Revolutionary Gene Therapies Offer New Hope for Boys with Duchenne Muscular Dystrophy

Published date: December 20, 2024

Aravindhan Veerapandiyan, M.D., known as “Dr. Panda,” a pediatric neurologist at Arkansas Children’s Hospital in Little Rock, is leading gene therapy clinical trials for Duchenne Muscular Dystrophy (DMD). While DMD has no cure, Dr. Panda’s trials are working to slow the progression of the disease and allow families to help their child manage it better.

Aravindhan Veerapandiyan, M.D., known as “Dr. Panda,” a pediatric neurologist at Arkansas Children’s Hospital (ACH) in Little Rock, is improving the lives of patients living with Duchenne Muscular Dystrophy (DMD). Though there’s currently no cure for DMD, a progressive neuromuscular disorder, Dr. Panda leads several gene therapy clinical trials that hope to change the direction of the disease.

Dr. Panda, also an associate professor of pediatrics at the University of Arkansas for Medical Sciences (UAMS) and a researcher at Arkansas Children’s Research Institute, was asked by pharmaceutical companies to be the principal investigator for the studies of new therapies to combat DMD. “I want to make sure that children from Arkansas and the neighboring rural states have equal opportunity to access these clinical trials,” Dr. Panda said. “Historically, if you look at clinical trial participation, representation from the underserved rural states such as Arkansas is minimal.”

Cutting-Edge Trials

An estimated 15,000 boys in the United States and 300,000 worldwide live with DMD.

“Though available treatments such as corticosteroids and newer treatments, such as exon-skipping therapies, can slow down the disease process, no available therapy can halt the condition’s progression or, more optimistically, reverse it,” Dr. Panda said. “These cutting-edge therapies have the potential to impact the trajectory of the disease.”

Dr. Panda’s trials are:

AFFINITY DUCHENNE: RGX-202 Gene Therapy in Participants with Duchenne Muscular Dystrophy (DMD)
A Gene Transfer Therapy Study to Evaluate the Safety and Efficacy of Delandistrogene Moxeparvovec (SRP-9001) in Participants with Duchenne Muscular Dystrophy (DMD) (EMBARK)
A Gene Transfer Therapy Study to Evaluate the Safety and Efficacy of Delandistrogene Moxeparvovec (SRP-9001) in Non-Ambulatory and Ambulatory Participants with Duchenne Muscular Dystrophy (DMD) (ENVISION)
Study to Evaluate the Safety and Efficacy of PF-06939926 for the Treatment of Duchenne Muscular Dystrophy (DMD)
Inspire Duchenne: A Study of SGT-003 Gene Therapy in Duchenne Muscular Dystrophy (DMD)

Changing DMD Lives and Beyond

These gene therapy trials and treatments are changing outlooks for DMD patients like Arkansas Children’s patient Wesley Benham, 7. Just before turning 6, Benham received his single Elevidys infusion Aug. 11, 2023. At the time, he was one of about 25 boys in the U.S. to receive the FDA-approved gene therapy. Now, several more patients have received the treatment.

Wesley and his family traveled roughly five hours round-trip weekly for blood tests to check his organ function.

“There are side effects associated with this drug that need close follow-up and monitoring. I know they’re a reliable family. I can have them follow-up with me as much as I want to ensure he’s doing OK and safe after receiving the therapy,” Dr. Panda said.

While DMD is a deadly disease with no cure and, in the past, “no open doors,” Dr. Panda said these novel gene therapies reach beyond what was formerly possible.

“All these newer gene transfer therapies are opening doors for these boys to possibly live longer and lead a good quality of life. It’s changing the trajectory of the disease, changing the trajectory of their lives, improving the quality of life for the boys and their families,” Dr. Panda said. “It also serves as a prototype for several other rare neuromuscular diseases where we can integrate these gene transfer therapies.”

A Closer Look: Duchenne Muscular Dystrophy Trials

AFFINITY DUCHENNE: RGX-202 Gene Therapy in Participants with Duchenne Muscular Dystrophy (DMD)

Here is detailed information regarding Dr. Panda’s groundbreaking Duchenne Muscular Dystrophy (DMD) trials. This is a phase I/II gene therapy trial for boys with DMD sponsored by REGENXBIO. RGX-202 delivers a transgene for a novel microdystrophin, a shortened and functional version of dystrophin protein, using an AAV8 viral vector. It is currently enrolling ambulatory patients 1 and older. The Biologics License Application (BLA) is expected in 2026.

Earlier data from the trial showed positive functional results for the first five participants. Across both dose levels, the evidence shows a positive impact on the disease trajectory. Patients have shown stable or improved function on timed function tests and the North Star Ambulatory Assessment (NSAA).

“I am encouraged by these initial results demonstrating that RGX-202 appears to be well tolerated and leads to robust microdystrophin expression in muscle tissue, which are important early findings,” Dr. Panda said.

A Gene Transfer Therapy Study to Evaluate the Safety and Efficacy of Delandistrogene Moxeparvovec (SRP-9001) in Participants with Duchenne Muscular Dystrophy (DMD) (EMBARK)

Delandistrogene moxeparvovec is a gene transfer therapy that uses a recombinant adeno-associated virus of the rhesus isolate serotype 74 (rAAVrh74) and is administered as a single dose.

This is a phase III confirmatory trial. The drug’s brand name is Elevidys by Sarepta Therapeutics, which sponsored the trials. The FDA approved this therapy in June 2023 for boys aged 4 and 5 years. The label expanded to treat boys with DMD who are 4 years and older. Enrollment is complete for the study. It is approved in the United States and select countries. The drug is intended to introduce a modified form of the dystrophin gene into muscle cells. It helps the cells produce micro-dystrophin to enhance muscle performance, potentially slowing the disease’s progression.

Even after FDA approval, the trial retained the participants in the study.

A Gene Transfer Therapy Study to Evaluate the Safety and Efficacy of Delandistrogene Moxeparvovec (SRP-9001) in Non-Ambulatory and Ambulatory Participants with Duchenne Muscular Dystrophy (DMD) (ENVISION)

This phase III clinical trial, sponsored by Sarepta Therapeutics, is geared towards non-ambulatory DMD boys. It assesses SRP-9001's ability to improve muscle function through a modified version of the dystrophin protein through adeno-associated virus (AAV) vector. Enrollment is complete. There are four boys enrolled in the study so far, and they have completed their first infusion.

Study to Evaluate the Safety and Efficacy of PF-06939926 for the Treatment of Duchenne Muscular Dystrophy (DMD)

This phase III clinical trial is sponsored by Pfizer. PF-06939926 is a gene therapy that utilizes the adeno-associated virus serotype 9 (AAV9) to deliver the mini-dystrophin gene. Arkansas Children’s is one of the study's sites, and enrollment is complete.

Inspire Duchenne: A Study of SGT-003 Gene Therapy in Duchenne Muscular Dystrophy (DMD)

This phase I/II clinical trial, sponsored by Solid Biosciences, uses next-generation AAV micro-dystrophin gene therapy candidate SGT-003. The trial expanded enrollment to 43 participants, ages 4 to under 12. The timeline for evaluating functional endpoints is extended from 12 to 18 months, providing a more comprehensive assessment of SGT-003’s ability to influence disease progression. Data from the initial three patients is expected to be released in early 2025.