Trial Review

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Trial details imported from ClinicalTrials.gov

For full trial details, please see the original record at https://clinicaltrials.gov/ct2/show/NCT03981575




Registration number
NCT03981575
Ethics application status
Date submitted
2/06/2019
Date registered
11/06/2019
Date last updated
1/05/2024

Titles & IDs
Public title
Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)
Scientific title
Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)
Secondary ID [1] 0 0
DMCRN
Secondary ID [2] 0 0
HM20014419
Universal Trial Number (UTN)
Trial acronym
Linked study record

Health condition
Health condition(s) or problem(s) studied:
Myotonic Dystrophy 1 0 0
Condition category
Condition code
Musculoskeletal 0 0 0 0
Other muscular and skeletal disorders

Intervention/exposure
Study type
Observational
Patient registry
Target follow-up duration
Target follow-up type
Description of intervention(s) / exposure
Study Visits - Patients will receive standard of care as determined by their treating physician. Study visits occur at baseline/0 months, 12 months, and 24 months
Comparator / control treatment
Control group

Outcomes
Primary outcome [1] 0 0
Change in ambulation over 24 months as measured by the 10 meter walk (m/s).
Timepoint [1] 0 0
12 and 24 months
Primary outcome [2] 0 0
Change in respiratory function over 24 months as measured by spirometry, specifically the supine forced vital capacity (FVC).
Timepoint [2] 0 0
12 and 24 months
Primary outcome [3] 0 0
Percent splicing of DM1-affected splice events
Timepoint [3] 0 0
3 months

Eligibility
Key inclusion criteria
Inclusion 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
Minimum age
18 Years
Maximum age
70 Years
Sex
Both males and females
Can healthy volunteers participate?
No
Key exclusion criteria
Exclusion criteria:

- 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.

Inclusion criteria for participants in the muscle biopsy sub-study:

• Of the 95 patients undergoing the tibialis anterior muscle biopsy, at least half will
have at least moderate weakness of ankle dorsiflexion, defined as MRC score = 4+. This is
in order to obtain a muscle tissue sample in a person more severely affected with myotonic
dystrophy. Approximately 10 patients at each site will undergo the muscle biopsy.

Exclusion criteria for 95 participants in the muscle biopsy sub-study:

- 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.

Study design
Purpose
Duration
Selection
Timing
Statistical methods / analysis

Recruitment
Recruitment status
Recruiting
Data analysis
Reason for early stopping/withdrawal
Other reasons
Date of first participant enrolment
Anticipated
Actual
1/01/2019
Date of last participant enrolment
Anticipated
Actual
Date of last data collection
Anticipated
1/12/2026
Actual
Sample size
Target
700
Accrual to date
Final
Recruitment in Australia
Recruitment state(s)
Recruitment outside Australia
Country [1] 0 0
United States of America
State/province [1] 0 0
California
Country [2] 0 0
United States of America
State/province [2] 0 0
Colorado
Country [3] 0 0
United States of America
State/province [3] 0 0
Florida
Country [4] 0 0
United States of America
State/province [4] 0 0
Iowa
Country [5] 0 0
United States of America
State/province [5] 0 0
Kansas
Country [6] 0 0
United States of America
State/province [6] 0 0
Maryland
Country [7] 0 0
United States of America
State/province [7] 0 0
New York
Country [8] 0 0
United States of America
State/province [8] 0 0
Ohio
Country [9] 0 0
United States of America
State/province [9] 0 0
Texas
Country [10] 0 0
United States of America
State/province [10] 0 0
Virginia
Country [11] 0 0
Canada
State/province [11] 0 0
Québec
Country [12] 0 0
France
State/province [12] 0 0
Paris
Country [13] 0 0
Germany
State/province [13] 0 0
München
Country [14] 0 0
Italy
State/province [14] 0 0
Milan
Country [15] 0 0
Netherlands
State/province [15] 0 0
Nijmegen
Country [16] 0 0
New Zealand
State/province [16] 0 0
Auckland
Country [17] 0 0
United Kingdom
State/province [17] 0 0
London

Funding & Sponsors
Primary sponsor type
Other
Name
Virginia Commonwealth University
Address
Country
Other collaborator category [1] 0 0
Other
Name [1] 0 0
University of Rochester
Address [1] 0 0
Country [1] 0 0
Other collaborator category [2] 0 0
Other
Name [2] 0 0
The Methodist Hospital Research Institute
Address [2] 0 0
Country [2] 0 0
Other collaborator category [3] 0 0
Other
Name [3] 0 0
University of Kansas
Address [3] 0 0
Country [3] 0 0
Other collaborator category [4] 0 0
Other
Name [4] 0 0
Stanford University
Address [4] 0 0
Country [4] 0 0
Other collaborator category [5] 0 0
Other
Name [5] 0 0
Ohio State University
Address [5] 0 0
Country [5] 0 0
Other collaborator category [6] 0 0
Other
Name [6] 0 0
University of Florida
Address [6] 0 0
Country [6] 0 0
Other collaborator category [7] 0 0
Other
Name [7] 0 0
University of Iowa
Address [7] 0 0
Country [7] 0 0
Other collaborator category [8] 0 0
Other
Name [8] 0 0
University of California, Los Angeles
Address [8] 0 0
Country [8] 0 0
Other collaborator category [9] 0 0
Other
Name [9] 0 0
Ludwig-Maximilians - University of Munich
Address [9] 0 0
Country [9] 0 0
Other collaborator category [10] 0 0
Other
Name [10] 0 0
Fondazione Serena Onlus - Centro Clinico NeMO Milano
Address [10] 0 0
Country [10] 0 0
Other collaborator category [11] 0 0
Other
Name [11] 0 0
University College, London
Address [11] 0 0
Country [11] 0 0
Other collaborator category [12] 0 0
Other
Name [12] 0 0
Radboud University Medical Center
Address [12] 0 0
Country [12] 0 0

Ethics approval
Ethics application status

Summary
Brief summary
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
Trial website
https://clinicaltrials.gov/ct2/show/NCT03981575
Trial related presentations / publications
Public notes

Contacts
Principal investigator
Name 0 0
Nicholas Johnson, MD
Address 0 0
Virginia Commonwealth University
Country 0 0
Phone 0 0
Fax 0 0
Email 0 0
Contact person for public queries
Name 0 0
Jennifer Raymond
Address 0 0
Country 0 0
Phone 0 0
804-828-6318
Fax 0 0
Email 0 0
jennifer.raymond@vcuhealth.org
Contact person for scientific queries



Summary Results

For IPD and results data, please see https://clinicaltrials.gov/ct2/show/NCT03981575