It is well-recognized that our commercial drug development process, a process that has led to so many nearly miraculous advancements, serves people with rare diseases poorly. Kate Edwards’ experiences are ones that I could not have guessed were possible.
I am very sorry for your child. It must have been a great challenge. There are great daily unknown heroes, and you are one of those. Thank you for your example.
Genuinely believing in what I've said, I'm not sure if that is so easy. I also wish all the drugs you've mentioned will prove improving patient-oriented outcomes. Unfortunately, I believe the only real way of knowing that at the time I'm writing is through RCTs. I don't think the right your (and others) child have to the drug have to prevent the RCT being done. There's a way. For example, through pragmatic RCT. We've done it, RECOVERY was (and is, still running with other adaptive arms) an example. FDA could re-orientate it's resources to those really needed RCTs and not to many other futile studies, like lecanemab and infinite boosters.
I disagree with you. This is not an FDA problem, or really a RCT problem. Any thought leader in pediatric epilepsy or rare disease specialist could throw together an RCT for liraglutide. Dravet would be an easy choice.
As someone who is not in this field at all, what is the difference between the claims you make about new gene therapies and mRNA vaccines? For example, I hear the claim that mRNA vaccines have been studied "for decades" (in vitro .......... .. . .. . . ... do people really want me to think scientists are honest here?) but the pandemic provided the opportunity for people to accelerate the drug development manyfold.
How would what you propose look different than how the mRNA tech was foisted upon folks versus new gene therapies? We have decades of data you say, but how many RCTs? Would it take some kind of crisis-opportunity and the right profiteers at the right time to get these done? Would you be okay with people skipping out on basic science because you'd trust the evidence for these therapies and they MIGHT be better than e.g., lithium?
The main obstacle to developing drugs for unusual and infrequent disorders is, as usual, government regulation. Get rid of the FDA and every other government agency that regulates medical care. There should be no such thing as "off-label" use. No adult should be required to have a doctor's prescription; any individual may choose to consult with a doctor or not. I would also take issue with the statement that our commercial drug development process has led to so many nearly miraculous advancements. Many, if not most, of the drugs with the greatest efficacy for the most people were discovered by accident. The current setup incentivizes pharmaceutical companies to come up with more expensive versions of drugs to treat more common disorders. Anyone doubting this just needs to watch a couple of hours of television and count the number of different drugs advertised to treat psoriasis. They have also become adept at inventing "diseases" such as attention deficit disorder, obesity, and many others.
THANK YOU for writing this Kate, and for sharing it with Sensible Medicine. This is so very important and so very well written. I feel your family's pain and frustration, and am hoping along with you for change. 🙏🏽❤️
Wow. Just wow. I cannot fathom how clueless people can be to see what this family is dealing with and even have one thought of asking them to organize and fundraise for their child’s condition. If this is not a huge indicator for problems in a system, then nothing is.
On 29 May 2024, FDA released draft guidance for Platform Technology Designation Program for Drug Development. So new gene therapies may be more available in the future. I think the economics have changed and now large companies might profit in selling ultra rare gene therapies.
This is exactly why so-called integrative medical doctors are in demand. Because they know how to breathe without proof. Two golden rules when there are no satisfactory answers:
1. Stick with nutraceuticals as they are in general way safer than pharmaceuticals and they are typically pleiotropic. It's simply a superior class of materials overall. Thank you patent-based medicine for keeping us sick.
2. Start one thing at a time. Stop one thing at a time. And always ramp the dose to observe for side effects.
Once you "have a hit", start and stop it 3 or 4 times to rule out confounders and disabuse oneself of placebo effects. And now you saved years and millions of dollars to create research that shows something doesn't work, or that it does work in someone that there is no clue if it generalizes to you.
Note lithium fits the above model well. Many naturopaths would do some amount of lithium in the first few visits for mystery neuro problems.
I have long since been convinced that the paradigm of evidence medicine cannot keep up with the evolution of chronic diseases and until people recognize the wisdom in "robust empirical treatment" (i.e. throwing things at a wall until something sticks), medicine is doomed.
Absolutely agree as I indicated in my comment above. I forgot to include elimination of patents as another part of the solution. Unfortunately, most people seem to be deathly afraid of a free market in medicine. Your robust empirical treatment is exactly what the free market is all about and is the surest and quickest path to useful discovery.
I am very sorry for your child. It must have been a great challenge. There are great daily unknown heroes, and you are one of those. Thank you for your example.
Genuinely believing in what I've said, I'm not sure if that is so easy. I also wish all the drugs you've mentioned will prove improving patient-oriented outcomes. Unfortunately, I believe the only real way of knowing that at the time I'm writing is through RCTs. I don't think the right your (and others) child have to the drug have to prevent the RCT being done. There's a way. For example, through pragmatic RCT. We've done it, RECOVERY was (and is, still running with other adaptive arms) an example. FDA could re-orientate it's resources to those really needed RCTs and not to many other futile studies, like lecanemab and infinite boosters.
I wish the best for you and your child!
Thank you for the well wishes.
I disagree with you. This is not an FDA problem, or really a RCT problem. Any thought leader in pediatric epilepsy or rare disease specialist could throw together an RCT for liraglutide. Dravet would be an easy choice.
As someone who is not in this field at all, what is the difference between the claims you make about new gene therapies and mRNA vaccines? For example, I hear the claim that mRNA vaccines have been studied "for decades" (in vitro .......... .. . .. . . ... do people really want me to think scientists are honest here?) but the pandemic provided the opportunity for people to accelerate the drug development manyfold.
How would what you propose look different than how the mRNA tech was foisted upon folks versus new gene therapies? We have decades of data you say, but how many RCTs? Would it take some kind of crisis-opportunity and the right profiteers at the right time to get these done? Would you be okay with people skipping out on basic science because you'd trust the evidence for these therapies and they MIGHT be better than e.g., lithium?
The main obstacle to developing drugs for unusual and infrequent disorders is, as usual, government regulation. Get rid of the FDA and every other government agency that regulates medical care. There should be no such thing as "off-label" use. No adult should be required to have a doctor's prescription; any individual may choose to consult with a doctor or not. I would also take issue with the statement that our commercial drug development process has led to so many nearly miraculous advancements. Many, if not most, of the drugs with the greatest efficacy for the most people were discovered by accident. The current setup incentivizes pharmaceutical companies to come up with more expensive versions of drugs to treat more common disorders. Anyone doubting this just needs to watch a couple of hours of television and count the number of different drugs advertised to treat psoriasis. They have also become adept at inventing "diseases" such as attention deficit disorder, obesity, and many others.
THANK YOU for writing this Kate, and for sharing it with Sensible Medicine. This is so very important and so very well written. I feel your family's pain and frustration, and am hoping along with you for change. 🙏🏽❤️
Wow. Just wow. I cannot fathom how clueless people can be to see what this family is dealing with and even have one thought of asking them to organize and fundraise for their child’s condition. If this is not a huge indicator for problems in a system, then nothing is.
On 29 May 2024, FDA released draft guidance for Platform Technology Designation Program for Drug Development. So new gene therapies may be more available in the future. I think the economics have changed and now large companies might profit in selling ultra rare gene therapies.
This is exactly why so-called integrative medical doctors are in demand. Because they know how to breathe without proof. Two golden rules when there are no satisfactory answers:
1. Stick with nutraceuticals as they are in general way safer than pharmaceuticals and they are typically pleiotropic. It's simply a superior class of materials overall. Thank you patent-based medicine for keeping us sick.
2. Start one thing at a time. Stop one thing at a time. And always ramp the dose to observe for side effects.
Once you "have a hit", start and stop it 3 or 4 times to rule out confounders and disabuse oneself of placebo effects. And now you saved years and millions of dollars to create research that shows something doesn't work, or that it does work in someone that there is no clue if it generalizes to you.
Note lithium fits the above model well. Many naturopaths would do some amount of lithium in the first few visits for mystery neuro problems.
I have long since been convinced that the paradigm of evidence medicine cannot keep up with the evolution of chronic diseases and until people recognize the wisdom in "robust empirical treatment" (i.e. throwing things at a wall until something sticks), medicine is doomed.
Absolutely agree as I indicated in my comment above. I forgot to include elimination of patents as another part of the solution. Unfortunately, most people seem to be deathly afraid of a free market in medicine. Your robust empirical treatment is exactly what the free market is all about and is the surest and quickest path to useful discovery.