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

Launched by VIRGINIA COMMONWEALTH UNIVERSITY · Jun 7, 2019

Keywords

ClinConnect Summary

The clinical trial titled "Estab Biomarkers and Clinical Endpoints in Myotonic Dystrophy Type 1 (END-DM1)" is investigating myotonic dystrophy type 1 (DM1), a genetic condition that affects muscle function. The goal of this study is to gather more information about how this disease progresses, identify reliable biological markers that can help in diagnosis and treatment, and understand the different ways the disease can affect individuals. This research builds on earlier studies and aims to improve how samples are collected and analyzed, which could lead to better management of DM1 in the future.

To participate in the trial, individuals must be between 18 and 70 years old and have a confirmed diagnosis of DM1, either through clinical signs or genetic testing. Participants will not be eligible if they have certain medical conditions, such as severe kidney or liver disease, or if they are currently pregnant. Those who join the study may be asked to contribute to a muscle biopsy, which involves taking a small sample of muscle tissue for further study, especially from patients who have noticeable muscle weakness. Participants will help researchers better understand DM1, which could lead to new treatment options in the future.

Gender

ALL

Eligibility 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
• 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.