Nemaline Myopathy Clinical Research Network (NM-CTRN)

NCT06774703 | Not Yet Recruiting DMC

• 1 other identifier: 72180
• Study Type: observational
• Target: 50
• Locations: 2 countries
• Sites: 6

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).

Conditions

Nemaline Myopathy

Keywords

Neuromuscular disease; Observational study; Congenital myopathy; Nemaline rod

Outcome Measures

Primary Outcomes (8)

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

  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.

  36 months

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

  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.

  36 months

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

  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.

  36 months

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

  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.

  36 months

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

  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.

  36 months

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

  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.

  36 months

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

  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.

  36 months

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

  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.

  36 months

Secondary Outcomes (2)

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

  Baseline through month 36

• Skin Biopsy (optional)

  Baseline through month 36

Study Arms (1)

Individuals with Nemaline Myopathy

All participants in the study will have a diagnosis of Nemaline Myopathy, with either a pathogenic or likely pathogenic mutation in ACTA1 (AD) or NEB (AR). Participants can be either ambulatory or non-ambulatory and must be between the ages of 0-18.

Eligibility Criteria

• Age: 0 Years - 18 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64)
• Sampling Method: Non-Probability Sample

Study Population

Participants will be identified through several sources. The primary source will be through our NM-CRN MDA care center network. Participants will also be recruited through the CMDIR and the Beggs Laboratory. Information regarding the study will be disseminated to all MDA clinics through the MDA website and via email to clinic directors. In addition, the study will advertised to families through A Foundation Building Strength, which maintains a patient information website and newsletter.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Stanford University: lead
• A Foundation Building Strength: collaborator

Study Sites (6)

Stanford University/Lucile Packard Children's Hospital

Palo Alto, California, 94304, United States

Location

National Institute of Health

Bethesda, Maryland, 20892, United States

Location

Boston Children's Hospital

Boston, Massachusetts, 02115, United States

Location

St Jude Children's Research Hospital

Memphis, Tennessee, 38105, United States

Location

UT Southwestern Medical Centre/Children's Health Dallas

Dallas, Texas, 75207, United States

Location

The Hospital for Sick Children

Toronto, Ontario, M5G 1E8, Canada

Location

Biospecimen

Retention: SAMPLES WITH DNA

Plasma, serum and DNA samples will be retained. Exact amounts will depend on age of participant.

MeSH Terms

Conditions

Myopathies, Nemaline; Neuromuscular Diseases; Myotonia Congenita

Condition Hierarchy (Ancestors)

Myopathies, Structural, Congenital; Muscular Diseases; Musculoskeletal Diseases; Nervous System Diseases; Myotonic Disorders; Heredodegenerative Disorders, Nervous System; Neurodegenerative Diseases; Genetic Diseases, Inborn; Congenital, Hereditary, and Neonatal Diseases and Abnormalities

Study Officials

• Carolina Tesi-Rocha, MD

  Stanford University

  PRINCIPAL INVESTIGATOR

• Tina Duong, PT, PhD

  Stanford University

  PRINCIPAL INVESTIGATOR

• John W Day, MD, PhD

  Stanford University

  PRINCIPAL INVESTIGATOR

• Leslie Hayes, MD

  Boston Children's Hospital

  PRINCIPAL INVESTIGATOR

• Alan Beggs, PhD

  Boston Children's Hospital

  PRINCIPAL INVESTIGATOR

• Jim Dowling, MD, PhD

  The Hospital for Sick Children

  PRINCIPAL INVESTIGATOR

• Richard Finkel, MD

  St Jude Children's Hospital

  PRINCIPAL INVESTIGATOR

• Carsten Bonnemann, MD, PhD

  National Institutes of Health (NIH)

  PRINCIPAL INVESTIGATOR

• Kaitlin Batley, MD

  UT Southwestern Medical Centre

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Carolina Tesi-Rocha, MD

CONTACT

650-723-0993; ctesiroc@stanford.edu

Sarah Ismail, BSc

CONTACT

650-460-4596; sismail@stanford.edu

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Target Duration: 3 Years
• Sponsor Type: OTHER
• Responsible Party: PRINCIPAL INVESTIGATOR
• PI Title: Clinical Professor

Study Record Dates

• First Submitted: March 14, 2024
• First Posted: January 14, 2025
• Study Start: January 1, 2025
• Primary Completion (Estimated): December 1, 2029
• Study Completion (Estimated): December 1, 2029
• Last Updated: January 14, 2025

Record last verified: 2025-01

Data Sharing

• IPD Sharing: Will share

Locations

CA (1); US (5)