This is fascinating! I wonder if something like this could get the pancreas to begin producing insulin. Type I Diabetes is no joke. It could save tens or hundreds of millions per year, not to mention multiple injections per person per day.
Haemophilia A trial results 'mind-blowing'
31–40 of 132 posts
Re: Haemophilia A trial results 'mind-blowing'
#32Earlier quoted context omitted.
Thanks for sharing! Can I ask what considerations went into your decision? Will you be pursuing this now that there is more evidence that it's effective?
I mean, obviously I regret it now, but at the time I had no idea it would work. I'm sure the next trial will be extremely oversubscribed! I think my trial was actually for a low dose version to test safety of the vector and it didn't have any clinical effects. Its quite incredible though, there's only a few thousand people in the UK with haemophilia - this trial just cured like 0.5% of them
Would you mind keeping us updated if you pursue the next clinical trial? Happy to kick in Patreon money for your time. (Not a wierdo, just deeply interested in Curing All The Things).
Re: Haemophilia A trial results 'mind-blowing'
#33What a fantastic gateway to show how gene therapy can completely resolve diseases. Many diseases are as simple as your eyes being brown vs blue - you simply have or lack particular proteins. I couldn’t find it on a cursory reading, does anyone know what vector they used to achieve liver sinusoidal cell specificity? My understanding is that many gene therapy studies have used blood cells, which can be pulled out of th…
Doesn't make much sense when my eyes were blue as a kid, but now are green except for a quarter of one eye which is brown.
Re: Haemophilia A trial results 'mind-blowing'
#34So what was the actual therapy? That kind of title reminds me of BuzzFeed.
Yeah I apologize, I should've linked to a more informative article.
From another news release:
Investigational SPK-8011, a novel bio-engineered adeno-associated viral (AAV) vector utilizing the AAV-LK03 capsid, also referred to as Spark200, containing a codon-optimized human factor VIII gene under the control of a liver-specific promoter, is being studied as a potential one-time gene therapy for hemophilia A. It is the second investigational hemophilia gene therapy to emerge from Spark Therapeutics’ leading gene therapy platform. Spark Therapeutics retains global commercialization rights to SPK-8011.
We infused a single-stranded adeno-associated viral (AAV) vector consisting of a bioengineered capsid, liver-specific promoter and factor IX Padua (factor IX–R338L) transgene at a dose of 5×1011 vector genomes per kilogram of body weight in 10 men with hemophilia B who had factor IX coagulant activity of 2% or less of the normal value. Laboratory values, bleeding frequency, and consumption of factor IX concentrate were prospectively evaluated after vector infusion and were compared with baseline values.
You read the paper from the New England Journal of Medicine here: http://www.nejm.org/doi/full/10.1056/NEJMoa1708538
Re: Haemophilia A trial results 'mind-blowing'
#35Earlier quoted context omitted.
> the microbiome is what will typically unlock those diseases or not given the gene set If true, that would be a Nobel-worthy finding. I don't think this is true, but do you have a citation supporting this for the "typical" genetic disease?
I’ve heard reports that changing out a microbiome has resulted in a few bald people regrowing their hair.
If you've "heard it", but you can't recall where, you should absolutely not believe your own claims. Either find the source again, or concede that you might have made it up. Because you are the easiest person to yourself to deceive into thinking something that isn't true.
Re: Haemophilia A trial results 'mind-blowing'
#36Science bitches.
Re: Haemophilia A trial results 'mind-blowing'
#37Earlier quoted context omitted.
Thanks for sharing! Can I ask what considerations went into your decision? Will you be pursuing this now that there is more evidence that it's effective?
I mean, obviously I regret it now, but at the time I had no idea it would work. I'm sure the next trial will be extremely oversubscribed! I think my trial was actually for a low dose version to test safety of the vector and it didn't have any clinical effects. Its quite incredible though, there's only a few thousand people in the UK with haemophilia - this trial just cured like 0.5% of them
What wonderful news for you. I understand your caution. Now your whole life will be changed. Some people are so brave.
Re: Haemophilia A trial results 'mind-blowing'
#38Science, it works bitches.
Re: Haemophilia A trial results 'mind-blowing'
#39This is fascinating! I wonder if something like this could get the pancreas to begin producing insulin. Type I Diabetes is no joke. It could save tens or hundreds of millions per year, not to mention multiple injections per person per day.
The issue in Type 1 Diabetes is autoimmune destruction of the islets of Langerhans, so the therapy would need to target the immune system.
Re: Haemophilia A trial results 'mind-blowing'
#40Earlier quoted context omitted.
>Many diseases are as simple as your eyes being brown vs blue - you simply have or lack particular proteins. I think the other half of this is the microbiome. I have been speaking to physicians about leaky gut recently and a great analogy is the protein genes are like a piano and the microbiome is like the musician. As you suggest the genes/piano is sort of the hand you are dealt (you have the gene for certain diseas…
> the microbiome is what will typically unlock those diseases or not given the gene set If true, that would be a Nobel-worthy finding. I don't think this is true, but do you have a citation supporting this for the "typical" genetic disease?
Well I know without anyone reading or commenting on anything I link to I’ll be downvoted into oblivion for even trying to support conversations I’ve had with multiple physicians, still as a physician yourself I ask you to at least weigh in on the following...is it not true that while genetic mutations can be the sole cause of disease that most disease are triggered by a combination of genetics and environmental factors (i.e. not the same as a protein dictating whether you have brown or blue eyes)? To my point re the microbiome google points to multiple studies including but not limited to:
> Here are just some of the health conditions that involve our microbes: Acne Antibiotic-associated diarrhea Asthma/allergies Autism Autoimmune diseases Cancer Dental cavities Depression and anxiety Diabetes Eczema Gastric ulcers Hardening of the arteries Inflammatory bowel diseases Malnutrition Obesity
http://learn.genetics.utah.edu/content/microbiome/disease/
>Recent microbiome genome-wide association studies reveal that variants in many human genes involved in immunity and gut architecture are associated with an altered composition of the gut microbiome.
https://www.nature.com/articles/nrg.2017.63?WT.feed_name=sub...
>Researchers have discovered that a powerful guardian gene known to protect against a variety of autoimmune diseases, including type 1 diabetes, is triggered by the bacteria in our gut.
https://newatlas.com/guardian-gene-gut-bacteria-diabetes/511...