RECRUITING

Estab Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)

Conditions

Myotonic Dystrophy 1 DM1 Myotonic Dystrophy END DM-1 Muscular Dystophy DMCRN

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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

Building on previous work of the Myotonic Dystrophy Clinical Research Network (DMCRN), the present study seeks to overcome insufficient data on natural history; lack of reliable biomarkers; and incomplete characterization and limited biological understanding of the phenotypic heterogeneity of Myotonic Dystrophy 1 by examining strategies to improve the reliability by making further refinements in our sample collection and analysis procedures by developing strategies for managing patient heterogeneity going forward. Funding Source- FDA OOPD

Official Title

Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)

Quick Facts

Study Start:2019-01-01

Study Completion:2026-12-01

Study Type:Not specified

Phase:Not Applicable

Enrollment:Not specified

Status:RECRUITING

Study ID

NCT03981575

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:18 Years to 70 Years

Sexes Eligible for Study:ALL

Accepts Healthy Volunteers:No

Standard Ages:ADULT, OLDER_ADULT

Inclusion Criteria	Exclusion Criteria
* Age 18 to 70 (inclusive) * Competent to provide informed consent * Clinical diagnosis of DM1 based on research criteria1 or positive genetic test * Comment: The clinical research criteria require myotonia, muscle weakness in a characteristic distribution, and history of similar findings in a first degree relative. Genetic testing confirmed the diagnosis of DM1 in \> 99% of individuals who satisfied these criteria.2	* Symptomatic renal or liver disease, uncontrolled diabetes or thyroid disorder, or active malignancy other than skin cancer. * Current alcohol or substance abuse * Concurrent enrollment in clinical trial for DM1, or participation in trial within 6 months of entry. * Concurrent pregnancy or planned pregnancy during the course of the study. * Concurrent medical condition that would, in the opinion of the investigator or clinical evaluator, compromise performance on study measures. * Note: non-ambulatory participants are not excluded, but are limited to \<15% of enrollment. * Known CTG repeat expansion size less than 100 repeats, unless there are clear cut signs of limb weakness and muscle wasting. This is in order to obtain a muscle tissue sample in a person more severely affected with myotonic dystrophy. * Use of anticoagulant such as warfarin or a direct oral anticoagulant (e.g. dabigatran) due to the increased risk of bleeding. * Use of aspirin or non-steroidal anti-inflammatory agents should be discontinued 3 days prior to the biopsy procedure, if possible. * Platelet count \<50,000 (if known) due to the increased risk of bleeding. * History of a bleeding disorder due to the increased risk of bleeding. * Advanced wasting of tibialis anterior (TA) muscle that precludes needle muscle biopsy in order to ensure that a sample taken would be of muscle and not just fat and fascia. * Previous muscle biopsy of either TA in order to provide muscle tissue samples of non-biopsied muscles.

Inclusion Criteria

Exclusion Criteria

* Age 18 to 70 (inclusive)
* Competent to provide informed consent
* Clinical diagnosis of DM1 based on research criteria1 or positive genetic test
* Comment: The clinical research criteria require myotonia, muscle weakness in a characteristic distribution, and history of similar findings in a first degree relative. Genetic testing confirmed the diagnosis of DM1 in \> 99% of individuals who satisfied these criteria.2

* Symptomatic renal or liver disease, uncontrolled diabetes or thyroid disorder, or active malignancy other than skin cancer.
* Current alcohol or substance abuse
* Concurrent enrollment in clinical trial for DM1, or participation in trial within 6 months of entry.
* Concurrent pregnancy or planned pregnancy during the course of the study.
* Concurrent medical condition that would, in the opinion of the investigator or clinical evaluator, compromise performance on study measures.
* Note: non-ambulatory participants are not excluded, but are limited to \<15% of enrollment.
* Known CTG repeat expansion size less than 100 repeats, unless there are clear cut signs of limb weakness and muscle wasting. This is in order to obtain a muscle tissue sample in a person more severely affected with myotonic dystrophy.
* Use of anticoagulant such as warfarin or a direct oral anticoagulant (e.g. dabigatran) due to the increased risk of bleeding.
* Use of aspirin or non-steroidal anti-inflammatory agents should be discontinued 3 days prior to the biopsy procedure, if possible.
* Platelet count \<50,000 (if known) due to the increased risk of bleeding.
* History of a bleeding disorder due to the increased risk of bleeding.
* Advanced wasting of tibialis anterior (TA) muscle that precludes needle muscle biopsy in order to ensure that a sample taken would be of muscle and not just fat and fascia.
* Previous muscle biopsy of either TA in order to provide muscle tissue samples of non-biopsied muscles.

Contacts and Locations

Study Contact

Jennifer Raymond

CONTACT

804-828-6318

jennifer.raymond@vcuhealth.org

Ruby Langeslay

CONTACT

804-828-8481

ruby.langeslay@vcuhealth.org

Principal Investigator

Nicholas Johnson, MD

PRINCIPAL_INVESTIGATOR

Virginia Commonwealth University

Charles Thornton, MD

PRINCIPAL_INVESTIGATOR

University of Rochester

Study Locations (Sites)

University of California, San Diego

La Jolla, California, 92703

United States

University of California, Los Angeles

Los Angeles, California, 90095

United States

Stanford University

Stanford, California, 94305

United States

University of Colorado - Denver

Denver, Colorado, 80204

United States

University of Florida

Gainesville, Florida, 32611

United States

University of Iowa

Iowa City, Iowa, 52242

United States

Kansas University Medical Center

Kansas City, Kansas, 66160

United States

University of Rochester

Rochester, New York, 14642

United States

Ohio State University

Columbus, Ohio, 43210

United States

Houston Methodist Neurological Institute

Houston, Texas, 77030

United States

Virginia Commonwealth University

Richmond, Virginia, 23298

United States

Collaborators and Investigators

Sponsor: Virginia Commonwealth University

Nicholas Johnson, MD, PRINCIPAL_INVESTIGATOR, Virginia Commonwealth University
Charles Thornton, MD, PRINCIPAL_INVESTIGATOR, University of Rochester

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 Date2019-01-01

Study Completion Date2026-12-01

Study Record Updates

Study Start Date2019-01-01

Study Completion Date2026-12-01

Terms related to this study

Keywords Provided by Researchers

Myotonic Dystrophy
END DM-1
Muscular Dystophy
DMCRN

Additional Relevant MeSH Terms

Myotonic Dystrophy 1
DM1