Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2

Description

Nearly two-third of patients with myotonic dystrophy type 2 (DM2) report that impaired cognition is among the most disabling symptoms and deeply affects their quality of life. Yet, relatively little is known about how DM2 affects brain structure and cognitive function as brain imaging studies in DM2 are extremely limited. This is a prospective, cross-sectional study of brain structure and function on cognitive and motor performance in patients with DM2 compared to healthy controls. All participants will undergo magnetic resonance imaging (MRI) to evaluate brain structure and white matter integrity, a comprehensive battery of cognitive and motor measures, self-reported questionnaires, and blood collection for brain-based biomarker analysis. A subset of participants will undergo lumbar puncture for cerebrospinal fluid (CSF) collection for additional biomarker analysis and validation. This work is critical to inform the development of rigorous clinical trial designs and plan for a longitudinal study to evaluate MRI measures as imaging biomarkers of disease progression and therapeutic response in DM2.

Conditions

Myotonic Dystrophy Type 2

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Study Overview

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Study Details

Study overview

Nearly two-third of patients with myotonic dystrophy type 2 (DM2) report that impaired cognition is among the most disabling symptoms and deeply affects their quality of life. Yet, relatively little is known about how DM2 affects brain structure and cognitive function as brain imaging studies in DM2 are extremely limited. This is a prospective, cross-sectional study of brain structure and function on cognitive and motor performance in patients with DM2 compared to healthy controls. All participants will undergo magnetic resonance imaging (MRI) to evaluate brain structure and white matter integrity, a comprehensive battery of cognitive and motor measures, self-reported questionnaires, and blood collection for brain-based biomarker analysis. A subset of participants will undergo lumbar puncture for cerebrospinal fluid (CSF) collection for additional biomarker analysis and validation. This work is critical to inform the development of rigorous clinical trial designs and plan for a longitudinal study to evaluate MRI measures as imaging biomarkers of disease progression and therapeutic response in DM2.

Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2 (BraCE-DM2)

Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2

Condition
Myotonic Dystrophy Type 2
Intervention / Treatment

-

Contacts and Locations

Winston-Salem

Wake Forest University Health Sciences, Winston-Salem, North Carolina, United States, 27157

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.

For general information about clinical research, read Learn About Studies.

Eligibility Criteria

  • * Age 40 and older
  • * Diagnosis of DM2 is based on genetic testing and/or clinical criteria. If the diagnosis is based on clinical criteria, positive DM2 genetic testing is required in first-degree relatives
  • * Symptoms or clinical findings of proximal muscle weakness
  • * Ambulate independently (a cane or walking stick is permitted)
  • * Able to provide informed consent for participation in the study
  • * Individuals with a pacemaker, defibrillator, or metal implanted that is contraindicated for MRI
  • * Individuals who are claustrophobic
  • * Individuals with a prior diagnosis of dementia, seizure, stroke, multiple sclerosis, Parkinson's Disease, or other neurodegenerative diseases
  • * Individuals with active psychiatric illness, alcohol or substance abuse, or dependence
  • * Individuals with a pacemaker, defibrillator, or metal implanted that is contraindicated for MRI
  • * Individuals who are claustrophobic
  • * Major medical illness which would prevent safe testing of MRI or motor function.
  • * On medications with substantial sedative or cognitive side effects unless the doses have been stable over the last 3 months before the study visit
  • * pregnancy
  • * Weight \> 400 lbs as the subject could not be properly positioned on the MRI table
  • * Inability or unwillingness to give written informed consent
  • * For participants who undergo lumbar puncture procedure: Use of anti-platelet medications within 7 days, use of anticoagulants such as warfarin (Coumadin), history of a bleeding disorders, evidence of platelet count \< 150,000 within the last 6 months, or have hardware (i.e., pins, screws, rods, etc.) in the lower back area

Ages Eligible for Study

40 Years to

Sexes Eligible for Study

ALL

Accepts Healthy Volunteers

Yes

Collaborators and Investigators

Wake Forest University Health Sciences,

Araya Puwanant, MD, MS, PRINCIPAL_INVESTIGATOR, Wake Forest University Health Sciences

Study Record Dates

2027-06