Human Clinical Trials Underway for Fragile X Drug
December 9, 2008 by Kristina Chew, PhD
Filed under Health
Experimental drugs that are said to “correct” symptoms of Fragile X, Rett Syndrome, and tuberous sclerosis complex are now in early-stage human trials, the MIT Technology Review reports. The drugs reduce the activity of a receptor called metabotropic glutamate receptor 5, or mGluR5, and have previously been tested on mice, as reported in the June 25-29 issue of the Proceedings of the National Academy of Science. From the MIT Technology Review:
People with fragile X, the most common form of heritable mental retardation and a leading cause of autism, have a mutation in the FMRP gene, which normally inhibits protein synthesis stimulated by a receptor called metabotropic glutamate receptor 5, or mGluR5.
Last year, [lead researcher and MIT neuroscientist Mark Bear] and Gul Dolen, also at MIT, announced that they could correct abnormal brain development and faulty memory and reduce seizures in affected mice by decreasing mGluR5 activity by 50 percent. “The idea that you could reintroduce function is a sea-change event,” said Emanuel DiCicco-Bloom, a neuroscientist and physician at the University of Medicine and Dentistry of New Jersey, at the neuroscience conference.
Bear has founded a company, Seaside Therapeutics, at which human trials of one of the drugs are now underway. He also says:
“We may have our finger on a biochemical pathway that is applicable more generally in autism.”
More about the STX107, the “lead drug canditate, can be found at the Seaside Therapeutics website.
Great news.We all know the outrage this is going to cause when it hits the neurodiversity blogs and message boards.
Depends – please educate me. Would the improvements in functioning remain if the person were not taking the drug?
It’s interesting, definitely.
I wonder also if the researchers might be overstating the possible effects of the drug(s)?
It’s hard to tell. It sounds as though the medication would have to continue to be used, but don’t quote me on that. Looking at the antipsychotics and other that are often applied, I can see how it might be promising to have a medication that is more specific to cause than to symptoms.
Reading the descriptions of STX107, it looks like the first human trials would be in adults, and then if safety and efficacy are met, in children, or at least that seems to be the described projection. However it’s early days.
This could be helpful to some people with autism. It is “forward looking”, but then so was insulin at one time. Like with diabetes, PKU, Wilson’s Disease…it could have profound implications.
The drug shows remarkable promise for those with Fragile X. Autism has myriad of etiologies. It is an umbrella term. If the drug proves successful with Fragile X, and I say “God speed.”,
there is no guarantee it will do the same for autism in general.
One can but hope.
Hmmm…I was about to say I’d rather someone give their child something like this than subject them to chelation or other types of therapies that are claimed to “cure” autism but I’m not sure I actually would. Mayfly makes a good point and aside from the side effects this medication may cause I’m not sure it would be good to encourage people to spend even more money on a medication that might not work on their child at all.
Has anyone solidly made a connection between the protein problems within Fragile-X and any other cases on the spectrum that are not Fragile-X? Fragile-X is a 1 in 2000-4000 range occurrence and even then not all of them have symptoms that fit the ASD definitions.
I think mayfly is dead on in that this isn’t a drug that can be applied to autism in general, if there will ever be any that can. But it does show where the state of the art is in biology were we can bring this level of precision in influence.
Incidentally there is another drug somewhat like this being worked on at the University of Edmonton, but not nearly far along, that’s been effective at recovering long term memory in fruit flies after Fragile-X protein physiology was induced in them. http://www.nature.com/neuro/journal/v11/n10/suppinfo/nn.2175_S1.html I don’t have a subscription there but I gather that in that case they are concerned with stopping excess protein production. So it seems to be something different than the MIT work.
P.S. Note that, if I understand it correctly, there is an implication in what they are doing that if they could figure out a [safe] way to dose the fetus ongoing they could counter-act some of the Fragile-X effects from very near the beginning. But that’d be quite the feat I’d think. I doubt you could do it via the mother’s blood system, and poking around the womb at all is a very risky business. Just getting a genetic sample from the amniotic fluid is risky.
Here’s a local newspaper story that gives a rough overview of that U of A work.
http://www.canada.com/edmontonjournal/story.html?id=6a3f23da-9187-427b-9252-506f2fcddf8d
I did not say that the drug if successful would only help those with Fragile X, I said their was no guarantee that it would be effective on other forms of autism.
A year, perhaps more, there were stories about inhibiting an enzyme known as protein 21-activated kinease, and its effect on Fragile X during prenatal development
Roger has fallen prey to a stupid but pernicious strawman leveled at pro-neurodiversity autistic self-advocates and their allies.
If an intervention such as this mitigates impairments in people with Fragile X, that’s good, and saying so is not at all at odds with what pro-neurodiversity advocacy is all about.
The Occam’s razor here is whether an intervention mitigates true impairments, or simply makes people “look less autistic”. The former is truly worthwhile; time and energy invested in the latter are better spent making society more accepting of the aspects of autism that are not intrinsically disabling.
>> I did not say that the drug if successful would only help those with Fragile X, I said their was no guarantee that it would be effective on other forms of autism.
Oops, sorry. I missed the word “likely”, as in “isn’t likely”.
At least I’d hope someone would have been looking at this specific biochemical location in the general autistic population (and this drug seems very specific in it’s action) and finding any sort of connection would be BIG NEWS to say the least. The hope is really better placed in looking for things like this and the tech being somewhat transferable.
The xperimental drugs that are said to “correct” symptoms of Fragile X, Rett Syndrome, and tuberous sclerosis complex are now in early-stage human trial.the MIT Technology Review reports more informative for Drugs canditate…..