What side effects are associated with this type of intervention?

Common treatments for Duchenne Muscular Dystrophy (DMD) include gene therapies, antisense oligonucleotides, and glucocorticoids. Gene therapies using adeno-associated virus (AAV) vectors, like the scAAV9.U7.ACCA trial, may face challenges such as immune responses, which can limit efficacy. Antisense oligonucleotides like eteplirsen and golodirsen can cause side effects such as balance disorder, vomiting, contact dermatitis, and upper respiratory tract infections. Glucocorticoids, often used to manage DMD, can lead to weight gain, bone thinning, high blood pressure, and mood changes. Monitoring and managing these side effects is crucial for optimizing patient outcomes.

What prior FDA approvals exist?

The FDA has approved several treatments for Duchenne Muscular Dystrophy (DMD) that focus on genetic correction or modification. Eteplirsen (ExonDys 51) is designed to skip exon 51 in the DMD gene, allowing for the production of a functional dystrophin protein. Golodirsen (Vyondys 53) and Viltolarsen are similar exon-skipping drugs targeting exon 53. Casimersen targets exon 45. These treatments aim to increase dystrophin production in muscle cells. Additionally, gene therapy approaches using adeno-associated viral (AAV) vectors, like the one being studied in the scAAV9.U7.ACCA trial, are under investigation to correct specific genetic defects in DMD patients.

What other types of research exist?

Promising alternatives to scAAV9.U7.ACCA for DMD patients include: 1) Viltolarsen, an antisense oligonucleotide for exon 53 skipping, which has shown increased dystrophin production and functional improvements in clinical trials. 2) Casimersen, another antisense oligonucleotide targeting exon 45, approved based on increased dystrophin levels. 3) Ataluren, an oral drug for nonsense mutation read-through, conditionally approved in the EU for its potential to produce functional dystrophin. These treatments offer different approaches to increasing dystrophin production and improving patient outcomes.

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Gene Therapy

Gene Therapy for Duchenne Muscular Dystrophy

Phase 1 & 2

Waitlist Available

Led By Megan Waldrop, MD

Research Sponsored by Megan Waldrop

Eligibility Criteria Checklist

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

Must have

Age greater than 6 months and less than 14 years

Confirmed duplication of exon 2 in the DMD gene using a clinically accepted technique that completely defines the mutation

Must not have

Symptoms or signs of cardiomyopathy, including dyspnea on exertion, pedal edema, shortness of breath upon lying flat, or rales at the base of the lungs

Active viral infection based on clinical observations

Timeline

Screening 3 weeks

Treatment Varies

Follow Up 2 years

Awards & highlights

No Placebo-Only Group

Summary

This trial uses a special virus to deliver genetic material to boys with Duchenne muscular dystrophy who have a specific gene issue. The treatment helps their bodies make a better version of an important muscle protein.

Who is the study for?

This trial is for boys aged 6 months to less than 14 years with Duchenne muscular dystrophy due to a specific genetic change (duplication of exon 2). Participants can be walking or not and must have been on stable corticosteroid therapy if over age 4. They cannot join if they have heart problems, certain infections like HIV or hepatitis, autoimmune diseases, abnormal blood counts, or high antibodies against the treatment vector.

What is being tested?

The trial tests a single dose of gene therapy called scAAV9.U7.ACCA delivered through an injection into a vein in the arm. It's designed for boys with Duchenne muscular dystrophy who have duplication of exon 2 in their genes. The study is open-label, meaning everyone knows what treatment is being given.

What are the potential side effects?

Potential side effects may include reactions at the injection site, immune responses to the AAV9 vector such as fever or chills, muscle pain from muscle testing procedures and possible risks associated with gene therapy that are currently unknown.

Eligibility Criteria

Inclusion Criteria

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

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I am between 6 months and 14 years old.

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My test shows a specific genetic change in the DMD gene.

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I can walk 10 meters without help or I cannot walk yet.

Exclusion Criteria

You may be eligible for the trial if you check “No” for criteria below:

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I experience symptoms like shortness of breath, swollen feet, or difficulty breathing when lying down.

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I currently have an active viral infection.

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I have been diagnosed with or am being treated for an autoimmune disease.

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My heart's pumping ability is below normal.

Timeline

Screening ~ 3 weeks3 visits

Treatment ~ Varies

Follow Up ~ 2 years

Screening ~ 3 weeks

Treatment ~ Varies

Follow Up ~2 years

This trial's timeline: 3 weeks for screening, Varies for treatment, and 2 years for reporting.

Treatment Details

Study Objectives

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

Primary study objectives

Monitoring for the development of unacceptable toxicity.

Secondary study objectives

Change in dystrophin expression from baseline following treatment with scAAV9.U7.ACCA.

Changes in exon 2 inclusion in the dystrophin mRNA transcript.

Awards & Highlights

No Placebo-Only Group

All patients enrolled in this study will receive some form of active treatment.

Trial Design

1Treatment groups

Experimental Treatment

Group I: Cohort 1 (Minimal Efficacious Dose)Experimental Treatment1 Intervention

The Minimal Effective Dose (MED) will be delivered.

0 / 7Eligibility 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

The most common treatments for Duchenne Muscular Dystrophy (DMD) include gene therapy and exon skipping. Gene therapy, such as the scAAV9.U7.ACCA trial, uses adeno-associated virus (AAV) vectors to deliver genetic material that can correct or replace the defective dystrophin gene, thereby restoring the production of functional dystrophin protein. Exon skipping drugs, like eteplirsen and golodirsen, work by skipping over specific faulty exons in the dystrophin gene, allowing the production of a shorter but functional dystrophin protein. These treatments are crucial for DMD patients as they aim to restore or increase dystrophin levels, which are essential for maintaining muscle strength and function, potentially slowing disease progression and improving quality of life.

Exon-Skipping in Duchenne Muscular Dystrophy.