Not Yet RecruitingNot Applicable

Nemaline Myopathy Clinical Research Network (NM-CTRN)

United States50 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 range0 Years – 18 Years

SexALL

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

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

Change in respiratory function over 36 months as measured by spirometry, specifically the supine forced vital capacity (FVC).

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 range0 Years – 18 Years

SexALL

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

Change in respiratory function over 36 months as measured by spirometry, specifically the supine forced vital capacity (FVC).