Note: This study is currently only recruiting patients in the hospital.

If you are interested in being notified if this study begins recruiting from the general population, please use the 'I Am Interested' button below.

Monitoring myotonic dystrophy using cerebrospinal fluid

We are seeking participants to help develop ways of measuring myotonic dystrophy disease progression using samples of cerebrospinal fluid.

Massachusetts General Hospital Muscular Dystrophy
6 hours over 3 visits
Estimated Time Commitment
Male, Female, 18-years or older
May Be Eligible
Payment up to $400
May Be Offered
MRI scan, Blood draw, Biosample (e.g., saliva, urine, or stool)
May Be Required
 
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This project is not recruiting.

Overview

What we are studying

Myotonic dystrophy type 1 (DM1) causes progressive muscle weakness and wasting as well as cognitive dysfunction. It is the most common muscular dystrophy in adults and affects betwewen 1 in 3,000 and 8,000 people worldwide. There is currently no cure, but there are many treatments being studied to slow or improve symptoms. We recently found that urine from DM1 patients contains small vesicles with DNA that can tell us how severe the disease is.


Why it is important

There is a need for easier ways to measure disease activity, which is important in developing drug therapies. The current method involves removing muscle tissue, which is time consuming, invasive, and expensive to perform. Our goal is to identify particles in patient urine and cerebrospinal fluid (CSF) that can tell us about the disease. These fluids would be easier to get from patients than muscle biopsies and help develop treatments.


What we hope to accomplish

We will collect samples of CSF from patients through a lumbar puncture, which is a low risk procedure. Participants will be numbed with local anesthesia and a needle will be inserted into the lower back to collect about 5-15 mL of CSF. Urine samples will also be collected. To measure the involvement of the central nervous system (CNS), we will perform a brain MRI and do an optional cognitive test that can be done on an iPad. This will take between 4-6 hours total over three visits to MGH.

Principal Investigator

Thurman Wheeler, MD

Massachusetts General Hospital

Public Profile

Who can participate

Males and females ages 18 years and older will be studied. We are recruiting people with diagnosed myotonic dystrophy 1 (DM1) and healthy volunteers. 


Healthy Volunteers

Healthy volunteers are eligible for this study

Who cannot participate

People with medical history of any of the following are not elibile: immunosuppression, pre-existing liver or kidney disease, documented HIV positive, documented hepatitis B and/or C positive. Participants cannot have used anticoagulants within 60 days of lumbar puncture. Because we will be using MRI, participants cannot have any metal within the body which could include any medical device containing metal.

What you may be asked to do

Participants will be asked to provide urine and blood samples, undergo a lumbar puncture and MRI scan, and complete some questionnaires and cognition tests.


Project activities may include:

  • MRI scan
  • Blood draw
  • Biosample (e.g., saliva, urine, or stool)

Estimated Time Commitment

6 hours over 3 visits

What You May Get

Participants will be paid $100 for completion of a brain MRI, $100 for completion of a lumbar puncture, $50 for cognitive assessment and questionnaires, and $75 for completion of each dedicated study visit as compensation for parking, transportation, and meals.

Location

Massachusetts General Hospital
Building 149, 13th Street. Charlestown Navy Yard.

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Travel

  • Accessible by public transportation
  • Parking available
  • Parking reimbursed
  • Local travel reimbursed

Travel and Parking Details

Additional Information

Participating Institutions


Funding Source

  • Department
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