Nemaline Myopathy
Conditions
Keywords
Neuromuscular disease, Observational study, Congenital myopathy, Nemaline rod
Brief 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).
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.
Interventions
None listed
Sponsors
A Foundation Building Strength
Stanford University
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
0 Years to 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
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| 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. |
| 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. |
| 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. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Skin Biopsy (optional) | 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. |
| Change in muscle thickness of lower extremity muscles over 36 months as measured by muscle ultrasound. | Baseline through month 36 | This will be conducted in a subset of participants aged \>5 years. |
Countries
Canada, United States
Contacts
Primary ContactCarolina Tesi-Rocha, MD
Backup ContactSarah Ismail, BSc
Outcome results
None listed