Metabolomic Biomarkers of Myotonic Dystrophy

November 2, 2026 updated by: Thurman Wheeler, M.D, Massachusetts General Hospital

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 myotonic dystrophy by examining a urine sample and a blood sample, and performing muscle function testing. The information that is gathered from this study may help to evaluate, prevent, diagnose, treat, and improve the understanding of human myotonic dystrophy.

Study Overview

Status

Recruiting

Conditions

Myotonic Dystrophy Type 1

Study Type

Observational

Enrollment (Estimated)

Contacts and Locations

This section provides the contact details for those conducting the study, and information on where this study is being conducted.

Study Contact

Name: Tamkin Shahraki, MD
Phone Number: 617-726-7506
Email: tshahraki@mgh.harvard.edu

Study Locations

United States
- Massachusetts
  - Boston, Massachusetts, United States, 02114
    - Recruiting
    - Massachusetts General Hospital
    - Contact:
      
      Tamkin Shahraki, MD
      
      Phone Number: 617-726-7506
      
      Email: tshahraki@mgh.harvard.edu

Participation Criteria

Researchers look for people who fit a certain description, called eligibility criteria. Some examples of these criteria are a person's general health condition or prior treatments.

Eligibility Criteria

Ages Eligible for Study

14 years and older (Child, Adult, Older Adult)

Accepts Healthy Volunteers

Yes

Genders Eligible for Study

All

Sampling Method

Non-Probability Sample

Study Population

Individuals with myotonic dystrophy Individuals without myotonic dystrophy

Description

Inclusion Criteria:

Individuals with myotonic dystrophy
Individuals without myotonic dystrophy
Ages 14 years and older

Exclusion Criteria:

State of immunosuppression
Coagulopathy
Use of anticoagulants within 60 days prior to blood draw

Study Plan

This section provides details of the study plan, including how the study is designed and what the study is measuring.

How is the study designed?

Design Details

Observational Models: COHORT
Time Perspectives: PROSPECTIVE

Number of groups / cohorts

Cohorts and Interventions

Group / Cohort
Myotonic dystrophy
Unaffected

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Extracellular vesicle metabolite profile Time Frame: Five years	The extracellular vesicle metabolite profile in the myotonic dystrophy group will be evaluated and compared with the extracellular vesicle metabolite profile in the control group. Statistical analysis will be used to evaluate the sensitivity and specificity of these markers as measurements of disease activity and severity.	Five years

Collaborators and Investigators

This is where you will find people and organizations involved with this study.

Sponsor

Massachusetts General Hospital

Publications and helpful links

The person responsible for entering information about the study voluntarily provides these publications. These may be about anything related to the study.

General Publications

Study record dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Major Dates

Study Start (Actual)

October 26, 2026

Primary Completion (Estimated)

August 1, 2030

Study Completion (Estimated)

August 1, 2031

Study Registration Dates

First Submitted

October 27, 2026

First Submitted That Met QC Criteria

November 2, 2026

First Posted (Actual)

November 3, 2026

Study Record Updates

Last Update Posted (Actual)