Electrical Impedance Myography: Natural History Studies inNeuromuscular Disorders and Healthy Volunteers

Overview

Official title

Electrical Impedance Myography: Natural History Studies in Neuromuscular Disorders and Healthy Volunteers

Brief title

Electrical Impedance Myography: Natural History Studies inNeuromuscular Disorders and Healthy Volunteers

Registration type

ClinicalTrials.gov

NCT number

NCT01900132

Status

Recruiting

Study category

Interventional, Device, Genetic, Imaging

Sponsor / center

National Institute of Neurological Disorders and Stroke (NINDS)

Research center

Not stated in the official study record.

Collaborators

Not stated in the official study record.

Study type

Interventional study

Phase

Not applicable / observational

Enrollment

275

Start date

06-20-2013

Primary completion date

06-01-2027

Estimated / actual completion date

06-01-2027

Last source update

09-28-2026

What is being studied?

Study Description: This is a natural history study examining the utility of electrical impedance myography (EIM) device in the evaluation of neuromuscular disorders. This is a novel device so the initial step was to establish reproducibility of the data and expected normative values using the EIM device on healthy volunteers. In neuromuscular disorders, the EIM device will be used to understand the results in different types of neuromuscular disorders. A subset of subjects with neuromuscular disorders are studied serially as preliminary evaluation of its utility as a biomarker in clinical studies. The protocol includes both adult and pediatric subjects. Objectives: Primary objective: For subjects with neuromuscular disease, we aim to understand if EIM has utility in differentiating neuromuscular disorders in adult and pediatric subjects. Also, to perform preliminary serial studies to understand the EIM device potential use as biomarker in clinical studies. For healthy volunteers, the primary objective is reproducibility of results and the range of normative values in adult and pediatric subjects. Secondary objectives: The three parameters, phase, reactance, resistance will be followed serially as measures of change in pediatric population. As exploratory outcome measures, we will explore correlations between EIM and ultrasound and other electrodiagnostic methods. Endpoints: Primary endpoint: For healthy volunteers, intra and interrater reliability will be evaluated to determine the utility of EIM as a reproducible biomarker. Normative values will be developed using a range of ages, mixed gender, and race to be used as a basis of comparison with subjects with neuromuscular disorders. For subjects with neuromuscular disorders, patterns of phase, resistance and reactance in different types of neuromuscular disorders will be evaluated and examined for patterns specific to type of neuromuscular disorder. Secondary endpoint: The three parameters, phase, reactance, resistance will be followed serially as measures of change. This will be evaluated in small groups of neuromuscular disorders that are referred to this protocol. A cohort of pediatric healthy volunteers will be followed for two years for comparative data with pediatric subjects with neuromuscular disorders. Exploratory endpoint: The EIM phase, muscle ultrasound and possibly MUNIX will be compared in healthy volunteers.

Intervention(s)

Who may be eligible?

This is a simplified summary. The official study team or research center determines eligibility.

Population / disease status

Healthy control, Diagnosed ALS

Diagnosis / conditions

Neuromuscular Disease, Motor Neuron Disease, Inherited Neuromuscular Conditions, Inherited Neuropathies

Age

2 Years to 110 Years

Disease duration

Not stated in the official study record.

Respiratory criteria

Not stated in the official study record.

ALSFRS-R criteria

Not stated in the official study record.

Genetic criteria

The official eligibility criteria include language relevant to this topic; review the full criteria below.

Medication requirements

The official eligibility criteria include language relevant to this topic; review the full criteria below.

Major inclusion and exclusion criteria from the official record

* INCLUSION CRITERIA:

HEALTHY VOLUNTEERS-ADULTS

1. Healthy adults, male or female, aged 18 years old or older,
2. In good general health as evidenced by medical history
3. Stated willingness to comply with all study procedures and availability for the duration of the study.
4. Ability of subject to understand and the willingness to sign a written informed consent document.

HEALTHY VOLUNTEERS-PEDIATRIC

1. Healthy children, male or female, age 7-18,
2. In good general health as evidenced by medical history
3. Stated willingness to comply with all study procedures and availability for the duration of the study
4. Ability of subject or Legally Authorized Representative (LAR)) to understand and the willingness to sign a written informed consent document.

SUBJECTS WITH NEUROMUSCULAR DISEASE

Adult and pediatric, male or female, patients with a neuromuscular disorder are eligible even if the exact etiology of the disorder is unknown at the time of enrollment into this study. This will include neuropathy, myopathy and motor neuron disorders. It is expected that the subjects are undergoing appropriate standard diagnostic and genetic work-up outside of this protocol that will later clarify the specific etiology of the disorder. Movement disorders will also be included because of the prior research done on dystonia and EIM.

Inclusion criteria

1. Suspected motor neuron disease or
2. Suspected myopathy or
3. Suspected neuropathy or
4. Suspected movement disorders that impair intracortical processes
5. Age of 2 years or older
6. Ability of subject to sign a written informed consent document.

NIH EMPLOYEES:

NIH employees and staff may participate, however EMG Section, OCD, NINDS, employees may not participate.

EXCLUSION CRITERIA:

HEALTHY VOLUNTEERS-ADULTS

1. Medical conditions that require medications that affects the physiological measures being tested. Some conditions that may be excluded are diabetes, kidney and liver disease.
2. History of stroke, muscle disorders, peripheral neuropathy or spine surgery

HEALTHY VOLUNTEERS-PEDIATRIC

1. Medical conditions that require medications that affects the physiological measures being tested. Some conditions that may be excluded are diabetes, kidney and liver disease.
2. History of stroke, muscle disorders, peripheral neuropathy or spine surgery

SUBJECTS WITH NEUROMUSCULAR DISEASE:

No clinical evidence of a neuromuscular disorder on clinical evaluation.

Genetics

Gene-specific study?

No

Gene or variant

Any / Not gene-specific

Genetic test required?

Not stated in the official study record.

Known carrier required?

Not stated

Confirmed pathogenic variant required?

Not stated in the official study record.

Presymptomatic carriers eligible?

Not stated in the official study record.

At-risk relative eligible?

Not stated

Genetic test provided?

Not stated in the official study record.

Genetic counseling provided?

Not stated in the official study record.

Results returned / offered?

Not stated

Family history required?

Not stated in the official study record.

Study design

Randomized?

Not stated in the official study record.

Allocation

Not stated in the official study record.

Intervention model

Not stated in the official study record.

Masking

Not stated in the official study record.

Placebo

Not stated in the official study record.

Primary purpose

Not stated in the official study record.

Endpoints

Primary outcome measures

• Patients - EIM measures for a selection of muscles
• Healthy Volunteers - EIM measures for a selection of muscles with the aim of developing normative values for the NIH EMG lab

Secondary outcome measures

• Serial studies in pediatric patients
• Healthy Volunteers - exploratory correlations of ultrasound and electrodiagnostic methods such nerve conduction studies and less likely, EMG

A biomarker outcome should not automatically be interpreted as a clinical outcome.

Locations

Contact

Central contact: Candida C Silva · candida.silva@nih.gov · (301) 496-7428; Tanya J Lehky, M.D. · lehkyt@ninds.nih.gov · (301) 496-7428

Study official: Tanya J Lehky, M.D. · National Institute of Neurological Disorders and Stroke (NINDS) · PRINCIPAL_INVESTIGATOR