RECRUITING

Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2

Study Overview

This clinical trial focuses on testing the efficacy of different digital interventions to promote re-engagement in cancer-related long-term follow-up care for adolescent and young adult (AYA) survivors of childhood cancer.

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 \& DM1 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 \& DM1.

Official Title

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

Quick Facts

Study Start:2023-04-26
Study Completion:2027-06
Study Type:Not specified
Phase:Not Applicable
Enrollment:Not specified
Status:RECRUITING

Study ID

NCT05854433

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.

Ages Eligible for Study:40 Years
Sexes Eligible for Study:ALL
Accepts Healthy Volunteers:Yes
Standard Ages:ADULT, OLDER_ADULT
Inclusion CriteriaExclusion Criteria
  1. * Age 40 and older
  2. * Diagnosis of DM1 or 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
  3. * Symptoms or clinical findings of proximal muscle weakness
  4. * Ambulate independently (a cane or walking stick is permitted)
  5. * Able to provide informed consent for participation in the study
  1. * Congenital or juvenile-onset DM1 (onset of first symptom \< 20-year-old)
  2. * Individuals with a prior diagnosis of dementia, seizure, stroke, multiple sclerosis, Parkinson's Disease, or other neurodegenerative diseases
  3. * Individuals with active psychiatric illness or alcohol/substance abuse.
  4. * On medications with substantial sedative or cognitive side effects unless the doses have been stable for at least 3 months before the study visit.
  5. * Inability or unwillingness to give written informed consent.

Contacts and Locations

Study Contact

Constance Linville
CONTACT
336-716-4568
clinvill@wakehealth.edu

Principal Investigator

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

Study Locations (Sites)

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

Collaborators and Investigators

Sponsor: Wake Forest University Health Sciences

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

Study Record Dates

These dates track the progress of study record and summary results submissions to ClinicalTrials.gov. Study records and reported results are reviewed by the National Library of Medicine (NLM) to make sure they meet specific quality control standards before being posted on the public website.

Study Registration Dates

Study Start Date2023-04-26
Study Completion Date2027-06

Study Record Updates

Study Start Date2023-04-26
Study Completion Date2027-06

Terms related to this study

Keywords Provided by Researchers

  • myotonic dystrophy
  • muscular dystrophy
  • cognitive dysfunction
  • memory
  • brain
  • central nervous system
  • MRI
  • biomarkers
  • white matter
  • neurodegenerative diseases

Additional Relevant MeSH Terms

  • Myotonic Dystrophy Type 2
  • Myotonic Dystrophy Type 1