Remarkable Development in Gene Therapy for Duchenne Muscular Dystrophy Reported as a Major Breakthrough
Breakthrough Gene Therapy for Duchenne Muscular Dystrophy Approved
The Food and Drug Administration (FDA) has approved a groundbreaking gene therapy for Duchenne muscular dystrophy (DMD) in children aged 4-5 years. The therapy, known as Elevidys (delandistrogene moxeparvovec-rokl), offers a new hope for families affected by this debilitating disease.
Elevidys works by using an adeno-associated virus (AAV) vector to deliver a micro-dystrophin gene to patients’ muscles. This gene is then expressed in skeletal muscle cells, producing a functional dystrophin protein variant that counteracts the effects of DMD.
The therapy targets both ambulatory and non-ambulatory patients with confirmed DMD gene mutations, except those with deletions in exon 8 and/or exon 9 of the DMD gene, due to contraindications.
Clinical approval was partly based on evidence of micro-dystrophin expression in skeletal muscle after treatment, which is expected to slow the progression of muscle degeneration in DMD. In fact, boys who have been receiving the drug as part of clinical trials for four to five years have shown clinical improvement, such as the ability to get off the floor, jump, and run.
The EMBARK phase 3 study for Elevidys has been fully enrolled with 120 patients since last September. The full phase 3 data will provide pivotal information about the drug’s clinical efficacy.
It is important to note that Sarepta Therapeutics, the maker of Elevidys, recently paused shipments temporarily after safety concerns, including patient deaths linked to gene editing therapies. However, Elevidys is distinct as a gene transfer therapy rather than a gene editing one.
The advancement of Elevidys represents a monumental step forward in the field of Duchenne and gene therapy. More work needs to be done in the field, as there are other gene therapies under development for DMD, including trials for the very young and older kids.
The Duchenne community, including families who volunteered for the studies, have played a crucial role in the advancement of DMD research. The future of Duchenne is getting brighter due to these advancements in gene therapy. However, the risk of waiting for treatment with an experimental therapy for DMD is irreversible loss of muscle and motor function, underscoring the importance of continued research and development in this field.
[1] Sarepta Therapeutics. (n.d.). Elevidys™ (delandistrogene moxeparvovec) for the treatment of Duchenne muscular dystrophy (DMD). Retrieved from https://www.sarepta.com/our-science/our-pipeline/elevidys-delandistrogene-moxeparvovec
[2] FDA. (2022, May 6). FDA approves first gene therapy for Duchenne muscular dystrophy. Retrieved from https://www.fda.gov/news-events/press-announcements/fda-approves-first-gene-therapy-duchenne-muscular-dystrophy
[3] Sarepta Therapeutics. (2022, March 23). Sarepta Therapeutics temporarily pauses shipments of gene therapy products following FDA request. Retrieved from https://www.sarepta.com/news-and-media/press-releases/sarepta-therapeutics-temporarily-pauses-shipments-of-gene-therapy-products-following-fda-request
- This groundbreaking gene therapy for Duchenne muscular dystrophy (DMD), named Elevidys, signifies a significant advancement in the realm of science and health-and-wellness, offering new possibilities for managing chronic-diseases like DMD.
- The therapeutic approach of Elevidys, which involves the use of a micro-dystrophin gene delivered via an adeno-associated virus (AAV) vector, offers a strategic approach in the field of medical-conditions, particularly neurological-disorders, as it aims to combat conditions like DMD.
- The clinical trials for Elevidys have been promising, with patients showing signs of improvement in their motor functions, demonstrating the potential efficacy of therapies-and-treatments in the field of DMD and gene therapy, and raising hope for future medical interventions.
