Electrical Impedance Myography and Ultrasound as Biomarkers of Duchenne Muscular Dystrophy (QED)

Study Description

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Brief Summary:

Researchers at Children's Hospital Boston Neurology Department invite children to participate in a new research study. Researchers are looking for boys ages 2 - 30 with Duchenne Muscular Dystrophy (DMD) and healthy boys ages 2 - 30 (without any nerve or muscle concerns) to serve as controls. The study is evaluating a new technique that will test nerve and muscle function. The testing is all pain free.

Children participating in the study will come in for 10 visits over two years. Visits will take place every month at first, then less often for the remaining visits. The tests for the study itself take approximately 2hours. If participants are interested or would like to learn more about the study, please call Lavanya Madabusi at 617-919-3554 or Lavanya.Madabusi@childrens.harvard.edu. All inquiries will be kept strictly confidential.

Condition or disease
Duchenne Muscular Dystrophy

Detailed Description:

Characterized by progressive disability leading to death, Duchenne muscular dystrophy (DMD) remains one of the most common and devastating neuromuscular disorders of childhood. Although a variety of promising new treatment strategies are in development, outcome measures for clinical trials remain limited for the most part to a set of functional measures, such as the six-minute walk test. While clearly useful, such measures are impacted by unrelated factors, such as mood and effort, and have limited repeatability. To address this and other limitations, magnetic resonance imaging (MRI) is now being investigated as a surrogate measure. However, more easily applied, cost-effective, office-based surrogate measures that provide high repeatability and sensitivity while still correlating strongly to disease status would find wider use in Phase II and possibly in Phase III clinical trials in DMD. Quantitative ultrasound (QUS) and electrical impedance myography (EIM) are two techniques that could serve in this role. In QUS, muscle pathology (fibrosis and fatty infiltration) in DMD results in an increase in energy reflected back (backscatter) to the ultrasound. The amount of backscatter can be measured directly by analyzing the raw frequency-based acoustic data or indirectly by controlled processing of the gray-scale image. EIM, in contrast, relies upon the application of localized electrical current and measurement of the resulting surface voltages, but is similarly impacted by the fibrotic changes that develop as muscle disease progresses. Here, the investigators propose to evaluate and compare both methodologies simultaneously in a group of DMD patients and normal subjects in order to assess their ability to identify clinically meaningful alterations in muscle health over short intervals of time. As a final exploratory analysis, the investigators will also study the possibility of combining the two modalities. The results of this work will have broad application as they could be applied to a variety of neuromuscular conditions, including other muscular dystrophies. Thus, the hypothesis of this proposal is that both QUS and EIM can serve as convenient, non-invasive, clinically meaningful surrogate markers of disease progression in DMD that surpass the functional measures currently in use.

Study Design

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Study Type :	Observational
Actual Enrollment :	73 participants
Observational Model:	Case Control
Time Perspective:	Prospective
Official Title:	Electrical Impedance Myography and Ultrasound as Biomarkers of Duchenne Muscular Dystrophy
Study Start Date :	April 2012
Actual Primary Completion Date :	September 2015
Actual Study Completion Date :	September 2015

Groups and Cohorts

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Group/Cohort
DMD patients; 35 boys ages 2 through 30 with DMD
Control Group; 35 healthy boys ages 2 through 30

Outcome Measures

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Primary Outcome Measures :

1. The rate of decline of DMD patients versus normal subjects as assessed by EIM and quantitative ultrasound [ Time Frame: up to 45 months ]
   With the successful completion of this aim, the investigators will establish that alterations in both EIM and QUS provide meaningful surrogate measures of disease progression in DMD.

Secondary Outcome Measures :

1. The rate of decline of DMD patients versus normal subjects as assessed by handheld dynamometry, 6-minute walk, and other functional tests. [ Time Frame: up to 45 months ]
   With the successful completion of this aim, the investigators will establish that alterations in functional assessments may provide additional meaningful surrogate measures of disease progression in DMD.

Eligibility Criteria

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Ages Eligible for Study:	2 Years to 30 Years (Child, Adult)
Sexes Eligible for Study:	Male
Accepts Healthy Volunteers:	Yes
Sampling Method:	Non-Probability Sample

Study Population

This study will involve boys with DMD and healthy male controls.

Criteria

Inclusion criteria (DMD):

1. Genetically or histologically established diagnosis of DMD
2. Male, age 2 - 30

Inclusion criteria (Control):

1. Male, age 2 - 30

Exclusion criteria (DMD):

1. Presence of implanted pacemaker or other electrical device
2. Presence of a superimposed neuromuscular or other medical condition that substantially impacts the individual's health

Exclusion criteria (control):

1. Presence or past history of a neuromuscular disorder or other disease that substantially impacts health
2. Presence of implanted pacemaker or other electrical device.

Contacts and Locations

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Locations

United States, Massachusetts
Children's Hospital Boston
Boston, Massachusetts, United States, 02115

Sponsors and Collaborators

Boston Children’s Hospital

Beth Israel Deaconess Medical Center

Investigators

Principal Investigator:	Basil Darras, MD	Boston Children’s Hospital
Principal Investigator:	Seward Rutkove, MD	Beth Israel Deaconess Medical Center

More Information

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Study Description Study Design Groups and Cohorts Outcome Measures Eligibility Criteria Contacts and Locations More Information

Responsible Party:	Basil Darras, Basil Darras, M.D., Children's Hospital Boston
ClinicalTrials.gov Identifier:	NCT01491555 History of Changes
Other Study ID Numbers:	IRB-P00001218
First Posted:	December 14, 2011
Last Update Posted:	March 24, 2016
Last Verified:	March 2016
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD:	Undecided

Keywords provided by Basil Darras, Children's Hospital Boston:

Duchenne Muscular Dystrophy; DMD; controls; EIM; QUS

Additional relevant MeSH terms:

Muscular Dystrophies; Muscular Dystrophy, Duchenne; Muscular Disorders, Atrophic; Muscular Diseases; Musculoskeletal Diseases	Neuromuscular Diseases; Nervous System Diseases; Genetic Diseases, Inborn; Genetic Diseases, X-Linked