Biomarker Development for Muscular Dystrophies

NCT ID: NCT05019625

Last Updated: 2025-11-24

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

465 participants

Study Classification

OBSERVATIONAL

Study Start Date

2015-02-20

Study Completion Date

2028-06-30

Brief Summary

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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.

Detailed Description

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Conditions

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Myotonic Dystrophy Duchenne Muscular Dystrophy Becker Muscular Dystrophy Facioscapulohumeral Muscular Dystrophy

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Study Groups

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Single biofluid collection

We will ask eligible volunteers to provide a single urine sample and undergo a single blood draw.

No interventions assigned to this group

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.

No interventions assigned to this group

Biofluid and muscle tissue biopsy

We will ask eligible volunteers to provide a urine sample and undergo a muscle biopsy once.

No interventions assigned to this group

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.

No interventions assigned to this group

Eligibility Criteria

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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.
Minimum Eligible Age

5 Years

Eligible Sex

ALL

Accepts Healthy Volunteers

Yes

Sponsors

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Boston Children's Hospital

OTHER

Sponsor Role collaborator

Wake Forest University

OTHER

Sponsor Role collaborator

University of Pittsburgh

OTHER

Sponsor Role collaborator

Brigham and Women's Hospital

OTHER

Sponsor Role collaborator

Massachusetts General Hospital

OTHER

Sponsor Role lead

Responsible Party

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Thurman Wheeler, M.D

Physician Scientist

Responsibility Role PRINCIPAL_INVESTIGATOR

Principal Investigators

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Thurman M. Wheeler, MD

Role: PRINCIPAL_INVESTIGATOR

Massachusetts General Hospital

Locations

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Boston Children's Hospital

Boston, Massachusetts, United States

Site Status ACTIVE_NOT_RECRUITING

Brigham and Women's Hospital

Boston, Massachusetts, United States

Site Status RECRUITING

Massachusetts General Hospital

Boston, Massachusetts, United States

Site Status RECRUITING

Wake Forest University

Winston-Salem, North Carolina, United States

Site Status RECRUITING

University of Pittsburgh

Pittsburgh, Pennsylvania, United States

Site Status RECRUITING

Countries

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United States

Central Contacts

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Tamkin Shahraki, MD

Role: CONTACT

617-726-7506

Facility Contacts

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Louis Beers

Role: primary

Tamkin Shahraki, MD

Role: primary

617-726-7506

Constance Linville

Role: primary

336-716-4568

Kerry M. Oddis, RN, CCRC

Role: primary

412-692-4918

References

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Antoury L, Hu N, Balaj L, Das S, Georghiou S, Darras B, Clark T, Breakefield XO, Wheeler TM. Analysis of extracellular mRNA in human urine reveals splice variant biomarkers of muscular dystrophies. Nat Commun. 2018 Sep 25;9(1):3906. doi: 10.1038/s41467-018-06206-0.

Reference Type BACKGROUND
PMID: 30254196 (View on PubMed)

Antoury L, Hu N, Darras B, Wheeler TM. Urine mRNA to identify a novel pseudoexon causing dystrophinopathy. Ann Clin Transl Neurol. 2019 May 17;6(6):1106-1112. doi: 10.1002/acn3.777. eCollection 2019 Jun.

Reference Type BACKGROUND
PMID: 31211175 (View on PubMed)

Other Identifiers

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2014P001727

Identifier Type: -

Identifier Source: org_study_id

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