It is strange times as I watch House MD series for first time
Unfortunately this discovery is coming a little late for 13
Came here looking for the 13 reference. She (fortunately?) is the only reason I’ve heard of Huntington’s.
Huntington's disease treated for first time
101–110 of 133 posts
Re: Huntington's disease treated for first time
#102(non-expert) This is promising but needs publication and expert review. Here's the actual company statement from today: https://uniqure.gcs-web.com/news-releases/news-release-details/uniqure-announces-positive-topline-results-pivotal-phase-iii There's also a June 2024 article: https://www.cgtlive.com/view/huntington-disease-gene-therapy-nets-rmat-designation That explains a bit more: (1) neuro-surgery introduces gene…
If the approach works, wouldn't this also be really good news for other progressive generic disorders?
Huntingtons is not unique but certainly notable because it is caused by repeat sequences and therefore uniquely suited to mRNA silencing in this manner. There are very few other progressive (and I presume you also mean neurological) conditions, but also applied to the rest of the body, where this is the pathophysiology. For example, currently there is no immediate expansion of this to ie Parkinson’s (different pathophysiological basis) Lewy body (although maybe?) alzheimers (again possibly depending on whether it is tau, amyloid beta or simply ‘type 3 diabetes’) and nothing whatsoever for vascular dementia or ALS
Re: Huntington's disease treated for first time
#103One of my mom's best friends when I was a kid had Huntington's. She was a few years older than mom, and her sons were a few years older than my brother and I. One of them chose to get tested. The other chose not to. I remember thinking that was foolish, but I was seven years old. In retrospect, it's strange that a seven-year-old was privy to such things.
I completely understand why someone wouldn't want to get tested.
There are several episodes of House M.D. that deal with this. Hadleys, one of the doctors, mom had Huntingtons and house hounds her to get tested. She doesn't want to get tested. Really great set of episodes.
I can completely understand how knowing/not knowing would change how you approach life.
Re: Huntington's disease treated for first time
#104Earlier quoted context omitted.
Why does it have to be delivered through brain surgery?
The major hurdle of current gene therapies is delivery to the tissue where the defective gene product is causing damage. For instance lipid nanoparticles are only being used to deliver gene therapies to the liver, because if you inject them they just end up there and not much anywhere else. In this case they are using an virus called "adeno asociated virus 5" (AAV5), which does not naturally infect the brain AFAIK. T…
>AFAIK there are no viral or other vectors that consistently infect all brain tissue when injected/ingested
Rabies?
Re: Huntington's disease treated for first time
#105Earlier quoted context omitted.
[flagged]
> No, it's not sad that you need to justify the use of public money. You don't ask your plumber which computer network you should build for a fortune 500 company for the same reason I don't ask a computer programmer how to fix leaky pipes. People who study in an area actually have much stronger basis for having opinions rather than keyboard warriors who are upset that there mythological studies have been debunked tim…
I'm glad you think that! Because a panel of experts at the CDC has determined this should be studied: https://www.politico.com/newsletters/weekly-new-york-health-...
You don't disagree with the experts, do you?
Re: Huntington's disease treated for first time
#106One of my mom's best friends when I was a kid had Huntington's. She was a few years older than mom, and her sons were a few years older than my brother and I. One of them chose to get tested. The other chose not to. I remember thinking that was foolish, but I was seven years old. In retrospect, it's strange that a seven-year-old was privy to such things.
I chose not to get tested when the test was new. I still haven’t, but I feel confident I dodged the bullet based on my age vs my relatives’ age of onset. I used to wonder if I could take the news of having HD. Now I wonder how life would have been different knowing for sure I don’t have it.
How did you live differently knowing it was a possibility? It must have always been a shadow lurking nearby?
Re: Huntington's disease treated for first time
#107What part of this discovery was made thanks to NIH and/or NSF funding from the USA, or the NIHR in the UK? I don't ask to strictly bring up politics, but instead to try and address the broad lack of understanding of how medical breakthroughs like this are made. It's not done just by drug companies. The article says: > UniQure says it will apply for a licence in the US in the first quarter of 2026 with the aim of laun…
There's little money to be made with HD. It's a 1 in 30,000 disease. There's been little reason for anyone other than state sponsors to support its treatment. Add this to the reason's to be disgusted by capitalism. Spoken as a widower of an HD wife.
I do research into neonatal diabetes, which is a 1 in 100,000 genetic disease. We're entirely state and charity funded. We have had a grant for many years to do genetic analysis on anyone from around the world who fits the criteria (diabetes under six months age) and who can send in a blood or DNA sample. It's a good model, and now more than 90% of patients with neonatal diabetes get their genetic diagnosis.
Re: Huntington's disease treated for first time
#108Combine that with the fact that it's gene therapy delivered via neurosurgery, and you're looking at a major leap in both biotech and clinical application
Re: Huntington's disease treated for first time
#109(non-expert) This is promising but needs publication and expert review. Here's the actual company statement from today: https://uniqure.gcs-web.com/news-releases/news-release-details/uniqure-announces-positive-topline-results-pivotal-phase-iii There's also a June 2024 article: https://www.cgtlive.com/view/huntington-disease-gene-therapy-nets-rmat-designation That explains a bit more: (1) neuro-surgery introduces gene…
Even getting any objective signal in a disorder like Huntington's is huge, considering how bleak the landscape has been. But yeah, expert review and more transparent data (especially on those control comparisons) are essential before we celebrate too hard.
Re: Huntington's disease treated for first time
#110Huntington's is among the best candidates for a genetic cure: well known gene and mechanism, definitive pre symptomatic diagnosis, slow progression. But I am still reluctant. It's phase 1/2 (ie exploratory) and the phase 3 is the hard part that takes many years. Also it's disease slowing not stopping.
Huntington's should be low-hanging fruit for gene therapy, at least in theory: monogenic, fully penetrant, good biomarkers, and a long diagnostic runway