Nemaline MyopathyNCT06774703
Nemaline Myopathy Clinical Research Network (NM-CTRN)
An observational study of Nemaline Myopathy, run by Stanford University at 6 sites in 2 countries.
Trial summary
The goal of this study is to establish a research network to help define the natural disease history and clinical outcome measures for Nemaline Myopathy (NM). Read more about this study
- Who is it for?
- Ages 0 to 18 years
- Conditions the study is for
- Nemaline Myopathy
- How many people
- 50 participants
- Where
- 6 sitesin 2 countries
- Study dates
- Jan 2025to Dec 2029
- How long will I take part?
- 3 Years
- 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 0 to 18 years
- All sexes
- No healthy volunteers
- Child, Adult
Study population: Participants will be identified through several sources. The primary source will be through our NM-CRN MDA care center network. Participants will also be recruited through the CMDIR and the Beggs Laboratory. Information regarding the study will be disseminated to all MDA clinics through the MDA website and via email to clinic directors. In addition, the study will advertised to families through A Foundation Building Strength, which maintains a patient information website and newsletter.
Who may be able to join
- 0-18 years of age at recruitment
- Confirmation of Nemaline Myopathy (pathogenic or likely pathogenic mutations in ACTA1 (AD) or NEB (AR)
- Patient and/or parent or legal guardian must be willing and able to provide informed consent
Who cannot join
- Clinically significant medical finding on the physical examination, other than NM, that the Investigator deems unsuitable for participation in and/or completion of the study procedures
- 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 Principal Investigator (PI)
- Participants of ongoing (interventional) clinical trials that assess the efficacy of potential treatments will be excluded
- Safety concerns
Trial locations and contacts
6 sites in 2 countries. Contact the study team or a site near you to ask about taking part.
6 sites in 2 countries
United States5 sites
National Institute of Health
Bethesda, Maryland, 20892
Christopher Mendoza, christopher.mendoza2@nih.gov
Carsten Bonnemann, MD
Boston Children's Hospital
Boston, Massachusetts, 02115
Aleah Pagan, BA, 617-919-7498, aleah.pagan@childrens.harvard.edu
Alan Beggs, PhD
UT Southwestern Medical Centre/Children's Health Dallas
Dallas, Texas, 75207
Holly Lawrence, CCRC, 214-456-9561, holly.lawrence@utsouthwestern.edu
Kaitlin Batley, MD
St Jude Children's Research Hospital
Memphis, Tennessee, 38105
Jean Laboe, MSN, RN, 901-595-1693, jean.laboe@stjude.org
Richard Finkel, MD
Stanford University/Lucile Packard Children's Hospital
Palo Alto, California, 94304
Sarah Ismail, BSc, 650-460-4596, sismail@stanford.edu
Carolina Tesi-Rocha, MD
Canada1 site
The Hospital for Sick Children
Toronto, Ontario, M5G 1E8
Ana Stosic, MSc, 416-648-6831, ana.stosic@sickkids.ca
Jim Dowling, MD
About this study
The goal of this study is to establish a research network to help define the natural disease history and clinical outcome measures for Nemaline Myopathy (NM).
Read the detailed description
The long-term aim of this study is to incorporate these outcome measures into clinical trials for NM therapies. Outcome measures to be assessed will be dependent on the participant's age and functional status. Follow-up visits will be conducted either every 3 or 6 months, dependent on age, for a total of 3 years.
- Conditions
- Nemaline Myopathy
- Keywords
- Neuromuscular disease, Observational study, Congenital myopathy, Nemaline rod
- Medical subject headings
- Myopathies, Nemaline, Neuromuscular Diseases, Myotonia Congenita
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 |
|---|---|---|
| Individuals with Nemaline Myopathy | All participants in the study will have a diagnosis of Nemaline Myopathy, with either a pathogenic or likely pathogenic mutation in ACTA1 (AD) or NEB (AR). Participants can be either ambulatory or non-ambulatory and must be between the ages of 0-18. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Validate the change over 36 months using the Alberta Infant Motor Scale (AIMS) Score
The AIMS is a standardized tool used to assess a child's gross motor development in four positions: prone, supine, sitting, and standing. Percentile scores are given from 0-100, with higher percentiles representing higher motor function.
Measured: 36 months
Validate the change over 36 months using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND)
The CHOP-INTEND assesses a child's ability to move their body in a lying down position, supported sitting, and assisted rolling through 16 items.
Measured: 36 months
Validate the change over 36 months using the Hammersmith Infant Neurological Examination Section 2 (HINE-2)
This is a 37-item measure of infant developmental motor milestones divided into the following categories: neurological examination, developmental milestones and behavioral scale, and state of consciousness. Scores for individual categories will be combined into a composite score.This will be performed in participants aged 0-24months. Scores are interpreted in relation to optimality scores and cut-off scores for the participant's age. Higher scores represented higher function.
Measured: 36 months
Validate the change in 32-item Motor Function Measure (MFM32) Scale Score
This motor function assessment consists of 32 items organized in three dimensions: standing position and transfers, axial and limb proximal motor function, and limb distal motor function. Total scores are given between 0-100, with 0 indicating severe functional impairment and 100 indicating no functional impairment.
Measured: 36 months
Change in Peabody Developmental Motor Scales (PDMS-3) Scale Score
This is used to measure various motor abilities in young children. Four types of normative scores are yielded: age equivalents, percentile ranks, subtest scaled scores, and composite index scores. Age equivalents are indexes of relative standing that translate subtest raw scores into motor ages. Percentiles provide the examiner with an index that is easily understood. Subtest scaled scores are based on a distribution having a mean of 10 and a standard deviation of 3. Composite indexes are based on a distribution with a mean of 100 and a standard deviation of 15. Higher scores indicate higher level of function.
Measured: 36 months
Change in ambulation over 36 months as measured by the 10 meter walk (m/s).
This test measures the time taken for a participant to walk 10 metres as quickly and safely as possible. This will be performed in ambulatory participants aged 2 years and older.
Measured: 36 months
Change in ambulation over 36 months as measured by the 6 Minute Walk Test
This is a measure of how far a participant can walk along a track in 6 minutes. This will be performed in ambulatory participants aged 5 years and older.
Measured: 36 months
Change in respiratory function over 36 months as measured by spirometry, specifically the supine forced vital capacity (FVC).
This is a measure (% predicted) of the maximum amount of air that can be forcibly exhaled from your lungs after taking the deepest breath possible. This will be performed in participants aged 5 years and older.
Measured: 36 months
Secondary outcomes (2)
Change in muscle thickness of lower extremity muscles over 36 months as measured by muscle ultrasound.
This will be conducted in a subset of participants aged >5 years.
Measured: Baseline through month 36
Skin Biopsy (optional)
This optional outcome measure involves a one-time removal of three to four 2mm pieces of skin from one body site.
Measured: Baseline through month 36
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted14 Jan 2025
- Study startJan 2025 (estimated)
- Primary completionDec 2029 (estimated)
- Study completionDec 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 Stanford UniversityThe 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
- 50 participants (estimated)
- Target duration
- 3 Years
Sponsor and investigators
- Lead sponsor
- Stanford University
- Sponsor type
- University, hospital or other
- Collaborators
- A Foundation Building Strength
- Responsible party
- Principal investigator, Carolina Tesi-Rocha, Stanford University
- Investigators
- Carolina Tesi-Rocha, MD, Principal investigator, Stanford UniversityTina Duong, PT, PhD, Principal investigator, Stanford UniversityJohn W Day, MD, PhD, Principal investigator, Stanford UniversityLeslie Hayes, MD, Principal investigator, Boston Children's HospitalAlan Beggs, PhD, Principal investigator, Boston Children's HospitalJim Dowling, MD, PhD, Principal investigator, The Hospital for Sick ChildrenRichard Finkel, MD, Principal investigator, St Jude Children's HospitalCarsten Bonnemann, MD, PhD, Principal investigator, National Institutes of Health (NIH)
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT06774703
- Sponsor's protocol ID
- 72180
- Status last verified
- Jan 2025
- First submitted
- 14 Mar 2024
- Last updated
- 14 Jan 2025
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Yes
Study at a glance
From the registry record, last updated by the sponsor on 14 Jan 2025. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Nemaline Myopathy Clinical Research Network (NM-CTRN)
- ClinicalTrials.gov ID
- NCT06774703
- Acronym / sponsor ID
- 72180
- Conditions
- Nemaline Myopathy
- Keywords
- Neuromuscular disease, Observational study, Congenital myopathy, Nemaline rod
- Study type
- Observational
- Recruitment status
- Not yet recruiting
- Enrolment
- 50 participants (estimated)
- Lead sponsor
- Stanford UniversityUniversity, hospital or other
- Collaborators
- A Foundation Building Strength
- Study start
- Jan 2025 (estimated)
- Primary completion
- Dec 2029 (estimated)
- Study completion
- Dec 2029 (estimated)
- First posted
- 14 Jan 2025 (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 establish a research network to help define the natural disease history and clinical outcome measures for Nemaline Myopathy (NM).
Detailed description
The long-term aim of this study is to incorporate these outcome measures into clinical trials for NM therapies. Outcome measures to be assessed will be dependent on the participant's age and functional status. Follow-up visits will be conducted either every 3 or 6 months, dependent on age, for a total of 3 years.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Target follow-up
- 3 Years
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Individuals with Nemaline Myopathy | – | –All participants in the study will have a diagnosis of Nemaline Myopathy, with either a pathogenic or likely pathogenic mutation in ACTA1 (AD) or NEB (AR). Participants can be either ambulatory or non-ambulatory and must be between the ages of 0-18. |
Who may qualify
- Ages
- 0 to 18 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult
- Study population
- Participants will be identified through several sources. The primary source will be through our NM-CRN MDA care center network. Participants will also be recruited through the CMDIR and the Beggs Laboratory. Information regarding the study will be disseminated to all MDA clinics through the MDA website and via email to clinic directors. In addition, the study will advertised to families through A Foundation Building Strength, which maintains a patient information website and newsletter.
Key inclusion criteria (3 listed)
- 0-18 years of age at recruitment
- Confirmation of Nemaline Myopathy (pathogenic or likely pathogenic mutations in ACTA1 (AD) or NEB (AR)
- Patient and/or parent or legal guardian must be willing and able to provide informed consent
Key exclusion criteria (4 listed)
- Clinically significant medical finding on the physical examination, other than NM, that the Investigator deems unsuitable for participation in and/or completion of the study procedures
- 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 Principal Investigator (PI)
- Participants of ongoing (interventional) clinical trials that assess the efficacy of potential treatments will be excluded
- Safety concerns
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
Validate the change over 36 months using the Alberta Infant Motor Scale (AIMS) Score
Time frame: 36 months
The AIMS is a standardized tool used to assess a child's gross motor development in four positions: prone, supine, sitting, and standing. Percentile scores are given from 0-100, with higher percentiles representing higher motor function.
Validate the change over 36 months using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND)
Time frame: 36 months
The CHOP-INTEND assesses a child's ability to move their body in a lying down position, supported sitting, and assisted rolling through 16 items.
Validate the change over 36 months using the Hammersmith Infant Neurological Examination Section 2 (HINE-2)
Time frame: 36 months
This is a 37-item measure of infant developmental motor milestones divided into the following categories: neurological examination, developmental milestones and behavioral scale, and state of consciousness. Scores for individual categories will be combined into a composite score.This will be performed in participants aged 0-24months. Scores are interpreted in relation to optimality scores and cut-off scores for the participant's age. Higher scores represented higher function.
Validate the change in 32-item Motor Function Measure (MFM32) Scale Score
Time frame: 36 months
This motor function assessment consists of 32 items organized in three dimensions: standing position and transfers, axial and limb proximal motor function, and limb distal motor function. Total scores are given between 0-100, with 0 indicating severe functional impairment and 100 indicating no functional impairment.
Change in Peabody Developmental Motor Scales (PDMS-3) Scale Score
Time frame: 36 months
This is used to measure various motor abilities in young children. Four types of normative scores are yielded: age equivalents, percentile ranks, subtest scaled scores, and composite index scores. Age equivalents are indexes of relative standing that translate subtest raw scores into motor ages. Percentiles provide the examiner with an index that is easily understood. Subtest scaled scores are based on a distribution having a mean of 10 and a standard deviation of 3. Composite indexes are based on a distribution with a mean of 100 and a standard deviation of 15. Higher scores indicate higher level of function.
Change in ambulation over 36 months as measured by the 10 meter walk (m/s).
Time frame: 36 months
This test measures the time taken for a participant to walk 10 metres as quickly and safely as possible. This will be performed in ambulatory participants aged 2 years and older.
Change in ambulation over 36 months as measured by the 6 Minute Walk Test
Time frame: 36 months
This is a measure of how far a participant can walk along a track in 6 minutes. This will be performed in ambulatory participants aged 5 years and older.
Change in respiratory function over 36 months as measured by spirometry, specifically the supine forced vital capacity (FVC).
Time frame: 36 months
This is a measure (% predicted) of the maximum amount of air that can be forcibly exhaled from your lungs after taking the deepest breath possible. This will be performed in participants aged 5 years and older.
2 secondary outcomes
Change in muscle thickness of lower extremity muscles over 36 months as measured by muscle ultrasound.
Time frame: Baseline through month 36
Skin Biopsy (optional)
Time frame: Baseline through month 36
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 14 Jan 2025.
- Individual participant dataSharing planned: Yes
Related trials for Nemaline Myopathy
Active, not recruiting
Effects of Whole-body Electrical Muscle Stimulation Exercise on Adults With Neuromuscular Disease
Neuromuscular Diseases (NMD), Amyotrophic Lateral Sclerosis
RecruitingObservational study
WiTNNess - TNNT1 Myopathy Natural History Study
TNNT1-associated Myopathy, Infantile-onset Nemaline Rod Myopathy
Active, not recruitingObservational study
Natural History Study for Patients With Nemaline Myopathy in the UK
Nemaline Myopathy
RecruitingObservational study
Molecular and Genetic Studies of Congenital Myopathies
Central Core Disease, Centronuclear Myopathy
Not yet recruiting
Natural History Study for Patients With Nemaline Myopathy in Belgium
Nemaline Myopathy
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.
Carolina Tesi-Rocha, MD principal investigator
Stanford University
Tina Duong, PT, PhD principal investigator
Stanford University
John W Day, MD, PhD principal investigator
Stanford University
6 sites in 2 countries: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Nemaline Myopathy, run by Stanford University at 6 sites in 2 countries.
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 3 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: opening soon, as of the sponsor's last update on 14 Jan 2025. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 6 sites in United States, Canada. 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?
Contact Carolina Tesi-Rocha, MD (650-723-0993, ctesiroc@stanford.edu), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Validate the change over 36 months using the Alberta Infant Motor Scale (AIMS) Score (time frame: 36 months). The study lists 8 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 14 Jan 2025.