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Study on Eteplirsen for Patients with Duchenne Muscular Dystrophy with Deletion Mutations Amenable to Exon 51 Skipping

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What is this trial about?

A plain-language summary of the goals, design and what participants do

This clinical trial is focused on studying Duchenne Muscular Dystrophy (DMD), a genetic disorder characterized by progressive muscle weakness and degeneration. The study is testing a treatment called eteplirsen, which is administered as a solution for infusion. Eteplirsen is designed to help certain patients with DMD who have specific genetic mutations that can be treated by skipping exon 51, a part of the gene involved in the disease.

The purpose of the study is to evaluate the safety and effectiveness of different doses of eteplirsen. The study begins with an open-label phase, where all participants receive increasing doses of eteplirsen to assess how well they tolerate the treatment. Following this, there is a double-blind phase, where participants are randomly assigned to receive either a high dose or a lower dose of eteplirsen, or a placebo, without knowing which one they are receiving. This phase aims to compare the effects of the different doses on the motor function of patients who can walk and have the specific genetic mutations suitable for exon 51 skipping.

Throughout the study, participants will receive weekly intravenous infusions of eteplirsen. The study will monitor various health indicators, including motor function tests and safety assessments, over a period of time to determine the impact of the treatment. The study is expected to continue until 2026, providing valuable information on the potential benefits and risks of eteplirsen for treating Duchenne Muscular Dystrophy.

The research process

The trial runs in 6 steps – from screening to follow-up. Each step says what happens and what the team monitors.

  1. Step 1

    Joining the study

    Upon joining the study, participation begins with an open-label dose escalation phase. This phase involves receiving weekly intravenous doses of eteplirsen at 100 mg/kg and 200 mg/kg. The purpose is to evaluate safety and tolerability.

  2. Step 2

    Dose escalation phase

    During this phase, the focus is on monitoring for any adverse events, changes in vital signs, and results from physical examinations. Regular assessments include laboratory tests, electrocardiograms (ECGs), and echocardiograms (ECHO).

  3. Step 3

    Double-blind dose finding and comparison

    Following the open-label phase, the study transitions to a double-blind dose finding and comparison phase. Participants receive weekly intravenous doses of eteplirsen at either 30 mg/kg, 100 mg/kg, or 200 mg/kg. The aim is to compare the effects of different doses on motor function.

  4. Step 4

    Motor function assessment

    Motor function is assessed through various tests, including the North Star Ambulatory Assessment (NSAA), time to rise from the floor, 10-meter walk/run time, 6-minute walk test, and a timed 4-step stair ascend test.

  5. Step 5

    Monitoring and safety assessments

    Throughout the study, continuous monitoring for adverse events, special interest events, and serious adverse events is conducted. Safety laboratory assessments, ECGs, and ECHO are performed regularly to ensure participant safety.

  6. Step 6

    Study duration

    The study is expected to continue until October 31, 2026. Participants will be involved in regular assessments and monitoring throughout this period.

Who can join the trial?

10 criteria

  • Must be a male with a confirmed diagnosis of Duchenne Muscular Dystrophy (DMD) and have a specific type of genetic change called an "out-of-frame deletion mutation" that can be treated with exon 51 skipping.
  • Must be between 4 and 13 years old.
  • Must be able to walk and perform a specific test called TTRISE in 10 seconds or less during the screening visit.
  • Must be able to walk without using any assistive devices like crutches or a wheelchair.
  • Must have healthy right and left biceps muscles or another upper arm muscle that can be used for a muscle biopsy, which is a small sample of muscle tissue taken for testing.
  • Must have been taking a stable dose of oral corticosteroids, which are a type of medication, for at least 12 weeks before starting the study, and the dose should stay the same during the study.
  • If 7 years or older, must have stable lung function, meaning the lungs are working well enough, and not need help with breathing at night. If between 4 to 6 years old, must not need a ventilator or other breathing support at the time of screening.
  • If sexually active, must agree to use a male condom during sexual activity for the entire study and for 90 days after the last dose. The partner must also use a medically approved form of birth control.
  • Must have a parent or legal guardian who can understand and follow all the study requirements.
  • Must be willing to give informed assent, which means agreeing to participate, and have a parent or legal guardian willing to give informed consent for participation in the study.

Who cannot join the trial?

4 criteria

  • Patients who are not male cannot participate in the study.
  • Patients who do not have Duchenne Muscular Dystrophy cannot participate in the study.
  • Patients who are not within the specified age range cannot participate in the study.
  • Patients who do not have a confirmed genetic deletion that can be treated with **Exon 51 skipping** cannot participate in the study. Exon 51 skipping is a specific genetic treatment approach for certain types of Duchenne Muscular Dystrophy.
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Investigated drugs

Eteplirsen is a medication being studied for its potential to help patients with Duchenne Muscular Dystrophy (DMD). This condition is a genetic disorder characterized by progressive muscle degeneration and weakness. Eteplirsen is designed to target specific genetic mutations that are amenable to exon 51 skipping, which may help improve muscle function. The trial involves administering eteplirsen through weekly intravenous (IV) doses to evaluate its safety, tolerability, and effectiveness in improving motor function in patients with DMD.

What is already known about the treatment

Eteplirsen – Eteplirsen is administered through an intravenous (IV) infusion, typically given on a weekly basis. It is currently being studied in clinical trials for its safety and effectiveness in treating Duchenne Muscular Dystrophy (DMD), particularly in patients with specific genetic deletions that can benefit from exon 51 skipping. The medication works by binding to RNA and promoting the skipping of exon 51 during mRNA processing, which helps produce a functional dystrophin protein, albeit shorter than normal. Eteplirsen is classified as an antisense oligonucleotide, a type of genetic therapy aimed at modifying gene expression.

Investigated diseases

Duchenne Muscular Dystrophy – Duchenne Muscular Dystrophy is a genetic disorder characterized by progressive muscle weakness and degeneration. It primarily affects boys and is caused by mutations in the dystrophin gene, which is crucial for maintaining muscle cell structure. Symptoms usually begin in early childhood, with affected individuals experiencing difficulty in walking, running, and jumping. As the disease progresses, muscle weakness spreads to the arms, neck, and other areas, leading to loss of mobility. Over time, individuals may also experience complications in the heart and respiratory muscles. The progression of muscle weakness varies, but it generally leads to significant physical disability.
Trial detailsLast updated 2 Oct 2026
Age0-17PhasePhase IIITrial ID2024-511492-15-00Protocol code4658-402Estimated enrolment160 patientsSponsorSarepta Therapeutics Inc.

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On this site, “treatment” means an investigational medicine being studied in a clinical trial. Its safety and efficacy for the use being studied have not yet been confirmed, some participants may receive a placebo or a comparator medicine, and taking part does not guarantee any health benefit. The decision to take part is made by the doctor at the research site. This site is for information only and does not replace medical advice.

This service is not affiliated with the European Commission, the EMA, or the official CTIS system. Most information comes from publicly available international clinical-trial registries, supplemented by data from academic sites, national regulators and commercial sponsors. On this site, “treatment” and “therapy” mean a medicine being tested in a clinical trial. Its safety and effectiveness in the use being studied are not yet confirmed, some participants may receive a placebo or a comparator, and taking part does not guarantee a health benefit. The doctor at the research site decides who can take part. This site provides information, not medical advice. Certain content and visual elements on this website have been generated or enhanced using artificial intelligence (AI).