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NCT Number: NCT06774703

Nemaline Myopathy Clinical Research Network (NM-CTRN)

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).

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Key information

Conditions

Nemaline Myopathy Congenital, Hereditary, and Neonatal Diseases and Abnormalities Genetic Diseases, Inborn Heredodegenerative Disorders, Nervous System Muscular Diseases Musculoskeletal Diseases Myopathies, Nemaline Myopathies, Structural, Congenital Myotonia Congenita Myotonic Disorders Nervous System Diseases Neurodegenerative Diseases Neuromuscular Diseases

Age range

0 year–18 year

Sex eligibility

All sexes

Study type

Observational

Primary location

The Hospital for Sick Children, Toronto, Ontario, Canada

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About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

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

Treatment and study plan

Primary outcomes

  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. 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.

  6. 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.

  7. 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.

  8. 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.

Secondary outcomes

  1. Change in muscle thickness of lower extremity muscles over 36 months as measured by muscle ultrasound.

    Time frame: Baseline through month 36

    This will be conducted in a subset of participants aged >5 years.

  2. Skin Biopsy (optional)

    Time frame: Baseline through month 36

    This optional outcome measure involves a one-time removal of three to four 2mm pieces of skin from one body site.

Study contacts

Contact information is provided by the study sponsor or research team.

Carolina Tesi-Rocha, MD

CONTACT

[email protected]

650-723-0993

Sarah Ismail, BSc

CONTACT

[email protected]

650-460-4596

Sponsors and collaborators

Lead sponsor

Stanford University

Other

Collaborators

  • A Foundation Building Strength

Registry information

Important dates

Study start
2025
Primary completion
2029
Study completion
2029
First posted
Jan 14, 2025
Registry last updated
Jan 14, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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