Establishing biomarkers and clinical endpoints in myotonic dystrophy type 1 (END-DM1)

Recruiting

• Conditions: DM1; Steinerts disease; 10029299

• Registration Number: NL-OMON50021
• Lead Sponsor: Radboud Universitair Medisch Centrum

Brief Summary

Not available

Detailed Description

Not available

Study Timeline

• Last Update Posted: 18 June 2024

Recruitment & Eligibility

• Status: Recruiting
• Sex: Not specified
• Target Recruitment: 20

Inclusion Criteria

- Age 18 to 70 years (inclusive)
- Competent to provide informed consent
- Clinical diagnosis of DM1 based on research criteria or positive genetic test

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, pr 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
- Use of mexiletine or other anti-myotonia agents within 72 hours of baseline
visit
Note: non-ambulatory participants are not excluded but are limited to <15% of
enrollment

Study & Design

• Study Type: Observational non invasive
• Study Design: Not specified

Primary Outcome Measures

Name	Time	Method
<p>- Characterize baseline status and disease progression over two years in 700<br /><br>DM1 patients with myotonic dystrophy type 1 (DM1).</p><br>

Secondary Outcome Measures

Name	Time	Method
<p>Optimize sample collection and analysis procedures for use of muscle RNA<br /><br>alternative splice events as biomarkers of DM1 severity </p><br>