View Full Version : PTC124: genetic disease treatmen in trials

Dr Mordrid
24th April 2007, 22:04
Another science post too important not to be in the open forum.

The FDA has granted fast track and orphan drug designation to PTC124. It enters the next stage of human trials in Q4 2007/Q1 2008.

Story Link.... (http://www.clevelandleader.com/node/1552)

PTC site link.... (http://ptcbio.com/3.1.1_generic_disorders.aspx)


Superpill PTC124 Could Potentially Cure 2,000 Diseases

Researchers in the United States have developed a mind-blowing new pill, known as PTC124, that could one day treat nearly 2,000 inherited diseases, including muscular dystrophy and cystic fibrosis. Even better yet, scientists believe that this new "superpill" could be available within just three years.

The way that the drug works is by forcing the body to ignore genetic mutations and produce normal proteins, rather than the mutated versions that lead to disease. In order for it to be effective, patients would need to take it for the entire course of their lives.

Following the promising results revealed in mice, PTC124 is already in the early stages of human trials. And if the trials go well, scientists say that it could be licensed as early as 2009.

PTC124 is unique in that it can correct mutations in almost 2000 diseases and illnesses. It doesn't just target one mutation, but rather, a whole class of them.

The pill is produced by PTC Therapeutics, and in a study published today in Nature Magazine, it shows that in mice with a mutation that causes Duchenne muscular dystrophy the drug starts dystrophin production and restores muscles back to full health.

24th April 2007, 23:59
I wonder if it would be effective against Multiple Sclerosis?


Dr Mordrid
25th April 2007, 07:40
MS is an autoimmune disease with suspected genetic components so who knows? I would imagine it'll be on the list of diseases tested, but in the trials they look to be concentrating on known truncated protein diseases.

25th April 2007, 09:33
I'm going to pose a question, and to fully get my point across it will be extreme, because leaving it subtle might not get that point across. I do not fully endorse the text below, but am writing it just to spark some conversation.

Aren't we just clouding the gene pool by doing stuff like this? I mean, look where evolution has got us. Pretty impressive IMO. And yet we are doing our best to go against natural selection. Diseases that may have died off in time will be kept around. It's the same as the "stupid people should not be allowed to breed" argument.

AIDS anyone?

On the other hand - maybe evolution has specifically brought us to these discoveries. Meaning we evolved into something that can cure itself.

Dr Mordrid
25th April 2007, 09:56
That kind of eugenics has been tried and found inhumane, at best :mad:

25th April 2007, 09:58
I'm not talking eugenics, I'm talking us preventing evolution from taking its natural course. (although my "stupid people" comment sort of was)

25th April 2007, 10:02
Eugenics is strictly controlled and selective - by man's own decisions - what I am suggesting is letting nature have its way.

25th April 2007, 10:29
Letting nature take its way may be for the better in a non-technological civilization, where sufferers of various inherited maladies present a drain on precious resources. In our technological civilization we have the resources and can afford the compassion to help those so afflicted survive and be somewhat productive members of society. If they reproduce and pass their genetic shortcomings to another generation, that's part of the price of living in a free society.

As our medical technology improves we find ourselves no longer at the mercy of natural selection and the culling effect genetic disorders have. Once we have the ability to diagnose and correct genetic defects in utero, we will have reached the point at which humans are controlling our own evolution instead of evolution controlling us.

We've barely cracked the seal on this can of worms. Old-school eugenics will seem like phrenology by the time this really takes hold.


Dr Mordrid
25th April 2007, 11:04
It's not just genetics but biomechanical augmentation, advanced forms of innoculation and enhanced senses. If we're careful it's a medical revolution. If not we become someting like the Borg, but prettier :p

25th April 2007, 13:31
It's not just genetics but biomechanical augmentation, advanced forms of innoculation and enhanced senses. If we're careful it's a medical revolution. If not we become someting like the Borg, but prettier :p

Hehe, we are the human race, you will be assimulated, resistance is futile :)

25th April 2007, 15:02
This IS an argument that Science Fiction authors have long pondered - where would evolution have eventually taken us, if we hadn't circumvented it?

See Stargate for several hypotheses...