What side effects are associated with this type of intervention?

Gene transfer therapy for DMD, such as the use of recombinant adeno-associated viral (rAAV) vectors carrying microdystrophin or minidystrophin genes, has shown promising results but also presents potential side effects. These include immune responses such as the development of dystrophin-specific T-cells, which can hinder the therapy's effectiveness. Other investigational treatments like eteplirsen and golodirsen, which are antisense oligonucleotides designed to induce exon skipping, have been associated with side effects such as vomiting, balance disorder, contact dermatitis, and upper respiratory tract infections. Glucocorticoids, another common treatment, can cause weight gain, bone thinning, high blood pressure, and mood swings.

What prior FDA approvals exist?

Several FDA-approved treatments for Duchenne Muscular Dystrophy (DMD) involve genetic modifications similar to gene transfer therapy. These include exon skipping drugs such as eteplirsen (ExonDys 51), golodirsen (Vyondys 53), viltolarsen, and casimersen. These drugs work by skipping specific exons in the DMD gene to allow the production of a shorter but functional dystrophin protein. Eteplirsen skips exon 51, golodirsen skips exon 53, viltolarsen also targets exon 53, and casimersen skips exon 45. These treatments aim to increase dystrophin production in muscle cells, thereby compensating for the defective or missing gene in DMD patients.

What other types of research exist?

Promising alternatives to Gene Transfer Therapy for DMD patients include: 1) Exon skipping therapies such as casimersen, which increase dystrophin production. 2) Ataluren, an orally administered drug that promotes ribosomal read-through of nonsense mutations, potentially restoring functional protein production. 3) Stem cell therapies, including induced pluripotent stem cells (iPSCs) for tissue regeneration and gene correction. These alternatives are in various stages of clinical trials and offer potential benefits for DMD patients.

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Gene Transfer Therapy for Duchenne Muscular Dystrophy (EMBARK Trial)

Phase 3

Waitlist Available

Research Sponsored by Sarepta Therapeutics, Inc.

Eligibility Criteria Checklist

Specific guidelines that determine who can or cannot participate in a clinical trial

Must have

Is ambulatory and from 4 to under 8 years of age at time of randomization.

Definitive diagnosis of DMD based on documented clinical findings and prior genetic testing.

Timeline

Screening 3 weeks

Treatment Varies

Follow Up baseline, week 52

Awards & highlights

Pivotal Trial

Summary

This trial tests a gene therapy that adds healthy genes to help boys with Duchenne Muscular Dystrophy (DMD) improve their muscle function. Gene therapy has been explored as a potential treatment for Duchenne Muscular Dystrophy (DMD) through various studies and trials.

Who is the study for?

This trial is for boys aged 4 to under 8 with Duchenne Muscular Dystrophy (DMD), confirmed by genetic testing. They must be able to do motor tests, on a stable dose of corticosteroids, and not have high rAAVrh74 antibody levels or previous gene therapy.

What is being tested?

The study tests the safety and effectiveness of delandistrogene moxeparvovec (SRP-9001), a gene transfer therapy against a placebo in boys with DMD. It's randomized and double-blind; those initially receiving placebo may get the therapy after one year.

What are the potential side effects?

Potential side effects are not specified but may include immune reactions due to gene transfer, issues from long-term corticosteroid use, or complications related to underlying DMD.

Eligibility Criteria

Inclusion Criteria

You may be eligible if you check “Yes” for the criteria below

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I am between 4 and 8 years old and can walk on my own.

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I have been officially diagnosed with Duchenne Muscular Dystrophy.

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I can participate in tests that measure my muscle movements.

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I am between 4 and 7 years old and can walk on my own.

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I have a confirmed diagnosis of Duchenne Muscular Dystrophy.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ baseline, week 52

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~baseline, week 52

This trial's timeline: 3 weeks for screening, Varies for treatment, and baseline, week 52 for reporting.

Treatment Details

Study Objectives

Study objectives can provide a clearer picture of what you can expect from a treatment.

Secondary study objectives

Upper Extremity

Awards & Highlights

Pivotal Trial

The final step before approval, pivotal trials feature drugs that have already shown basic safety & efficacy.

Trial Design

2Treatment groups

Experimental Treatment

Placebo Group

Group I: Delandistrogene Moxeparvovec followed by PlaceboExperimental Treatment2 Interventions

Participants will receive single intravenous (IV) infusion of delandistrogene moxeparvovec on Day 1. Then, participants will receive a single IV infusion of matching placebo at Year 2.

Group II: Placebo followed by Delandistrogene MoxeparvovecPlacebo Group2 Interventions

Participants will receive matching placebo IV infusion on Day 1. Then, participants will have the opportunity to receive a single IV infusion of delandistrogene moxeparvovec at Year 2.

Treatment

First Studied

Drug Approval Stage

How many patients have taken this drug

placebo

2010

Completed Phase 4

~6580

delandistrogene moxeparvovec

2018

Completed Phase 2

~50

0 / 5Eligibility criteria met

Research Highlights

Information in this section is not a recommendation. We encourage patients to speak with their healthcare team when evaluating any treatment decision.

Mechanism Of Action

Side Effect Profile

Prior Approvals

Other Research

Gene transfer therapy for Duchenne Muscular Dystrophy (DMD) involves introducing a functional gene to compensate for the defective or missing dystrophin gene, using viral vectors to deliver microdystrophin or minidystrophin genes. Other genetic therapies, such as exon skipping drugs like eteplirsen, golodirsen, and viltolarsen, work by skipping specific exons in the DMD gene to produce a shorter but functional dystrophin protein. These treatments are vital for DMD patients as they aim to restore or increase dystrophin production, essential for muscle function and stability, potentially slowing disease progression and improving quality of life.

Mutation-Based Therapeutic Strategies for Duchenne Muscular Dystrophy: From Genetic Diagnosis to Therapy.