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Myotonic dystrophy – Trials in Disease

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Ongoing Clinical Trials for Myotonic Dystrophy

There are currently 7 ongoing clinical trials investigating new treatments for myotonic dystrophy type 1, a genetic disorder that causes progressive muscle weakness and difficulty relaxing muscles after use. These trials are testing several investigational medications including DYNE-101, ATX-01, VX-670, AOC 1001, and metformin, and are being conducted across multiple European countries including France, Germany, Italy, Netherlands, Spain, Belgium, Denmark, and Ireland.

Clinical trial locations

Safety and effectiveness study of DYNE-101 in patients with Myotonic Dystrophy Type 1 (DM1)

This trial is testing DYNE-101, a new medication delivered through intravenous infusion, for people with myotonic dystrophy type 1. The study aims to evaluate the safety and tolerability of this specially designed antibody medication when given in multiple doses.

Main inclusion criteria: Participants must be between 18 and 65 years old, with a confirmed genetic diagnosis showing more than 100 trinucleotide repeats. The first muscle symptoms must have started at age 12 or later. Participants must have muscle stiffness with hand opening time of at least 2 seconds, and hand grip strength and ankle strength between 20% and 80% of normal range. They must be able to walk, climb stairs, and stand from sitting without mobility aids, though ankle supports are allowed. Body Mass Index must be less than 35 kg/m².

Main exclusion criteria: People cannot participate if they are pregnant or breastfeeding, have a history of severe allergic reactions to medications, have significant heart, liver, or kidney problems, or are using medications that could interfere with the study drug. Active infections, major illnesses, blood clotting disorders, unstable medical conditions, or a history of drug or alcohol abuse within the past year are also reasons for exclusion.

Study focus: The trial will examine how the medication affects muscle tissue through regular assessments of muscle strength, including hand grip strength, 10-meter walk/run test, stair climbing, sit-to-stand test, and 9-hole peg test. Multiple muscle tissue samples will be collected during the study to evaluate how the medication affects muscle cells. The study is expected to continue until February 2030.

Investigational drug: DYNE-101 is an investigational antibody medication administered intravenously that targets specific proteins in the body to address muscle tissue symptoms in people with this condition.

Study on ATX-01 for Adults Aged 18-64 with Myotonic Dystrophy Type 1 (DM1)

This clinical trial is evaluating ATX-01, a synthetic antisense oligonucleotide solution administered intravenously. The study is conducted in a double-blind manner, meaning neither participants nor researchers know who receives the actual treatment or placebo.

Main inclusion criteria: Participants must be between 18 and 64 years old with a confirmed diagnosis supported by genetic testing showing more than 150 repeats in the DMPK gene. They must be able to walk or run 10 meters without assistive devices, except for ankle-foot braces. Participants must have grip myotonia lasting more than 3 seconds and a Body Mass Index less than 35 kg/m². They must be able to undergo muscle biopsies as required by the study schedule.

Main exclusion criteria: The trial excludes individuals who do not have the confirmed diagnosis, those outside the specified age range, and people considered part of vulnerable populations who might be at higher risk of harm or have limited decision-making ability.

Study focus: The trial involves both single and multiple ascending doses to evaluate safety and tolerability. Researchers will measure pharmacokinetic parameters in plasma and urine to understand how the drug is processed, assess pharmacodynamic biomarkers including changes in muscle protein expression and RNA splice index, and evaluate preliminary clinical efficacy through hand opening time, ankle dorsiflexion strength, and impact on daily activities. The study is estimated to conclude by December 2025.

Investigational drug: ATX-01 is an experimental medication in the form of a solution for intravenous injection, currently in Phase 1/2a trials. It is designed to target and modify specific pathways involved in the disease process.

Study on the Effects of Metformin for Improving Muscle Function in Patients with Myotonic Dystrophy Type 1

This clinical trial is comparing the effects of metformin, a medication commonly used to treat type 2 diabetes, with a placebo to determine if it can improve muscle function in people with myotonic dystrophy type 1. This study is being conducted only in France.

Main inclusion criteria: Participants must be between 18 and 70 years old with a diagnosis confirmed by genetic analysis. They must have preserved walking abilities, even if a walking stick is needed for assistance, and a Muscular Impairment Rating Scale score of 3 or 4. Women who can have children must use effective birth control during the study and for 2 days after treatment ends. Participants must understand French or have assistance from a family member or medical team member, and be part of a social security system.

Main exclusion criteria: People without the confirmed diagnosis, those outside the specified age range, and individuals considered part of vulnerable populations cannot participate.

Study focus: The study will last approximately 12 months with regular check-ups to monitor muscle function and overall health. Various aspects of muscle function will be measured, including walking ability using the Motor Function Measure (MFM-32) scale, hand-grip strength, and pinch strength. The study will also assess heart and lung function and overall quality of life. Safety will be monitored by tracking any serious side effects throughout the treatment period.

Investigational drug: Metformin Viatris 500 mg is administered orally as a dispersible tablet. While commonly used for diabetes, this Phase III trial is exploring whether metformin can improve muscle function by decreasing glucose production in the liver and improving insulin sensitivity.

Study on the Safety of VX-670 for Adults with Myotonic Dystrophy Type 1

This clinical trial is evaluating VX-670, a new treatment administered as a solution for injection or infusion, to assess its safety and tolerability in adults. The study is divided into two parts: the first part involves single doses, while the second part includes both single and multiple doses.

Main inclusion criteria: Participants must be between 18 and 64 years old with a body mass index less than 35.0 kg/m² and weighing more than 40 kg. They must have a confirmed diagnosis with symptoms starting after age 1 and a positive genetic test showing a CTG repeat of at least 100. For Part B of the study, participants must be able to walk 10 meters without help (ankle braces allowed), show myotonia with hand opening time of 2 seconds or more, and have hand grip strength between 20% and 80% of expected strength. Left ventricular ejection fraction must be greater than 55% within the last 3 months.

Main exclusion criteria: People without the confirmed diagnosis, those outside the specified age range, and individuals considered part of vulnerable populations are excluded.

Study focus: Participants will be closely monitored for side effects or changes in health through regular check-ups, laboratory tests, and electrocardiograms. The study will assess how the body processes the treatment and measure drug concentration in plasma and muscle tissue. Changes in muscle biopsy samples and vital signs will be evaluated, with mental health monitored using the Columbia Suicide Severity Rating Scale.

Investigational drug: VX-670 is an investigational medication in Phase 1/2 trials, administered intravenously. It is believed to work by modulating specific pathways that are disrupted in this condition, though the exact mechanism is still under investigation.

Study of intravenous AOC 1001 to evaluate long-term safety and effectiveness in patients with myotonic dystrophy type 1

This study focuses on testing AOC 1001, a specialized medication that combines an antibody with genetic material, given through intravenous infusion. This is a continuation study following up on previous research with the same medication, and it is open-label, meaning all participants will receive the active medication.

Main inclusion criteria: Participants must be able to give written consent, and if they are minors (under 18 years old), their legal guardian must also provide consent. They must have previously participated in an AOC 1001 study and completed all required treatments and follow-up visits successfully, following all rules and requirements properly. The study accepts children ages 2-11 and adolescents ages 12-17 who are willing and able to follow all study requirements and understand age-appropriate study information.

Main exclusion criteria: People are excluded if they are below 18 or above 65 years, lack a confirmed genetic diagnosis, are pregnant or breastfeeding, participated in another clinical trial within the past 30 days, have a history of severe allergic reactions to medications, have significant heart, liver, or kidney problems, have uncontrolled high blood pressure, active infections, major surgery within 3 months, history of drug or alcohol abuse within the past year, or mental health conditions that could interfere with participation.

Study focus: The study aims to evaluate long-term safety and effectiveness over an extended period, potentially lasting up to 48 weeks. Participants will receive regular infusions with the dose based on body weight, up to a maximum of 4 mg per kilogram. Health will be monitored for treatment-related side effects, with medical staff tracking any changes in condition throughout the study, which is planned to run from January 2026 to October 2030.

Investigational drug: AOC 1001 is a Phase 3 investigational medication given through intravenous injection, designed to address the underlying genetic cause of the disease. It is currently being evaluated for its long-term safety, tolerability, and effectiveness.

Study on Long-Term Safety and Efficacy of VX-670 for Adults with Myotonic Dystrophy Type I

This clinical trial focuses on studying the long-term effects of VX-670 treatment administered as a solution for injection or infusion directly into the bloodstream. The study aims to evaluate how safe and tolerable VX-670 is for patients over an extended period.

Main inclusion criteria: Participants must have the condition and must sign and date an informed consent form showing they agree to join the study. They must have completed a previous VX-670 study, specifically having received at least two doses of the study drug in Study 001, Part B. Participants must be willing and able to attend scheduled visits, follow the treatment plan, adhere to study rules, undergo safety tests, follow pregnancy prevention guidelines, and participate in other study procedures.

Main exclusion criteria: People without the condition, those not within the specified age range, and patients who are part of vulnerable populations cannot participate.

Study focus: The study involves receiving VX-670 through intravenous administration, with frequency and dosage determined by the study protocol. Regular visits are scheduled to monitor health and response to the medication, checking for side effects and overall well-being through vital signs, electrocardiograms, and laboratory tests. At Week 24, a muscle biopsy of the tibialis anterior muscle will be performed to study changes and measure VX-670 concentration in plasma and muscle tissues. The study is estimated to end on November 16, 2029.

Investigational drug: VX-670 is an investigational oral medication in tablet form, currently being studied for its potential to improve muscle function and reduce symptoms by targeting specific molecular pathways involved in the disease.

Study on AOC 1001 for Treating Myotonic Dystrophy Type 1 in Patients

This clinical trial is testing AOC 1001, a special type of medication that combines a humanized antibody with genetic material, delivered directly into the bloodstream through intravenous infusion. The study aims to evaluate how effective AOC 1001 is in improving hand function.

Main inclusion criteria: Participants must be between 16 and 65 years old (18 to 65 years in Denmark and Germany). They must have a clinical and genetic diagnosis with a CTG repeat length of 100 or more, and be able to walk independently for at least 10 meters (orthoses or ankle braces are allowed).

Main exclusion criteria: People with a different condition, individuals outside the specified age range, those not part of the specified clinical trial groups based on specific criteria, and individuals considered part of vulnerable populations such as children, pregnant women, or those with certain disabilities are excluded.

Study focus: The study will last for 54 weeks with regular visits to monitor progress and assess changes. Researchers will focus on measuring changes in hand function, specifically the time taken to open the hand (video Hand Opening Time), as well as hand grip strength, muscle strength scores, and overall health and quality of life. Primary evaluation occurs at Week 30, with secondary evaluations at Week 30 and Week 54. The study is expected to conclude by October 2026.

Investigational drug: AOC 1001 is a Phase 3 investigational medication administered intravenously, designed to target specific genetic components to potentially correct or mitigate the effects of the disease.

Summary

The current landscape of clinical trials for myotonic dystrophy type 1 shows significant research activity across Europe, with 7 ongoing studies testing different therapeutic approaches. The trials are geographically concentrated in several key European countries, with France hosting all seven trials, followed by Netherlands, Germany, Italy, and Spain each participating in multiple studies. This geographic distribution reflects strong research infrastructure and expertise in neuromuscular disorders across these countries.

Several investigational drugs are being evaluated simultaneously, including DYNE-101, ATX-01, VX-670, and AOC 1001, which represent novel approaches targeting the genetic and molecular basis of the condition. Notably, one trial is also investigating metformin, a well-established diabetes medication, for its potential to improve muscle function through a different mechanism. The trials range from early safety studies to late-stage Phase 3 efficacy trials, with some studies specifically designed to evaluate long-term safety and effectiveness over extended periods.

Most trials focus on measuring improvements in muscle function through various assessments including hand opening time, grip strength, walking ability, and overall quality of life. The inclusion criteria across studies generally target adults between 18 and 65 years old with confirmed genetic diagnoses, though one trial also includes adolescents and children. The comprehensive approach taken by these trials, combining safety monitoring with functional assessments and quality of life measures, reflects the complex nature of this condition and the need for treatments that address multiple aspects of daily living.

Ongoing Clinical Trials on Myotonic dystrophy

  • Study Comparing the Safety and Effectiveness of Mexiletine PR and Mexiletine IR for Adults with Non-Dystrophic Myotonias

    Recruiting

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    Belgium France Germany Italy

  • Long-Term Safety and Efficacy Study of Mexiletine Hydrochloride for Patients with Myotonic Dystrophy Type 1 and Type 2

    Recruiting

    1 1 1
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    Belgium Denmark Germany Italy Spain

  • Study on the Effects of Mexiletine for Treating Myotonic Dystrophy Types 1 and 2 in Patients

    Recruiting

    1 1
    Investigated diseases:
    Investigated drugs:
    Belgium Denmark Germany Italy Spain

  • Study on the Safety of VX-670 for Adults with Myotonic Dystrophy Type 1

    Recruiting

    1
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    Belgium France Germany Italy The Netherlands Spain

  • Study on ATX-01 for Adults Aged 18-64 with Myotonic Dystrophy Type 1 (DM1)

    Recruiting

    1
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    France Italy The Netherlands Spain

  • A study to evaluate the efficacy and safety of DYNE-101 in patients with Myotonic Dystrophy Type 1

    Not yet recruiting

    1 1 1
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    Belgium Denmark France Germany Italy The Netherlands +1

  • A study testing the safety and effects of ADS-019 in adults aged 18 to 65 years with type 1 myotonic dystrophy

    Not yet recruiting

    1
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    Belgium Germany Italy Spain

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