Extracellular RNA Biomarkers of Myotonic Dystrophy

Status: Recruiting
Location: See all (3) locations...
Study Type: Observational
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.

Eligibility
Participation Requirements
Sex: All
Minimum Age: 5
Healthy Volunteers: t
View:

• 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.

Locations
United States
Massachusetts
Beth Israel Deaconess Medical Center
RECRUITING
Boston
Massachusetts General Hospital
RECRUITING
Boston
Texas
University of Texas Southwestern
RECRUITING
Dallas
Contact Information
Primary
Tamkin Shahraki, MD
tshahraki@mgh.harvard.edu
617-726-7506
Time Frame
Start Date: 2020-12-08
Estimated Completion Date: 2025-12
Participants
Target number of participants: 215
Treatments
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.
Sponsors
Collaborators: Brigham and Women's Hospital, University of Texas, Beth Israel Deaconess Medical Center
Leads: Massachusetts General Hospital

This content was sourced from clinicaltrials.gov