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Last Posted: Mar 23, 2023
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Hemophilia A Gene Therapy - Some Answers, More Questions.
Lindsey A George et al. The New England journal of medicine 2023 2 (8) 761-763

Within a growing therapeutic armamentarium, adeno-associated virus (AAV)–mediated gene transfer of factors VIII and IX has been in clinical development for two decades. Thus far, the development of a gene therapy for hemophilia has been an iterative process, with future successes predicated on the investigation of unexpected observations from clinical trials to then improve the next generation of vectors.

Access to gene therapy for rare diseases when commercialization is not fit for purpose.
Thomas Fox et al. Nature medicine 2023 2

Despite promising preclinical and clinical efficacy data, hematopoietic stem-cell gene therapies for inherited diseases have not been widely adopted into clinical practice. Ultra-rare diseases such as inborn errors of metabolism and inborn errors of immunity are, as their names suggest, individually rare diseases, affecting <1 in 50,000 people. However, such diseases have a profound impact on the lives of many individuals because of reduced life expectancy or chronic progressive morbidity.

Perspectives on Evolving Gene Therapy for X-Linked Retinitis Pigmentosa.
Sabyasachi Sengupta et al. JAMA ophthalmology 2023 2

Management of retinitis pigmentosa and other inherited retinal dystrophies has progressively evolved toward gene therapy, especially after the first successful treatment using an adeno-associated viral vector (AAV8) with gene delivery into retinal photoreceptors. The recently completed phase 1 XIRIUS trial has expanded this gene delivery approach to a potential treatment of X-linked retinitis pigmentosa (XLRP), commonly caused by mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene.

What It’s Like to Learn You’re Going to Live Longer Than You Expected
DJ Lamas, NY Times, February 6, 2023

Molly was born in 1988 with cystic fibrosis, a genetic disease that leads to an early death from lung failure. But Ms. Pam is now 34. And thanks to a new drug that has revolutionized the treatment of this disease, she will likely live to celebrate her ??40th and even 50th birthdays. Her life expectancy has shifted drastically within her lifetime. It is a remarkable and complicated experience. And as science races forward with gene therapy and targeted cancer treatments that promise to turn terminal disease into chronic illness, it is also a lesson in what might be ahead.

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.