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Nemaline Myopathy Clinical Research Network (NM-CTRN)

ConditionNemaline Myopathy
Trial statusNot yet recruiting
Trial phaseNot listed
Trial typeObservational
Biological sexAll
Age0-18
SponsorStanford University

About this trial

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 criteria

This trial does not accept healthy volunteers

Qualifiers

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

Disqualifiers

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

Trial 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.

Trial design

Design model

Cohort

Time perspective

Prospective

Treatments tested in this trial

Not listed

Trial groups

50 Participants
are grouped into 1 trial group
Group A: Individuals with Nemaline Myopathy

Trial outcomes

Primary outcomes

1

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.

Time frame
36 months
2

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.

Time frame
36 months
3

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.

Time frame
36 months
4

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.

Time frame
36 months

Secondary outcomes

1

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

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

Time frame
Baseline through month 36
2

Skin Biopsy (optional)

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

Time frame
Baseline through month 36

Other outcomes

Sponsors and contacts

Click on the lead sponsor to view all of their trials.

Stanford University

Lead sponsor

A Foundation Building Strength

Collaborator

Source ClinicalTrials.gov

This trial is not recruiting at the moment. You can still explore other options: