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points by Abishek_Muthian 1 day ago | 0 comments
My wife lives with a rare form of Muscular Dystrophy - GNE Myopathy. It's a progressive muscle wasting disorder, eventually she will be bed ridden. Her parents (prominent biologists themselves) have dedicated last 25 years of their lives trying to find a cure for her through conventional science in vain.

If the work by Cody Trangbarger pays off and some how helps find a cure or at least halt the muscle wasting of GNE patients, then I will start to believe that AI is truly revolutionary and not a hyped up normal technology.

Rare disease research have always suffered from lack of funding as pharma companies don't have incentive to find a cure for small numer of patients when there are easier ways to make money from diseases which affect larger populations.

Interestingly AI companies seem to be desperate to prove the usefulness of their product and so for the first time rare diseases are getting the spotlight, I hope this works as I live with a rare disease myself.

[–] anthuswilliams 1 day ago
Pharma does often have some incentive to develop treatments for rare diseases. I worked at a startup where we spent years trying to advance a candidate with an addressable patient population of only 400 people. Such drugs receive favorable regulatory treatment from the FDA and the small number of patients is not a problem because pharma can still make its money by charging an exorbitant amount for the treatment. (Which is of course its own problem, but I'll resist the urge to digress).

The bigger issue is that those programs are riskier, largely because: a) the small number of patients makes it difficult to develop a clinical trial as it is so difficult to find patients to enroll. They have a range of comorbidities and other confounding factors that are hard to control for in such a small trial. And they are spread out geographically so you have to setup and qualify a lot more trial sites and potentially deal with concomitant manufacturing/delivery issues, multiple legal regimes, etc b) the trial itself is harder to develop because there may be no good clinically validated biomarkers you can use for efficacy endpoints. These means you fallback to universal biomarkers like the patient's subjective experience of pain and the rate of death/disability, which in turn means the trials take longer to run.

I'm optimistic that some of the recent moves in the space such as the FDA's Plausible Mechanism Framework for personalized treatments will help here. I see no reason why we can't have clinical trials with a single participant.

Anyway, I hope that Tranberger's work helps find something that will help your wife.

[–] Abishek_Muthian 1 day ago
I agree with your comment, I shouldn't have generalized all pharma. We also work with number of small pharma but the experience with big-pharma has been negative for rare-disease research and small-pharma are constrained in several ways.

I am not in U.S., but my govt. prefers to fund low hanging fruit w.r.t rare-disease i.e. those disease in which mechanistic details are clear and that has better probability of successful treatment; this ignores all those rare diseases which doesn't even have clear mechanistic details like GNE Myopathy.

After a long struggle, with help of corporate donors and a research institute we're now conducting a natural history study ourselves[1].

[1] https://www.gne-myopathy.org/