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Haemophilia A trial results 'mind-blowing'

bbc.com

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Re: Haemophilia A trial results 'mind-blowing'

#111

Post by brokencode »

kgwgk wrote: post #105
MBCook wrote: post #102

Earlier quoted context omitted.

But for an insurance company, the ROI on curing someone’s hemophilia may be very very large. On the more consumer side of things, being able to fix some sort of obnoxious but perfectly survivable condition that genetic engineering may be able to solve (say lactose intolerant) may be something that you could sell to a lot of people.

From the POV of an insurance company, the patient might go elsewhere in a few years and they would only partially benefit from a cure.

Surely an insurance company would prefer that the patient go elsewhere rather than have to pay $100,000+ every year on treatment. Even if they lose a customer, at least they don’t have that enormous expense.

Re: Haemophilia A trial results 'mind-blowing'

#112

Post by torbjorn »

One of the reasons haemophilia appears to be more treatable by gene therapy (than other diseases) is because the cells that should be producing the clotting factors are found in the liver. When virus carrying the gene therapy enters the blood it is collected by the liver's filtration mechanisms, conveniently aggregating the gene therapy in the tissue that the gene therapy is targeting.

It is hard to target gene therapy toward specific cells/tissues but the liver makes targeting haemophilia with gene therapy easier.

Re: Haemophilia A trial results 'mind-blowing'

#113

Post by djsumdog »

todd8 wrote: post #50
soperj wrote: post #33

Earlier quoted context omitted.

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.

Brown, green, hazel eye colors are variations in the amount on melanin in the iris. This amount can change as one gets older. Babies can have lighter eyes that become darker. Blue eyes are believed to be caused by an isolated, inherited gene, OCA2. This gene is present in all people that have blue eyes. It disables the production of melanin in the iris. All blue eyed people are believed to have a common ancestor from…

huh. So where does the dominant/recessive traits we learn about in high school play into that?

I ask because my niece had blue eyes as a baby. This didn't make any sense because my sister was Indian, our parents were from India, their parents were from .. well I guess now it's Pakistan, but they migrated during the partition.

My sister married a white dude, but still it seemed very unlikely her daughter wouldn't have brown eyes. That's when we found out my grandmother got her education in Europe, and came back pregnant. Apparently divorces at the time were so shameful that it was better to tell your child their parent died.

My nieces eyes are now a bit hazel/blue-green ish. My grandmother passed away not too long after that, and that secret would have died with her, if it wasn't for the fact that my niece had blue eyes.

Re: Haemophilia A trial results 'mind-blowing'

#114

Post by djsumdog »

tialaramex wrote: post #77
ericb wrote: post #64

Earlier quoted context omitted.

Is the virus transmissible?

The study did not look at whether family members or other close acquaintances ended up containing measurable numbers of copies of the virus. The patients were tested and the study verified that the (altered) genetic data from the virus was excreted normally. The virus was deliberately defective and unable to replicate, so the copies made for use in treatment are the only copies that would ever exist. This also ensure…

Is there any concern that viruses could mutate and once again start to replicate?

Re: Haemophilia A trial results 'mind-blowing'

#115

Post by linkmotif »

toblender wrote: post #79
toblender wrote: post #36

Science bitches.

I really wish they had a confirmation screen for comment submitting, or a way to delete comments :P

You can delete comments. Can you not? I delete things all the time. But then again, I just voted yours up :)

Re: Haemophilia A trial results 'mind-blowing'

#116

Post by Nomentatus »

djsumdog wrote: post #113
todd8 wrote: post #50

Earlier quoted context omitted.

Brown, green, hazel eye colors are variations in the amount on melanin in the iris. This amount can change as one gets older. Babies can have lighter eyes that become darker. Blue eyes are believed to be caused by an isolated, inherited gene, OCA2. This gene is present in all people that have blue eyes. It disables the production of melanin in the iris. All blue eyed people are believed to have a common ancestor from…

huh. So where does the dominant/recessive traits we learn about in high school play into that? I ask because my niece had blue eyes as a baby. This didn't make any sense because my sister was Indian, our parents were from India, their parents were from .. well I guess now it's Pakistan, but they migrated during the partition. My sister married a white dude, but still it seemed very unlikely her daughter wouldn't have…

Not sure where your question comes from - one common ancestor could nonetheless have had a recessive trait (though selection for it might not kick in until it was visible.) It's not directly relevant, but I might mention there are many sorts of genetic combos/phenotype patterns, not just plain recessive and dominant.

Re: Haemophilia A trial results 'mind-blowing'

#119

Post by fgimenez »

aaavl2821 wrote: post #67
fgimenez wrote: post #62

Earlier quoted context omitted.

I sincerely think we are in the gene therapy renaissance. Delivery has always been an issue, but there are new tricks coming out with regard to cell-specific targeting. We can piggy back off the work done for RNA-based therapeutics (mRNA, ASOs, RNAi). As for the CNS - Voyager therapeutics has had some great readouts in September in gene therapy for Parkinson's. More data coming out in Q1 to see second part of study.

i agree, the hemophilia data looks really good, and avexis' spinal muscular atrophy product looks great as well. i dont know much about voyager but just looked at their press release for the study; looks like they are delivering a gene to increase dopamine production? do you know if this could be a disease altering therapy or just a "better" levodopa? its still pretty hard from what i can tell to deliver oligos to sp…

Yes, you could frame the Voyager treatment as "better levodopa". Though, the mechanism would feasibly mitigate neuro-degeneration and improve the terrible dose escalation of the drug.

Also correct about general delivery difficulties. Hadn't heard of Biontech's method - almost sounds like voodoo by your description.

I think there is interesting blocking and tackling happening on an organ-by-organ basis. E.g. GalNAc for liver hepatocytes, LNPs for systemic mRNA therapies, direct injection for eye or CNS (cheating, but still works). I'm partial to exosome hype...

Also no such discussion is complete without saying CRISPR, but the point remains that you can conjugate it targetted vehicles like antibodies. Conjugating to antibodies seemed to work for Stem :p

Re: Haemophilia A trial results 'mind-blowing'

#120

Post by pdm55 »

pdm55 wrote: post #42

Another use of a modified virus is to deliver an antibody to VEGF, the factor that causes macular degeneration (blindness). Prof. Elizabeth Rakoczy has been recently awarded the 2017 CSL Florey medal for this work. http://www.aips.net.au/news-events/the-florey-medal/2017-pro... The video has a cartoon showing the modified virus being inserted in the retina. I think 40 patients have been successfully treated in a init…

Some figures: I got my "every second month" injection of Eylea this morning, https://www.macular.org/eylea-injection-treatment. It cost $800 Australian dollars. Under our health scheme, I get $600 back. The guy beside me in the waiting room has been having injections for 17 & 1/2 years, that is, since the year 2000. He gets state-assistance to fly down 800 km to our capital city from the country. The lady across the aisle from me in the packed waiting room, has a relative drive her down from a regional town every second week, as she has macular degeneration in both eyes, with the alternate eye being treated on alternate visits. I give you these cases to illustrate that a lot of money is being presently spent on treating this disease. I have heard the incidence of macular degeneration in Australia described as an epidemic. Obviously, everyone would like a cheaper, longer-lasting treatment. That's what I am hoping the modified-virus treatment provides.

The figure that jumps out of the page for me in the modified-virus report, http://www.aips.net.au/news-events/the-florey-medal/2017-pro..., is "This therapy has been licensed to US company Avalanche Biotechnologies Inc., which has raised over $400 million to progress the treatment through clinical trials and bring it to market." This figure of US$400 million takes my breath away. I note one of Prof. Rakoczy's clinical trials in Australia on 32 patients was done with a AU$370 thousand grant, among others, https://demo.ands.org.au/long-term-follow-gene-therapy/10789.... I guess the US$400 million trial will be more extensive. This means a few more years will have to go by before this comes to market (if it indeed does).

I have found an open source article about Prof. Rakoczy's trial, https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5161436/. I note they removed the vitreous humor to place the modified-virus under the retina (termed a vitrectomy), recording that "It is not yet clear if subretinal injection can be done safely without vitrectomy". They seem very pleased with the results of that phase 2 trial.

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