Protocol Summary

Protocol No.: OCR17053

Sponsor Protocol No.: END-DM1

Protocol Title.: Establishing Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)

Principal Investigator: Subramony, Sankarasubramoney

Objective: 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.

Description: Approximately 700 adult participants (18 to 70 years old, inclusive) with DM1 will be enrolled at 15 centers (up to 70 patients will be recruited at each site). No treatment will be administered as part of this study. Participants will receive standard of care as determined by the investigators. Study visits occur at baseline/0 months, 12 months, and 24 months. Few restrictions are placed on participation in the study because the investigators aim to capture the full spectrum of disease severity. Studies of splicing biomarkers in muscle biopsy samples will be conducted on a subset of 95 participants. These participants will have an additional study visit at 3 months.

Phase: N/A

Age Group: Adult

Age: 18 Years - 70 Years

Gender: All

Scope: National

Treatment:

: 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

Detailed Eligibility:

DM1 has a prevalence rate of approximately 1 per 2,300. There are no expected gender differences. Both men and women will be selected for this study. Children with DM1 are not included in this project because the pathophysiological basis of congenital and childhood DM1 appears to be mechanistically distinct.

Applicable Conditions:

  • Myotonic Dystrophy
  • Participation Institution:

  • UF Gainesville
  • UF Jacksonville
  • More Information: View study listing on ClinicialTrials.gov http://www.clinicaltrials.gov/ct2/show/NCT03981575