From Approval to Access: Why Muscular Dystrophy Needs Best Choice Medicine

“Having a child that is dying is the most painful thing in the world. The only thing that is more painful is having a child that is dying and having a drug that could help him, and not having access to it. It’s a crime.”

— Jenn McNary from The Right to Try

In 2023, the FDA approved Elevidys, a gene therapy for pediatric patients with Duchenne Muscular Dystrophy (DMD) aged four to five years (FDA, 2023).

While events like these are cause for celebration, they often come too late. Regulations designed to ensure safety can inadvertently delay access to life-enhancing or life-saving therapies for those in urgent need.

Pathways like Best Choice Medicine are crucial for the 250,000 people in the United States living with muscular dystrophy. To appreciate the impact of gene therapies, it’s important to understand the nature of muscular dystrophy.

Muscular Dystrophy (MD) is a group of inherited disorders, including Duchenne Muscular Dystrophy (DMD), Becker Muscular Dystrophy (BMD), Limb-Girdle Muscular Dystrophy (LGMD), and others. They are marked by skeletal muscle degeneration and progressive weakness. They are classified by mode of inheritance, clinical presentation, age of onset, and progression (Lovering, 2005).

Duchenne Muscular Dystrophy (DMD) is the most common. It affects 1 in 5,000 males in the United States. Onset occurs due to mutations in the dystrophin gene.

Dystrophin is a protein that protects muscle fibers from damage during contractions. Without it, muscle function and stability are compromised. Children become wheelchair-bound by age twelve, and almost always die in their thirties due to cardiac and respiratory complications (Elangkovan, 2021).

Even before the FDA approved Elevidys for limited use, gene therapy could claim a rich history in DMD. Genetic research on DMD led to the discovery of the dystrophin gene, providing a rationale for treating DMD with an abbreviated version of the gene (Duan, 2018).

The search for an effective gene therapy for DMD has gone on for decades, but has hit hurdles. The discovery of a highly functional protein, Δ17–48 mini-dystrophin, was a massive leap forward (England, 1990).

The therapeutic potential of mini-dystrophin has since been confirmed by a myriad of genotype-phenotype correlation studies in MD patients. Mice studies followed, yielding encouraging results. However, human studies were still in the wings (Duan, 2018).

Access to full-length sequences of dystrophin alongside an understanding of corresponding protein domains has let scientists remove coding sequences within the gene, with the goal of maximizing protein function. This has resulted in recombinant genes that encode many variants of mini and micro-dystrophins with therapeutic potential (Elangkovan, 2021).

By 2021, three clinical trials in the United States were testing different constructs of mini- and micro-dystrophin delivered via AAV vectors. In Europe, another study was ongoing since April 2021, where the first patient was dosed with the investigational gene therapy GNT 0004.

Clearly, more should be done to broaden the accessibility of these investigational interventions, as AAV microdystrophin gene therapy treatments can help all DMD patients — regardless of the specific mutations they carry.

That takes us back to Elevidys, which received approval through the Accelerated Approval Pathway, an FDA program for serious or life-threatening conditions. This pathway permits approval based on endpoints likely to yield clinical benefits, providing earlier access to promising drugs while further trials are conducted.

While this is another step in the right direction, it still does not expedite the process enough. Not only should vanguard therapeutics be available, they should be readily accessible.

This is why MD, like all diseases, rare or common, needs Best Choice Medicine. Best Choice Medicine came as a response to the limitations of the Right to Try Act. This act, which was passed only after a protracted battle, does not include newer and more precise gene therapies that are not already in clinical trials.

BCM aims to deliver medical advancements to billions of patients decades before current pathways allow. This will open the door to patients and companies to conduct studies based on patient consent, immensely benefiting all stakeholders.

If you want to learn more about BCM, how it differs from Right to Try, and what you can do today, please visit the website and read the white paper.

Sickness will eventually affect us and the ones we love. It is, for now, only a matter of time. One nearly universal affliction is age-related muscle loss, or sarcopenia. Far from merely aesthetic, this predisposes us to Metabolic Syndrome: insulin insensitivity, hypertension, high cholesterol, and obesity.

One way to stave this off is follistatin.

Follistatin-based gene therapy has not only shown promise by improving ambulation in Becker Muscular Dystrophy (Al-Zaidy, 2015); it increases muscle size and strength safely in mice and in primates (Kota, 2009).

It was one of the first two gene therapies taken by the World’s Most Genetically Modified Person, BioViva’s CEO and co-founder of Best Choice Medicine, Liz Parrish. A mother who began her journey in biotechnology on behalf of her child, Liz understands the frustrations parents have with the current system.

Those with debilitating and terminal conditions should always have options.

We should all have options, because eventually we will all need them.

Support the BCM initiative and sign the petition today!

References and Works Cited

Al-Zaidy SA, Sahenk Z, Rodino-Klapac LR, Kaspar B, Mendell JR. Follistatin Gene Therapy Improves Ambulation in Becker Muscular Dystrophy. J Neuromuscul Dis. 2015 Sep 2;2(3):185–192. doi: 10.3233/JND-150083. PMID: 27858738; PMCID: PMC5240576.

Commissioner, Office of the. “FDA Approves First Gene Therapy for Treatment of Certain Patients with Duchenne Muscular Dystrophy.” U.S. Food and Drug Administration, FDA, www.fda.gov/news-events/press-announcements/fda-approves-first-gene-therapy-treatment-certain-patients-duchenne-muscular-dystrophy. Accessed 11 Mar. 2024.

Duan D. Systemic AAV Micro-dystrophin Gene Therapy for Duchenne Muscular Dystrophy. Mol Ther. 2018 Oct 3;26(10):2337–2356. doi: 10.1016/j.ymthe.2018.07.011. Epub 2018 Jul 17. PMID: 30093306; PMCID: PMC6171037.

Elangkovan N, Dickson G. Gene Therapy for Duchenne Muscular Dystrophy. J Neuromuscul Dis. 2021;8(s2). doi: 10.3233/JND-210678. PMID: 34511510; PMCID: PMC8673537.

England, S., Nicholson, L., Johnson, M. et al. Very mild muscular dystrophy associated with the deletion of 46% of dystrophin. Nature 343, 180–182 (1990). https://doi.org/10.1038/343180a0

Kota J, Handy CR, Haidet AM, Montgomery CL, Eagle A, Rodino-Klapac LR, Tucker D, Shilling CJ, Therlfall WR, Walker CM, Weisbrode SE, Janssen PM, Clark KR, Sahenk Z, Mendell JR, Kaspar BK. Follistatin gene delivery enhances muscle growth and strength in nonhuman primates. Sci Transl Med. 2009 Nov 11;1(6):6ra15. doi: 10.1126/scitranslmed.3000112. PMID: 20368179; PMCID: PMC2852878.

Lovering RM, Porter NC, Bloch RJ. The muscular dystrophies: from genes to therapies. Phys Ther. 2005 Dec;85(12):1372–88. PMID: 16305275; PMCID: PMC4496952.

Miksanek, Tony. “The Right to Try: How the Federal Government Is Preventing Americans from Getting the Life-Saving Treatments They Need.” Booklist 112.4 (2015): 7–8.