Biomarker Development for Muscular Dystrophies

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Brief Title

Biomarker Development for Muscular Dystrophies

Official Title

Biomarker Development for Muscular Dystrophies

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.
    



Study Type

Observational


Primary Outcome

Extracellular RNA in biofluids


Condition

Myotonic Dystrophy


Study Arms / Comparison Groups

 Single biofluid collection
Description:  We will ask eligible volunteers to provide a single urine sample and undergo a single blood draw.

Publications

* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.

Recruitment Information



Estimated Enrollment

465

Start Date

February 20, 2015

Completion Date

June 2027

Primary Completion Date

June 2026

Eligibility 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.
      

Gender

All

Ages

5 Years - N/A

Accepts Healthy Volunteers

Accepts Healthy Volunteers

Contacts

Thurman M. Wheeler, MD, 617-726-7506, [email protected]

Location Countries

United States

Location Countries

United States

Administrative Informations


NCT ID

NCT05019625

Organization ID

2014P001727


Responsible Party

Principal Investigator

Study Sponsor

Massachusetts General Hospital

Collaborators

 Boston Children's Hospital

Study Sponsor

Thurman M. Wheeler, MD, Principal Investigator, Massachusetts General Hospital


Verification Date

August 2021