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Last Posted: May 31, 2023
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Muscular dystrophy gene therapy nears approval, but safety concerns linger Use of viruses poses significant risks and, for now, prevents retreatment if benefits fade
J Kaiser, Science, May 23, 2023

Because of a mutation in the gene for dystrophin, DMD patients lack functioning copies of the huge protein that serves as a shock absorber inside muscle fiber cells. Without it, muscle cells become damaged and gradually die. Patients usually end up using a wheelchair by age 12 and succumb to heart or respiratory problems by age 30. (Most are boys; the dystrophin gene is on the X chromosome, so girls have two copies and rarely develop DMD.) Existing therapies are only modestly effective.

Emerging Trends in Gene Therapy: Thalassemia as a Case Study
CDC Seminar— June 22, 2023, 2:00–3:00 PM ET Brand

Although relatively new in terms of clinical application, several gene therapy-based treatments have, in recent years, received approval from the Food and Drug Administration (FDA) and begun to be used in real world settings in the United States. In addition, clinical trials using either gene transfer or genome editing continue to show promise, with the potential to impact treatment for patients with a wide range of hereditary disorders in the future. This webinar will showcase thalassemia as a case example in emerging approaches in gene therapy.

The gene-therapy revolution risks stalling if we don't talk about drug pricing.
et al. Nature 2023 4 (7958) 629-630

Seventy years from now, the world might look back on 2023 as a landmark, as well. This year could see the first authorization of a therapy based on CRISPR–Cas9 gene editing, that involves tweaking the DNA in the body’s non-reproductive (somatic) cells. But gene therapies currently carry eye-watering price tags, putting them out of the reach of many who need them. High prices could diminish the willingness of government funders to pay for gene-therapy research. And that, in turn, would make it harder for research institutions to continue to attract top talent to the field.

Contributions from medical geneticists in clinical trials of genetic therapies: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
LDM Pena et al, Genetics in Medicine, April 9, 2023

As of December 2022, 5 gene therapy products have already been granted FDA marketing approval for rare Mendelian diseases in the United States, and several others have been approved outside of the United States. In the coming years, this list is expected to grow substantially given the number of products under development. Medical geneticists have expertise that supports unique roles in the development of new genetic therapies, before study initiation (Preclinical), during clinical development (Clinical Trial), and after marketing approval (LTFU). LTFU, long-term follow-up; SAE, serious adverse event.

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Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

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