Recruiting

RNA Biomarkers

Sponsor:

Massachusetts General Hospital

Code:

NCT05020002

Conditions

Myotonic Dystrophy

Eligibility Criteria

Sex: All

Age: 5+

Healthy Volunteers: Accepted

Study Details

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.

Conditions

Myotonic Dystrophy

Study ID

NCT05020002

Start date

Dec 8, 2020

Status verified date

Nov, 2025

Completion date

Dec, 2027

Anticipated

Primary completion date

Dec, 2026

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 5+

Healthy Volunteers: Accepted

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 (DM1, DM2, and non-DM).
  • Demographic characteristics for repeated measurements: Males and females age 14 years and older with DM1.
  • Demographic characteristics for biofluid and muscle biopsy: Males and females, ages 18-65 years.

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. Women that are pregnant, or intend to become pregnant, prior to the biopsy; urine pregnancy test that is positive; inability or unwillingness of the subject to give written informed consent.
  • Other. Inability or unwillingness of the subject to give written informed consent or assent.

Study Design

Enrollment

215 participants

Anticipated

Interventions and Outcome Measures

Arms

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.

Primary outcome measure

  • Extracellular RNA splice variants in biofluids [ Time Frame: 4 years ]

Central Contacts and Locations

Central contacts

Tamkin Shahraki, MD

617-726-7506tshahraki@mgh.harvard.edu

Locations

Massachusetts General Hospital

Recruiting

Boston, Massachusetts, United States, 02129

Contacts

Tamkin Shahraki, MD

617-726-7506tshahraki@mgh.harvard.edu

Principal Investigator:

Thurman M. Wheeler, MD

Beth Israel Deaconess Medical Center

Recruiting

Boston, Massachusetts, United States, 02215

Contacts

Sarah Verga

sverga@bidmc.harvard.edu

Hilda Gutierrez, MD

hgutier1@bidmc.harvard.edu

Principal Investigator:

Seward B. Rutkove, MD

University of Texas Southwestern

Recruiting

Dallas, Texas, United States, 75390

Contacts

Karla Castro

214-456-3696karla.castroochoa@utsouthwestern.edu

Tammy Ramm

214-867-5631tammy.ramm@utsouthwestern.edu

Principal Investigator:

Susan T. Iannaccone, MD

More Information

Sponsor

Massachusetts General Hospital

Last update posted

Nov 24, 2025

Last verified

Nov, 2025

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-09. This information was provided to ClinicalTrials.gov by Massachusetts General Hospital on 2025-11-24.