HJAR Jan/Feb 2025

HEALTHCARE JOURNAL OF ARKANSAS I  JAN / FEB 2025 37 Aravindhan Veerapandiyan, MD Pediatric Neurologist Arkansas Children’s 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 Sarep- ta Therapeutics, which sponsored the tri- als. The FDAapproved 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 U.S. and select countries. The drug is intended to in- troduce a modified form of the dystrophin gene into muscle cells. It helps the cells pro- duce microdystrophin to enhance muscle performance, potentially slowing the dis- ease’s progression. Even after FDAapproval, we retained the participants in the study. ENVISION Agene transfer therapy study to evaluate the safety and efficacy of delandistrogenemox- eparvovec (SRP-9001) in non-ambulatory and ambulatory participants withDMD This phase III clinical trial, sponsored by Sarepta Therapeutics, is geared toward non-ambulatory DMD boys. It assesses SRP- 9001’s ability to improve muscle function through a modified version of the dystro- phin protein through adeno- associated virus (AAV) vector. Enrollment is complete. Four boys have enrolled in the study so far, and they have completed their first infusion. CIFFREO Study to evaluate the safety and efficacy of PF-06939926 for the treatment of DMD This phase III clinical trial is sponsored by Pfizer. PF-06939926 is a gene therapy that utilizes the adeno-associated virus se- rotype 9 (AAV9) to deliver the mini-dystro- phin gene. Arkansas Children’s is one of the study’s sites, and enrollment is complete. INSPIRE DUCHENNE Astudy of SGT-003 gene therapy inDMD This phase I/II clinical trial, sponsored by Solid Biosciences, uses next-generationAAV microdystrophin 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 progres- sion. Data from the initial three patients is expected to be released in early 2025. These gene therapy trials and treatments are changing the outlook for DMD patients likeArkansas patientWesley 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. who received the FDA-approved gene therapy Elevidys. Now, several more patients have received the treatment. Wesley and his family traveled rough- ly five hours round-trip weekly from the Jonesboro area for blood tests to check his organ function in Little Rock. There are side effects associated with this drug that need close follow-up and monitoring. All these newer gene transfer therapies are opening doors for these boys to possibly live longer and have a good quality of life. It also serves as a prototype for several other rare neuromuscular diseases where we can integrate these gene transfer therapies. n Aravindhan Veerapandiyan, MD,“Dr. Panda,” is a pe- diatric neurologist, director of the comprehensive neuromuscular programand the Parent Project Mus- cular Dystrophy Certified Duchenne Care Center,and co-director of the Pediatric Muscular Dystrophy As- sociation Care Center at Arkansas Children’s Hos- pital in Little Rock. He is a researcher at Arkansas Children’s Research Institute.He is also an associate professor of pediatrics at the University ofArkansas for Medical Sciences. disease process, no available therapy can halt the condition’s progression or, more optimistically, reverse it. A promising approach for treating this life-threatening disease is gene transfer to restore dystrophin expression using a safe, non-pathogenic viral vector. These cutting- edge therapies have the potential to impact the trajectory of the disease. The trials are: AFFINITY DUCHENNE RGX-202 gene therapy in participants with DMD This is a phase I/II gene therapy trial for boys with DMD sponsored by REGENX- BIO. 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 partici- pants. Across both dose levels, the evidence shows a positive impact on the disease tra- jectory. Patients have shown stable or im- proved function on timed function tests and the North Star AmbulatoryAssessment (NSAA). I am encouraged by these initial results, which demonstrate that RGX-202 appears to be well tolerated and leads to robust mi- crodystrophin expression in muscle tissue. These are important early findings. EMBARK Agene transfer therapy study to evaluate the safety and efficacy of delandistrogene moxeparvovec (SRP-9001) in participants withDMD Delandistrogene moxeparvovec is a gene transfer therapy that uses a recombinant