Neuromuscular Centre, University of Oxford

Study record dates

Study Major Dates

• Study Start (Actual): October 7, 2024
• Primary Completion (Estimated): August 1, 2029
• Study Completion (Estimated): August 1, 2029

Study Registration Dates

• First Submitted: September 9, 2024
• First Submitted That Met QC Criteria: October 30, 2024
• First Posted (Actual): November 1, 2024

Study Record Updates

• Last Update Posted (Actual): April 13, 2026
• Last Update Submitted That Met QC Criteria: April 9, 2026
• Last Verified: April 1, 2026

More Information

Terms related to this study

• Additional Relevant MeSH Terms: Musculoskeletal Diseases; Nervous System Diseases; Muscular Diseases; Neuromuscular Diseases; Myopathies, Structural, Congenital; Myopathies, Nemaline
• Other Study ID Numbers: NatHis-NM-MDUK; 24/EE/0114 (Other Identifier: REC)

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: UNDECIDED

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No