Nemaline MyopathyNatHis-NM-MDUKNCT06670378
Natural History Study for Patients With Nemaline Myopathy in the UK
An observational study of Nemaline Myopathy, run by University of Oxford at 4 sites in United Kingdom.
Trial 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. Read more about this study
- Who is it for?
- Any age
- Conditions the study is for
- Nemaline Myopathy
- How many people
- 45 participants
- Where
- 4 sitesUnited Kingdom
- Study dates
- 7 Oct 2024to Aug 2029
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages Any age
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
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.
Who may be able to join
- 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.
Who cannot join
- 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.
Trial locations and contacts
4 sites in 1 country.
United Kingdom4 sites
Department of Paediatric Neurology - Neuromuscular Service, Evelina Children's Hospital
London
Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital
London
John Walton Muscular Dystrophy Research Centre, Newcastle University
Newcastle
MDUK Oxford Neuromuscular Centre, University of Oxford
Oxford
About this study
Official title: 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.
Read the 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.
- Conditions
- Nemaline Myopathy
- Medical subject headings
- Myopathies, Nemaline
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
| Study group | Role | What they receive |
|---|---|---|
| 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 being measured
The primary outcome is the main question the study is designed to answer.
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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Measured: 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
Health Utilities Index 3 (HUI3)
Measured: Baseline, 12months, 24 months, 36 months.
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted1 Nov 2024
- Study start7 Oct 2024
- Primary completionAug 2029 (estimated)
- Study completionAug 2029 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Nemaline MyopathyStudies of the same condition, open and under way.
- More trials run by University of OxfordThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 45 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University of Oxford
- Sponsor type
- University, hospital or other
- Collaborators
- Muscular Dystrophy UK
- Responsible party
- Sponsor
- Investigators
- Prof Laurent Servais, Study chair, MDUK Oxford Neuromuscular Centre, University of Oxford
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06670378
- Sponsor's protocol ID
- NatHis-NM-MDUK
- Other IDs
- 24/EE/0114
- Acronym
- NatHis-NM-MDUK
- Status last verified
- Apr 2026
- First submitted
- 9 Sep 2024
- Last updated
- 13 Apr 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Study at a glance
From the registry record, last updated by the sponsor on 13 Apr 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- A Multicentre, Prospective, Longitudinal and Observational Natural History Study for Patients With Nemaline Myopathy in the United Kingdom: NatHis-NM-MDUK
- ClinicalTrials.gov ID
- NCT06670378
- Acronym / sponsor ID
- NatHis-NM-MDUK / NatHis-NM-MDUK
- Conditions
- Nemaline Myopathy
- Study type
- Observational
- Recruitment status
- Active, not recruiting
- Enrolment
- 45 participants (estimated)
- Lead sponsor
- University of OxfordUniversity, hospital or other
- Collaborators
- Muscular Dystrophy UK
- Study start
- 7 Oct 2024 (actual)
- Primary completion
- Aug 2029 (estimated)
- Study completion
- Aug 2029 (estimated)
- First posted
- 1 Nov 2024 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| 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. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- 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.
Key inclusion criteria (4 listed)
- 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.
Key exclusion criteria (4 listed)
- 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.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
To observe the natural clinical progression of NM in patients not receiving any disease-modifying intervention
Time frame: Baseline, 6 months (age <18 years only), 12months, 18 months (age <18 years only) 24 months, 36 months.
Collection of retrospective and prospective clinical data at baseline visit
To observe the natural clinical progression of NM in patients not receiving any disease-modifying intervention
Time frame: Baseline, 6 months (age <18 years only), 12months, 18 months (age <18 years only) 24 months, 36 months.
Standard Medical and Neurological examination
To observe the natural clinical progression of NM in patients not receiving any disease-modifying intervention
Time frame: Baseline, 6 months (age <18 years only), 12months, 18 months (age <18 years only) 24 months, 36 months.
Questionnaires focusing on quality of life: All ages = PROMIS - 29 profile v2.1
To observe the natural clinical progression of NM in patients not receiving any disease-modifying intervention
Time frame: Baseline, 6 months (age <18 years only), 12months, 18 months (age <18 years only) 24 months, 36 months.
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
To observe the natural clinical progression of NM in patients not receiving any disease-modifying intervention
Time frame: Baseline, 6 months (age <18 years only), 12months, 18 months (age <18 years only) 24 months, 36 months.
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
1 secondary outcome
To quantify the health economic burden of nemaline myopathy
Time frame: Baseline, 12months, 24 months, 36 months.
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 13 Apr 2026.
- Individual participant dataSharing planned: Undecided
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Prof Laurent Servais study chair
MDUK Oxford Neuromuscular Centre, University of Oxford
4 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Nemaline Myopathy, run by University of Oxford at 4 sites in United Kingdom.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 4 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: under way, not looking for participants, as of the sponsor's last update on 13 Apr 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 4 sites in United Kingdom. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
To observe the natural clinical progression of NM in patients not receiving any disease-modifying intervention (time frame: Baseline, 6 months (age <18 years only), 12months, 18 months (age <18 years only) 24 months, 36 months.). The study lists 5 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 13 Apr 2026.