I just finished reading “Saving Ryan” by Emil Kakkis. Kakkis is a physician who pioneered enzyme replacement therapy for Mucopolysaccharidosis I (MPS I), a progressive and fatal disease. The story is about the patients and their families who struggle with the disease and Emil’s struggle to deliver life-enhancing therapy against terribly long odds. The Ryan of the book’s title is a kid with MPS I. His working class parents were not content to watch Ryan decline and die in his first or second decade. MPS I is an extremely rare disease, so big pharma sees no potential for return on investment for developing treatments or cures. Ryan’s parents start a foundation to raise money for a cure.
I seldom read lay science/medical books because they usually spend too much time explaining technical details that I already understand, and I find myself wincing at the imprecision and outright errors. This book avoids that pitfall, both by being scientifically sound and concise, and by keeping the focus on the emotionally gripping struggle to validate a therapy and get it approved by FDA regulators and into patients. The patients and their families were essential in generating the initial funding that enabled Kakkis to get proof-of-principle data using a dog model of MPS I. The reader rides an emotional roller coaster as Kakkis works through technical barriers, funding and personnel challenges, corporate critics and regulatory anachronism.
The publisher of “Saving Ryan” is Impositivity Media, which bills itself as “Impossibly Positive Stories.” Emil’s book certainly delivers, although during some of the bleaker sections, I had to remind myself that this has a happy ending. The writing is neither maudlin nor saccharine, but tells the story that connects at a human level.
The mark of a good book is that the reader finds themselves reflecting on what they read long after they put the book down. I’ll be doing that with “Saving Ryan.” I certainly recommend this book, both as a chronicle of clinical translational research and as an uplifting story in our cynical age.
Change a few words in this and you would be describing issues being detailed by supposed manufacturing pundits.
I cringe when i read their treatises. If you have been on the plant floor, dealt with the supply chain, matched inventor y to demand, what do you know?
Sounds like a good read on a trip to China. Thanks for the review.
A couple days ago was reading at another site about dispassionate but excellent German enterprises, like Lufthansa. Lufthansa is excellent, but not at all dispassionate. Anything but really, but mainly in positive ways. I worked with them pretty closely for more than a decade, but what do I know really?
You have not met the Japanese
Can funding be had through Orphan Drugs.
In principle, yes, for drug development and testing. I think Emil saw that path as too slow and uncertain. Ultimately, FDA approval proved rate-limiting.
Yes, and if there was more of it with a priority. I looked at the numbers afterwards. A pittance.
Emil also developed enzyme replacement therapy for MPSVII/Sly Syndrome, where there are even fewer patients than MPS1. With such expensive therapy and such a tiny market, there is no capitalist model. Pharma won’t see a return. The ability to do good outstrips the ability to commodify the good.
Hence the battle between the welfare of the people versus profitability and cost returns. Well, they do guarantee seven years of sales. This isn’t so much a conversation between you and I. Just passing info to the rest of the world too. Your knowledge depth is greater than mine. A good example of a hopeful Orphan Drug was Remdesivir which was on its way to be orphaned until greater usage for it was found in the treatment of Covid early on in treatment (<10 days).
"The FDA has “designated” Remdesivir as an Orphan Drug; however, it has not been “approved.” The designation allows Gilead the ability to start to track development expenses. Getting Remdesivir FDA approval as an orphan drug is another matter requiring actual clinical data derived from trials.
Initially, the drug approval typically happens four or five years after designation. It could happen sooner, after clinical trials, and given we are in the midst of a pandemic even sooner. While Remdesivir was designated as an Orphan Drug in 2014 as a treatment for Ebola. As of March 2020, an approval has not been granted for the treatment of Ebola."
Patent Protection vs Orphan Drug Market Exclusivity.