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

This study has been completed.
Sponsor:
Collaborator:
Beth Israel Deaconess Medical Center
Information provided by (Responsible Party):
Basil Darras, Children's Hospital Boston
ClinicalTrials.gov Identifier:
NCT01491555
First received: December 5, 2011
Last updated: March 23, 2016
Last verified: March 2016
  Purpose

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
Duchenne Muscular Dystrophy

Study Type: Observational
Study Design: Observational Model: Case Control
Time Perspective: Prospective
Official Title: Electrical Impedance Myography and Ultrasound as Biomarkers of Duchenne Muscular Dystrophy

Resource links provided by NLM:


Further study details as provided by Boston Children’s Hospital:

Primary Outcome Measures:
  • The rate of decline of DMD patients versus normal subjects as assessed by EIM and quantitative ultrasound [ Time Frame: up to 45 months ] [ Designated as safety issue: No ]
    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:
  • 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 ] [ Designated as safety issue: No ]
    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.


Enrollment: 73
Study Start Date: April 2012
Study Completion Date: September 2015
Primary Completion Date: September 2015 (Final data collection date for primary outcome measure)
Groups/Cohorts
DMD patients
35 boys ages 2 through 30 with DMD
Control Group
35 healthy boys ages 2 through 30

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.
  Eligibility

Ages Eligible for Study:   2 Years to 30 Years   (Child, Adult)
Genders 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
Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the Contacts provided below. For general information, see Learn About Clinical Studies.

Please refer to this study by its ClinicalTrials.gov identifier: NCT01491555

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

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 
Study First Received: December 5, 2011
Last Updated: March 23, 2016
Health Authority: United States: Institutional Review Board
Individual Participant Data  
Plan to Share IPD: Undecided

Keywords provided by Boston Children’s Hospital:
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

ClinicalTrials.gov processed this record on August 29, 2016