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).
Eligibility
Sex
ALL
Min age
0 Years
Max age
18 Years
Healthy volunteers
No
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
Primary outcome measure(s)
Validate the change over 36 months using the Alberta Infant Motor Scale (AIMS) Score — 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) — 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) — 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 — 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 — 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). — 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 — 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). — 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.
This page summarises publicly available registry data for informational purposes — not medical advice. Eligibility is determined by each study team; patients should discuss participation with their clinician.
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