AI tool helps find life-saving medicine for rare disease

Medical Xpress / Perelman Schl of Med at the Univ of Pennsylvania / New England Journal of Medicine ^ | Feb. 5, 2025 | David Fajgenbaum, MD et al

[ConservativeMind]

After combing through 4,000 existing medications, an artificial intelligence tool helped uncover one that saved the life of a patient with idiopathic multicentric Castleman's disease (iMCD). This rare disease has an especially poor survival rate and few treatment options.

Researchers used an AI technique called machine learning to determine that adalimumab—a monoclonal antibody which is FDA-approved to treat conditions ranging from arthritis to Crohn's disease—was the "top-predicted" new treatment that was likely to work for iMCD.

David Fajgenbaum, MD decided to try this TNF inhibitor for the first time in an iMCD patient.

"The patient in this study was entering hospice care, but now he is almost two years into remission," said Fajgenbaum.

The process of using an existing drug for a purpose other than its initial intention is called drug repurposing.

Fajgenbaum has iMCD himself and, through his research, found his own life-saving, repurposed treatment more than a decade ago that has kept him in remission since.

The AI platform, used in this study, was built upon pioneering work by study co-authors Chunyu Ma and David Koslicki.

The patient described in this study was heading into hospice care because multiple treatments had failed him over time.

Idiopathic multicentric Castleman's disease is a cytokine storm disorder. Cytokine storms are characterized by an exaggerated and harmful response by the immune system in which too many inflammatory cytokines (proteins in the immune system that play a role in the ways cells communicate with each other) are released and can damage the body's tissues and organs.

Those with iMCD can, as a result, experience swelling of the lymph nodes, inflammation throughout their body, and life-threatening multi-organ failure.

The study's patient had experienced many of these issues until he was treated with adalimumab.

[ConservativeMind]

AI found that adalimumab could work well against Castleman’s disease—well enough that 100% of those who tried it are in remission ever since.

[ConservativeMind]

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[ClayinVA]

I’ve talked to the people that sell the software for this. $50K annual license then you have to buy the computer hardware and setup the software to run the tests. You can run it on something that fits under your desk but you really want to running a few rack of these servers in a good air conditioned data center with backup generator.

I told our PHD’s, we would need about 1/2 million in budget and 3-6 months before we started the first run in the first rack. Also, they should hire a Computer Science Intern/Junior to run the code for it.

That is when they told me the Phase I only had $50K in it. I laughed and went back to my regular job.

[montag813]

Did they put their methodology up on GitHub? Would love to try it with a relative of mine.

[telescope115]

I have been critical of AI, only because of its potential to do harm at the hands of evil or incompetent people. I’m glad it’s in the right hands doing good things.