One of my greatest joys in revising my human genetics textbook is adding treatments for genetic diseases that have been FDA-approved since the last edition. The list has grown quite a lot since I finished the last revision as the pandemic finally faded away, and certainly since my gene therapy book was published in 2013. And so I was thrilled a few days ago when the father of a boy who had Menkes disease reposted my DNA Science blog from 2021, which described the rare disease, the clinical trial, and the family's participation.
The "new" treatment – many kids with Menkes have been part of the clinical trial for years – is a simple injection administered daily under the skin that delivers copper, which the body cannot process from food. It's not gene therapy, nor gene editing, nor magic – it is a sensible, decades-old strategy of finding a way around a biochemical glitch. Specifically, the drug Zycubo, aka copper histidinate, is a copper replacement therapy. Cyprium Therapeutics developed the long-awaited treatment.
To continue reading, go to DNA Science, where this post first appeared.