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Biomarker Development for Muscular Dystrophies

The safety and scientific validity of this study is the responsibility of the study sponsor and investigators. Listing a study does not mean it has been evaluated by the U.S. Federal Government. Know the risks and potential benefits of clinical studies and talk to your health care provider before participating. Read our disclaimer for details.
 
ClinicalTrials.gov Identifier: NCT05019625
Recruitment Status : Recruiting
First Posted : August 25, 2021
Last Update Posted : August 25, 2021
Sponsor:
Collaborators:
Boston Children's Hospital
Wake Forest University
University of Pittsburgh
Brigham and Women's Hospital
Information provided by (Responsible Party):
Thurman Wheeler, M.D, Massachusetts General Hospital

Brief Summary:
Current methods of measuring the response to new treatments for muscular dystrophies involve the examination of small pieces of muscle tissue called biopsies. The investigators are interested in finding less invasive methods that reduce the need for muscle biopsies. The purpose of this research is to learn about the possibility of detecting and measuring the activity and severity of muscular dystrophies by examining a urine sample and a blood sample, and some muscles in the arms and legs using tests called ultrasound and electrical impedance myography; both tests are painless and non-invasive. The information that is gathered from this study may help to evaluate, prevent, diagnose, treat, and improve the understanding of human muscle diseases.

Condition or disease
Myotonic Dystrophy Duchenne Muscular Dystrophy Becker Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy

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Study Type : Observational
Estimated Enrollment : 465 participants
Observational Model: Cohort
Time Perspective: Prospective
Official Title: Biomarker Development for Muscular Dystrophies
Actual Study Start Date : February 20, 2015
Estimated Primary Completion Date : June 2026
Estimated Study Completion Date : June 2027


Group/Cohort
Single biofluid collection
We will ask eligible volunteers to provide a single urine sample and undergo a single blood draw.
Serial biofluid and muscle function testing
We will ask eligible volunteers to provide a urine sample, a blood sample, and undergo standard muscle function tests once every six months over a two-year period, and undergo pulmonary function tests and electrocardiogram once per year for two years.
Biofluid and muscle tissue biopsy
We will ask eligible volunteers to provide a urine sample and undergo a muscle biopsy once.
Ultrasound and myography testing
We will ask eligible volunteers to provide a single urine sample, a single blood draw, and undergo ultrasound and electrical impedance myography studies once.



Primary Outcome Measures :
  1. Extracellular RNA in biofluids [ Time Frame: 6 years ]
    The extracellular RNA biomarkers in the muscular dystrophy groups will be evaluated and compared with the extracellular RNA content in control groups. Statistical analysis will be used to evaluate the sensitivity and specificity of these markers as measurements of disease activity and severity based on clinical measurements of muscle power, electrocardiogram parameters, pulmonary function test parameters, muscle tissue composition using quantitative ultrasound and electrical impedance myography, and muscle tissue specimens.


Biospecimen Retention:   Samples With DNA
biofluid; muscle tissue


Information from the National Library of Medicine

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Ages Eligible for Study:   5 Years and older   (Child, Adult, Older Adult)
Sexes Eligible for Study:   All
Accepts Healthy Volunteers:   Yes
Sampling Method:   Non-Probability Sample
Study Population
Males and females ages 5 years and older with myotonic dystrophy type 1 (DM1), myotonic dystrophy type 2 (DM2), Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and facioscapulohumeral muscular dystrophy (FSHD) confirmed by genetic testing or by clinical history and examination are invited to participate. In addition, male and female healthy volunteers ages 18 and older also are invited to participate.
Criteria

Inclusion Criteria:

  • Subjects with DM1 or DM2 based on genetic testing and/or clinical criteria (some subjects who have positive genetic testing may be asymptomatic, while other subjects who show characteristic clinical features may have declined to have genetic testing done). Control non-DM subjects are unknown to have DM or any other muscular dystrophy by history and may have had no genetic testing.
  • Able to provide informed consent or assent for participation in the study.
  • Demographic characteristics for single biofluid collection: Males and females age 5 years and older.
  • Demographic characteristics for serial biofluid and muscle function testing: Males and females age 14 years and older with DM1.
  • Demographic characteristics for biofluid and muscle biopsy: Males and females, ages 18-65 years.

Demographic characteristics for single biofluid collection, ultrasound, and myography: Males and females age 14 years and older.

Exclusion Criteria:

  • Medical history of any of the following. State of immunosuppression; coagulopathy; pre-existing liver or kidney disease; documented HIV positive; documented hepatitis B and/or C positive.
  • Medications and other drugs. Use of anti-platelet drugs within 7 days prior to blood draw or biopsy; use of anticoagulants within 60 days prior to blood draw or biopsy; active drug or alcohol use or dependence that, in the opinion of the biopsy surgeon, would interfere with post-procedure wound care.
  • Other. Inability or unwillingness of the subject to give written informed consent.

Information from the National Library of Medicine

To learn more about this study, you or your doctor may contact the study research staff using the contact information provided by the sponsor.

Please refer to this study by its ClinicalTrials.gov identifier (NCT number): NCT05019625


Contacts
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Contact: Parker Conquest 617-726-7506 econquest@mgh.harvard.edu
Contact: Brigham McKee 617-726-7506 bmckee2@mgh.harvard.edu

Locations
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United States, Massachusetts
Boston Children's Hospital Active, not recruiting
Boston, Massachusetts, United States, 02115
Brigham and Women's Hospital Recruiting
Boston, Massachusetts, United States, 02115
Contact: Louis Beers       lbeers@bwh.harvard.edu   
Principal Investigator: Anthony Amato, MD         
Massachusetts General Hospital Recruiting
Boston, Massachusetts, United States, 02129
Contact: Parker Conquest    617-726-7506    econquest@mgh.harvard.edu   
Contact: Brigham McKee    617-726-7506    bmckee2@mgh.harvard.edu   
Principal Investigator: Thurman M. Wheeler, MD         
Sub-Investigator: Paloma Gonzalez-Perez, MD, PhD         
United States, North Carolina
Wake Forest University Recruiting
Winston-Salem, North Carolina, United States, 27157
Contact: Constance Linville    336-716-4568    clinvill@wakehealth.edu   
Principal Investigator: Araya Puwanant, MD         
United States, Pennsylvania
University of Pittsburgh Recruiting
Pittsburgh, Pennsylvania, United States, 15213
Contact: Kerry M. Oddis, RN, CCRC    412-692-4918    kmoddis@upmc.edu   
Principal Investigator: Paula R. Clemens, MD         
Sponsors and Collaborators
Massachusetts General Hospital
Boston Children's Hospital
Wake Forest University
University of Pittsburgh
Brigham and Women's Hospital
Investigators
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Principal Investigator: Thurman M. Wheeler, MD Massachusetts General Hospital
Publications:
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Responsible Party: Thurman Wheeler, M.D, Physician Scientist, Massachusetts General Hospital
ClinicalTrials.gov Identifier: NCT05019625    
Other Study ID Numbers: 2014P001727
First Posted: August 25, 2021    Key Record Dates
Last Update Posted: August 25, 2021
Last Verified: August 2021
Individual Participant Data (IPD) Sharing Statement:
Plan to Share IPD: No

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Studies a U.S. FDA-regulated Drug Product: No
Studies a U.S. FDA-regulated Device Product: No
Additional relevant MeSH terms:
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Muscular Dystrophies
Muscular Dystrophy, Duchenne
Myotonic Dystrophy
Muscular Dystrophy, Facioscapulohumeral
Muscular Disorders, Atrophic
Muscular Diseases
Musculoskeletal Diseases
Neuromuscular Diseases
Nervous System Diseases
Genetic Diseases, Inborn
Genetic Diseases, X-Linked
Myotonic Disorders
Heredodegenerative Disorders, Nervous System
Neurodegenerative Diseases