Neurology · Myotonic Dystrophy Type 1

Are There New Treatments for Myotonic Dystrophy Type 1?

At a Glance

Several new disease-modifying treatments for myotonic dystrophy type 1 (DM1) are currently in Phase 1 and 2 clinical trials. Unlike older therapies that only manage symptoms, these new drugs use targeted technology to destroy the toxic RNA causing the disease, aiming to halt or slow progression.

In this answer

4 sections

Targeting the Root Cause: Toxic RNA and Trapped Proteins

Disease-Modifying Therapies in Clinical Trials

Looking to the Future: Gene Editing

How to Find and Participate in Clinical Trials

Yes, there are several new disease-modifying treatments currently being researched and tested in clinical trials for myotonic dystrophy type 1 (DM1) ^[1]^[2]. Unlike older treatments that only manage symptoms, these new therapies are designed to target the genetic root cause of the disease ^[3]^[4].

Many of these drugs are currently in Phase 1 (focused on finding a safe dose) and Phase 2 (exploring early signs of effectiveness and continuing to monitor safety) clinical trials ^[1]^[5]. This represents a major shift from laboratory research to active human testing. However, it is important to know that the clinical trial process takes years; drugs in Phase 1 or Phase 2 are still in the early stages and are not yet close to being available at a local pharmacy.

Targeting the Root Cause: Toxic RNA and Trapped Proteins

To understand how new treatments work, it helps to understand what causes DM1. The genetic mutation in DM1 causes cells to produce an abnormal, “toxic” form of RNA ^[3]. This toxic RNA clumps up inside the cell and traps an important group of proteins called MBNL proteins ^[6]^[7]. Normally, MBNL proteins help the cell process other genetic instructions properly. When they are trapped, the muscle cells cannot function correctly, leading to the symptoms of DM1 ^[3]^[8].

Most new therapies aim to destroy this toxic RNA, which in turn frees the trapped MBNL proteins ^[3]^[4]. Researchers hope this will allow the cells to work normally again. Note: As a patient, you may wonder if this will reverse existing muscle damage or simply stop the disease from getting worse. At this stage, it is still unknown if these drugs can rebuild muscle that has already been lost, but the primary goal is to halt or significantly slow the progression of the disease.

Disease-Modifying Therapies in Clinical Trials

The most promising treatments currently in trials use a technology called Antisense Oligonucleotides (ASOs). ASOs are synthetic molecules designed to find and destroy the toxic RNA ^[9]^[10]. Historically, the biggest challenge was getting ASOs to efficiently enter muscle cells ^[11]^[12]. To solve this, scientists have developed Antibody-Oligonucleotide Conjugates (AOCs), which attach the ASO to an antibody that acts like a delivery vehicle, driving the drug directly into the muscle tissue ^[5]^[13].

It is important to remember that all Phase 1 and Phase 2 clinical trials carry unknown risks, as their fundamental purpose is to evaluate safety in humans. Several specific drugs are currently being tested:

DYNE-101: Developed by Dyne Therapeutics, this AOC uses a specialized platform to deliver ASOs directly to muscle tissue ^[14]^[15]. It is administered via an intravenous (IV) infusion. Note: You may sometimes hear about a similar drug called Dyne-251; however, Dyne-251 is specifically designed for Duchenne Muscular Dystrophy (DMD), while DYNE-101 is the specific drug being tested for DM1 ^[16]^[17]. DYNE-101 has received “Breakthrough Therapy” designation from the FDA ^[18]. This is an FDA term meant to speed up the review process for promising drugs—it is not a guarantee that the drug will be successful or approved.
AOC 1001 (delpacibart etedesiran): Developed by Avidity Biosciences, this AOC is also administered as an IV infusion. Early trial results showed a successful reduction of toxic RNA and an increase in functional MBNL proteins in patients ^[19]^[20]. While it has shown promise in improving muscle function, trials are closely monitoring for side effects, as some serious adverse events were reported in early testing ^[19].
Small Molecules (e.g., Tideglusib/AMO-02): Rather than using ASOs, this approach uses an oral drug to block certain pathways in the cell that worsen DM1. Tideglusib is currently being investigated primarily for congenital (present at birth) and childhood-onset forms of DM1 ^[21]^[22]. Because it targets early-onset forms, it may not be an option for adults who developed the disease later in life.

Looking to the Future: Gene Editing

Further back in the research pipeline, scientists are exploring CRISPR/Cas gene editing ^[23]^[24]. While ASOs temporarily clean up the toxic RNA, CRISPR aims to act like molecular scissors to permanently cut out the genetic mutation from the patient’s DNA ^[25]^[26]. This research is currently in the advanced preclinical stage (tested in laboratories and animal models, but not yet in humans) ^[27]^[28].

How to Find and Participate in Clinical Trials

Because DM1 is a rare disease, patient participation is critical for moving these drugs from trials to pharmacy shelves. If you are interested in exploring clinical trials:

Myotonic Dystrophy Foundation (MDF): The MDF website maintains a curated, easy-to-read list of active clinical trials specifically for DM1 ^[29]^[1]. They also advocate to ensure trial designs are not overly burdensome for patients ^[30].
Myotonic Dystrophy Family Registry: By joining this registry, you can be automatically notified when a new trial opens that you might qualify for ^[1]^[31].
ClinicalTrials.gov: This is the official US government database of all clinical trials, though it can be highly technical to navigate ^[32].

When considering a trial, talk to the trial coordinator about travel stipends or remote monitoring options, as many studies offer these to reduce the financial and physical burden of participating. Talk to your neurologist or neuromuscular specialist to see if you are a candidate for any active trials.

Common questions in this guide

How do new treatments for myotonic dystrophy type 1 work?

New therapies aim to target the genetic root cause of DM1 by destroying abnormal, 'toxic' RNA. This frees trapped MBNL proteins in your cells, potentially allowing your muscle cells to function normally again.

Will new DM1 drugs reverse my existing muscle damage?

Currently, experimental treatments are designed to stop or significantly slow the progression of the disease. At this stage of research, it is still unknown if these drugs can rebuild muscle tissue that has already been lost.

What are ASOs and AOCs in DM1 research?

Antisense Oligonucleotides (ASOs) are synthetic molecules designed to locate and destroy the toxic RNA causing DM1. Antibody-Oligonucleotide Conjugates (AOCs) act like a delivery vehicle to help these ASOs enter directly into your muscle tissue.

What is Tideglusib and who is it for?

Tideglusib is an oral medication that blocks certain cellular pathways that worsen DM1. It is primarily being investigated for congenital and childhood-onset forms of the disease, so it may not be an option for adults who developed symptoms later in life.

How can I find active clinical trials for myotonic dystrophy type 1?

You can find active trials through the Myotonic Dystrophy Foundation website or the ClinicalTrials.gov database. Additionally, joining the Myotonic Dystrophy Family Registry allows researchers to notify you directly if you qualify for a new study.

Questions for Your Doctor

5 questions

•Given my current symptom progression, am I a realistic candidate for any active Phase 1 or Phase 2 clinical trials?
•What are the potential risks of participating in early-stage trials that test new therapies like ASOs or AOCs?
•How does my specific genetic test result, such as my CTG repeat length, affect my eligibility for these upcoming trials?
•Do you or your clinic participate in any clinical trials for DM1, or can you refer me to a medical center that does?
•When considering a specific trial, what questions should I ask the study coordinator about travel requirements, stipends, or receiving a placebo?

Questions for You

4 questions

•What are my main goals for joining a clinical trial—am I hoping to directly benefit my own symptoms, or am I primarily hoping to advance research for future generations?
•Given my current level of fatigue and mobility challenges, how much travel and physical disruption am I realistically willing to tolerate for a study?
•Am I willing to accept the unknown risks of an early-stage clinical trial?
•Have I joined a patient registry, such as the Myotonic Dystrophy Family Registry, so researchers can contact me if I qualify for a new study?

Are There New Treatments for Myotonic Dystrophy Type 1?

In this answer

Targeting the Root Cause: Toxic RNA and Trapped Proteins

Disease-Modifying Therapies in Clinical Trials

Looking to the Future: Gene Editing

How to Find and Participate in Clinical Trials

Common questions in this guide

Questions for Your Doctor

Questions for You

Related questions

Get notified when new evidence is published on Steinert myotonic dystrophy.

In this answer

Targeting the Root Cause: Toxic RNA and Trapped Proteins

Disease-Modifying Therapies in Clinical Trials

Looking to the Future: Gene Editing

How to Find and Participate in Clinical Trials

Common questions in this guide

Questions for Your Doctor

Questions for You

Related questions

References

Get notified when new evidence is published on Steinert myotonic dystrophy.