Clinical trial NCT06774703: Nemaline Myopathy Clinical Research Network (NM-CTRN)
Official title: Nemaline Myopathy Clinical Research Network (NM-CTRN)
Study type: OBSERVATIONAL
Overall status: NOT_YET_RECRUITING
Conditions: Nemaline Myopathy
Keywords: Neuromuscular disease
Observational study
Congenital myopathy
Nemaline rod
Lead sponsor: Stanford University
Sponsor class: OTHER
Collaborators: name: A Foundation Building Strength
First posted: 2025-01-14
Enrollment: 50
Sex: ALL
Minimum age (years): 0
Maximum age (years): 18
Standard ages: CHILD
ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
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.

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.

Eligibility criteria: 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 outcomes:
measure: Validate the change over 36 months using the Alberta Infant Motor Scale (AIMS) Score
timeFrame: 36 months
measure: Validate the change over 36 months using the Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP-INTEND)
timeFrame: 36 months
measure: Validate the change over 36 months using the Hammersmith Infant Neurological Examination Section 2 (HINE-2)
timeFrame: 36 months
measure: Validate the change in 32-item Motor Function Measure (MFM32) Scale Score
timeFrame: 36 months
measure: Change in Peabody Developmental Motor Scales (PDMS-3) Scale Score
timeFrame: 36 months
measure: Change in ambulation over 36 months as measured by the 10 meter walk (m/s).
timeFrame: 36 months
measure: Change in ambulation over 36 months as measured by the 6 Minute Walk Test
timeFrame: 36 months
measure: Change in respiratory function over 36 months as measured by spirometry, specifically the supine forced vital capacity (FVC).
timeFrame: 36 months
Secondary outcomes:
measure: Change in muscle thickness of lower extremity muscles over 36 months as measured by muscle ultrasound.
timeFrame: Baseline through month 36
measure: Skin Biopsy (optional)
timeFrame: Baseline through month 36
Other outcomes:
Locations:
city: Palo Alto
country: United States
facility: Stanford University/Lucile Packard Children's Hospital
state: California
city: Bethesda
country: United States
facility: National Institute of Health
state: Maryland
city: Boston
country: United States
facility: Boston Children's Hospital
state: Massachusetts
city: Memphis
country: United States
facility: St Jude Children's Research Hospital
state: Tennessee
city: Dallas
country: United States
facility: UT Southwestern Medical Centre/Children's Health Dallas
state: Texas
city: Toronto
country: Canada
facility: The Hospital for Sick Children
state: Ontario
Study officials:
affiliation: Stanford University
name: Carolina Tesi-Rocha, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Stanford University
name: Tina Duong, PT, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Stanford University
name: John W Day, MD, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Boston Children's Hospital
name: Leslie Hayes, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Boston Children's Hospital
name: Alan Beggs, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: The Hospital for Sick Children
name: Jim Dowling, MD, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: St Jude Children's Hospital
name: Richard Finkel, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: National Institutes of Health (NIH)
name: Carsten Bonnemann, MD, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: UT Southwestern Medical Centre
name: Kaitlin Batley, MD
role: PRINCIPAL_INVESTIGATOR
References: