RecruitingOBSERVATIONAL

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

The END-DM1 study is looking at Myotonic Dystrophy Type 1 (DM1) in adults to get a clearer picture of how the condition affects people. Researchers want to find more reliable ways to track the disease and understand its different forms. They will gather health information and samples from a large group of people with DM1. This study doesn't involve any new treatments; participants will continue with their usual care. By improving our understanding of DM1, this research hopes to pave the way for better future treatments. It's funded by the US Food and Drug Administration (FDA) to help find new therapies for rare diseases.

At a glance

Status

Recruiting

Sponsor

Virginia Commonwealth University

Enrolment target

700

Start

01 Jan 2019

Estimated completion

01 Dec 2026

Myotonic Dystrophy 1 DM1

What is this study about?

This study, called END-DM1, is all about Myotonic Dystrophy Type 1 (DM1). DM1 is a long-term condition that affects muscles and other parts of the body. Right now, doctors and researchers don't have enough information about how DM1 changes over time, and it's hard to measure how well someone is doing or how the disease is progressing. This makes it difficult to test new treatments.

The main goal of END-DM1 is to fix these problems. Researchers want to find better ways to track DM1, including ways to measure changes in the body that can tell us more about the disease (these are called 'biomarkers'). They also want to understand why DM1 affects people so differently. The study will collect lots of information and samples from people with DM1 to help achieve these goals. This information is key to developing new and effective treatments in the future.

It's important to know that this study isn't testing any new medicines. Participants will continue to receive their standard medical care, just as they normally would. The focus is purely on gathering information to learn more about the condition itself, which is a vital first step towards finding better ways to manage and treat DM1. The study is supported by the FDA, which is a US government agency that helps protect public health through the safety and effectiveness of medicines and other products.

Key takeaways

The study aims to improve understanding of Myotonic Dystrophy Type 1 (DM1).
It will help find better ways to measure DM1 progression and its varying effects.
Participants will continue their usual medical care; no new treatments are given.
The main study involves three visits over a two-year period.
Optional sub-studies may include muscle biopsies or activity monitoring.
Your involvement helps pave the way for future DM1 treatments.

Who may be eligible?

To join this main study, you need to be an adult between 18 and 70 years old, including both ages. You must have a confirmed diagnosis of DM1, either by a doctor using specific criteria, or through a genetic test. It's also important that you can understand the study details and agree to take part.

There are some reasons why you might not be able to join. These include having certain serious health problems like kidney or liver disease, uncontrolled diabetes, or particular cancers (other than skin cancer). If you're currently abusing alcohol or drugs, are pregnant or planning to become pregnant during the study, or are already in another DM1 treatment trial (or have been in one within the last 6 months), you wouldn't be able to participate. Also, if there's any other medical condition that your doctor believes would affect your ability to take part in the study's assessments, you might not be eligible.

For some smaller parts of the study, like the muscle biopsy studies, there are extra rules. For example, some people chosen for a muscle biopsy might need to have a certain level of muscle weakness, and people taking blood thinners like warfarin usually can't have a biopsy due to a higher risk of bleeding.

Quick self-check

Are you between 18 and 70 years old?
Do you have a confirmed diagnosis of Myotonic Dystrophy Type 1 (DM1)?
Can you understand and agree to participate in the study?
Are you free from serious kidney or liver disease, uncontrolled diabetes, or active cancer (not skin cancer)?
Are you not currently pregnant or planning to become pregnant during the study?
Are you not currently involved in another DM1 treatment study or have been in one in the last 6 months?

This is a guide only — the research team will confirm whether you can take part.

What does participation involve?

If you decide to take part in the main study, you'll have three study visits: one at the beginning, one after 12 months, and a final one after 24 months. These visits will involve various assessments and data collection, but you won't receive any new treatments; you'll continue with your usual medical care. The entire study participation for the main group will last for two years.

There are also some smaller, optional parts of the study. For example, a small number of participants will be asked to have a muscle biopsy, which involves an extra visit at 3 months. Even fewer might be asked to have a second biopsy years later. Other optional parts might involve completing a survey about COVID-19, wearing a small device to track your physical activity for 7 days, or having additional strength tests. If you volunteer for these optional sub-studies, it would involve a bit more time or extra visits.

Potential risks and benefits

Participating in this study will not directly benefit your health, as it doesn't involve any new treatments. However, your involvement will be very valuable to researchers, helping them to better understand DM1. This understanding is crucial for developing future treatments that could benefit many people with DM1. Potential risks of participating include the time commitment, discomfort from blood tests or potential muscle biopsies, and the chance of mild side effects from these procedures, such as bruising. Your personal information will be kept private. Remember, you have the right to withdraw from the study at any time, for any reason, without it affecting your medical care.

Locations (17)

University of California, San Diego
La Jolla, United States· Recruiting
University of California, Los Angeles
Los Angeles, United States· Recruiting
University of Colorado - Denver
Denver, United States· Recruiting
University of Florida
Gainesville, United States· Recruiting
University of Iowa
Iowa City, United States· Recruiting
Kansas University Medical Center
Kansas City, United States· Recruiting
University of Rochester
Rochester, United States· Recruiting
Ohio State University
Columbus, United States· Recruiting
Houston Methodist Neurological Institute
Houston, United States· Recruiting
Virginia Commonwealth University
Richmond, United States· Recruiting
Université de Sherbrooke
Québec, Canada· Active not recruiting
Friedrich Baur Institute, Ludwig-Maximilians-Universität München
München, Germany· Recruiting

+5 more sites — see the official record for the full list.

Common questions

What is the main goal of this study?

The main goal is to understand Myotonic Dystrophy Type 1 (DM1) better, so researchers can find improved ways to measure the disease and develop new treatments.

Will I receive new medicine or treatment in this study?

No, this study does not involve new treatments. You will continue to receive your usual medical care.

How long will I be in the study if I participate?

If you join the main study, you will have three study visits and your participation will last for two years.

Are there any extra tests I might be asked to do?

Yes, some people might be asked to have a muscle biopsy, wear an activity tracker, or complete a COVID-19 survey, but these are optional.

Who is funding this research?

This study is funded by the US Food and Drug Administration (FDA) through its Office of Orphan Products Development (OOPD), which supports research for rare diseases.

How to find out more

Jennifer Raymond

jennifer.raymond@vcuhealth.org 804-828-6318 Official trial record

Always speak to your GP or specialist before deciding to take part in a study.