Examining cerebrospinal fluid in myotonic dystrophy

Is this trial a fit for you?

A plain-English reading of the study's rules. Only the study team can confirm whether you qualify.

What this trial studies

This observational study aims to investigate the relationship between cerebrospinal fluid (CSF) biomarkers and brain activity in individuals with Myotonic Dystrophy Type 1. Participants will undergo low-risk tests to analyze changes in CSF composition, which may provide insights into the neurological aspects of the condition. The study includes both affected individuals and healthy controls to better understand the disease's impact on brain function. The findings could enhance the evaluation, prevention, diagnosis, and treatment of myotonic dystrophy.

Why it matters

Who can join: the full rules

Inclusion Criteria:

* Subjects with DM1 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).
* Unaffected subjects are unknown to have myotonic dystropphy or any other muscular dystrophy by history and may have had no genetic testing.
* Clinical indicators of current status, as measured within 30 days of study start: Able to provide informed consent or assent for participation in the study.
* Demographic characteristics (e.g., biologic sex, age): Males and females age 18 years and older.

Exclusion Criteria:

* Medical history of any of the following. State of immunosuppression; pre-existing liver or kidney disease; documented HIV positive; documented hepatitis B and/or C positive.
* Medications and other drugs. Use of anticoagulants within 60 days prior to lumbar puncture and/or blood draw. Use of anti-platelet drugs within 7 days prior to blood draw.
* Contraindications to MRI. The presence of any metal within the body, which would include any medical device containing metal, such as a pacemaker, defibrillator, some heart valves or stents, artificial joint, aneurysm clip, or inner ear device, a history of working with sheet metal, or an injury with metal shrapnel; pregnancy, due to effects of MRI on unborn children.
* Contraindications to Lumbar Puncture. Evidence of increased intracranial pressure or active infection on exam; platelets less than 50,000.
* Other. Inability or unwillingness of the subject to give written informed consent.

Where it's running

• Massachusetts General Hospital
  Boston, Massachusetts, United States Recruiting

Study contacts

• Principal investigator: Thurman M Wheeler, MD — Massachusetts General Hospital
• Study coordinator: Tamkin Shahraki, MD
• Email: tshahraki@mgh.harvard.edu
• Phone: 617-726-7506

Similar studies

Other studies for the same condition or treatment. Recruiting studies are listed first.

• Understanding long-term progression in myotonic dystrophy type 1 (DM1)

  This study will follow adults with DM1 for at least four years to see how walking, hand function, muscle strength, heart rhythms, and lung function change over time.

  Recruiting Virginia Commonwealth University · Richmond, Virginia · NCT07700225

• Metabolomic biomarkers for myotonic dystrophy

  This study tests whether urine and blood tests, along with muscle function tests, can detect and measure myotonic dystrophy activity and severity without relying on muscle biopsies.

  Recruiting Massachusetts General Hospital · Boston, Massachusetts · NCT07912983

• Remote Assessments and Genetic Factors in Congenital and Childhood DM1

  This study tests how congenital, childhood, and juvenile DM1 affect kids by doing remote visits, activities, and a small blood sample to explore symptoms and genetics.

  Recruiting University of Rochester · Rochester, New York · NCT07630389

• Spanish National Registry for Myotonic Dystrophy Type 1

  This registry gathers health, clinical, and genetic information from people in Spain with DM1 to see how the condition changes over time and help match patients to future trials.

  Recruiting at 8 sites Fundació Institut Germans Trias i Pujol · Multiple Locations, Andalusia and 7 other locations · NCT07385443

• Pelvic floor muscle training for women with myotonic dystrophy

  This study is testing if pelvic floor muscle training can help women with myotonic dystrophy who have trouble with urinary incontinence feel better.

  Recruiting Université de Sherbrooke · Jonquière, Quebec · NCT06316778

• Registry for Myotonic Dystrophy and Facioscapulohumeral Muscular Dystrophy

  This study is creating a registry for people with myotonic dystrophy or facioscapulohumeral muscular dystrophy to share their health information and connect with researchers working to learn more about these conditions.

  Recruiting University of Rochester · Rochester, New York · NCT00082108

How to take part

1. Review the eligibility criteria above with your treating physician.
2. Check the official listing on ClinicalTrials.gov for the latest contact details and recruitment status.
3. Contact the study coordinator or principal investigator to ask for pre-screening. Pre-screening is free and never obligates you to enroll.