Myotonic Dystrophy
Conditions
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.
Interventions
None listed
Sponsors
Beth Israel Deaconess Medical Center
University of Texas
Brigham and Women's Hospital
Massachusetts General Hospital
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
5 Years to No maximum
Healthy volunteers
Yes
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.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Extracellular RNA splice variants in biofluids | 4 years | The extracellular RNA biomarkers in the muscular dystrophy groups will be evaluated and compared with the extracellular RNA content in control groups. Statistical analysis will be used to evaluate the sensitivity and specificity of these markers as measurements of disease activity and severity. |
Countries
United States
Contacts
Primary ContactTamkin Shahraki, MD
Outcome results
None listed