Not Yet RecruitingNot Applicable

Nemaline Myopathy Clinical Research Network (NM-CTRN)

United States, Canada50 participantsStarted 2025-01

Plain-language 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).

Who can participate

Age range

0 Years – 18 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

Inclusion Criteria: * 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 Exclusion Criteria: * 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

Questions worth asking your doctor

Bring these to your next appointment. They're a starting point for a shared conversation — not a sign you qualify or a recommendation to enrol.

1Based on my diagnosis and history, is this trial worth exploring for me — or is there a standard treatment we should try first?
2What does this trial's phase tell us about how much is already known about its safety and benefit?
3What would taking part actually involve for me — visits, tests, time, and travel?
4What are the known and possible risks or side effects I should weigh, and how would they be monitored?
5If this trial isn't the right fit, what other options or trials would you suggest I look into?

Generated to help you prepare — always confirm anything about your own eligibility and care with the study team and your doctor.

Questions for the trial coordinator

The trial coordinator is the person who runs the study day to day. These cover the practical side — logistics, costs, and what taking part would actually mean for your life. The study team confirms whether you meet the criteria; these are questions to ask, not a sign you qualify.

1What does taking part actually involve week to week — how many visits, where, and how long does each one take?
2What costs are covered by the study, and what might I have to pay for myself, including travel, parking, or time off work?
3What happens during screening, and what happens if the study team confirms I don't meet the criteria after those tests?
4Who pays for the scans, blood work, and other tests the trial requires — the study, my insurance, or me?
5How will being in the trial affect my regular care, and will my own doctor stay informed and involved?
6Can I leave the trial at any point if I change my mind, and what would happen to my care if I do?

A starting point for the conversation — always confirm anything about your own eligibility, costs, and care with the study team and your doctor.

What they're measuring

Validate the change over 36 months using the Alberta Infant Motor Scale (AIMS) Score

Timeframe: 36 months

Validate the change over 36 months using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND)

Timeframe: 36 months

Validate the change over 36 months using the Hammersmith Infant Neurological Examination Section 2 (HINE-2)

Timeframe: 36 months

Validate the change in 32-item Motor Function Measure (MFM32) Scale Score

Timeframe: 36 months

Change in Peabody Developmental Motor Scales (PDMS-3) Scale Score

Timeframe: 36 months

Change in ambulation over 36 months as measured by the 10 meter walk (m/s).

Timeframe: 36 months

Change in ambulation over 36 months as measured by the 6 Minute Walk Test

Timeframe: 36 months

Trial details

NCT IDNCT06774703

SponsorStanford University

Sponsor typeOTHER

Study typeOBSERVATIONAL

Primary completion2029-12

Contact for this trial

Carolina Tesi-Rocha, MD

650-723-0993 ctesiroc@stanford.edu

View on ClinicalTrials.gov More Nemaline Myopathy trials

Who can participate

Age range

0 Years – 18 Years

Sex

ALL

See this in plain English?

AI-rewrites the medical criteria so a patient or caregiver can understand them. Always confirm with the trial site.

What they're measuring

Validate the change over 36 months using the Alberta Infant Motor Scale (AIMS) Score

Timeframe: 36 months

Validate the change over 36 months using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND)

Timeframe: 36 months

Validate the change over 36 months using the Hammersmith Infant Neurological Examination Section 2 (HINE-2)

Timeframe: 36 months

Validate the change in 32-item Motor Function Measure (MFM32) Scale Score

Timeframe: 36 months

Change in Peabody Developmental Motor Scales (PDMS-3) Scale Score

Timeframe: 36 months

Change in ambulation over 36 months as measured by the 10 meter walk (m/s).

Timeframe: 36 months

Change in ambulation over 36 months as measured by the 6 Minute Walk Test

Timeframe: 36 months