[HN Gopher] Huntington's disease treated for first time
___________________________________________________________________
Huntington's disease treated for first time
Author : _zie
Score : 394 points
Date : 2025-09-24 11:37 UTC (11 hours ago)
(HTM) web link (www.bbc.com)
(TXT) w3m dump (www.bbc.com)
| petesergeant wrote:
| More information on the approach:
| https://www.uniqure.com/programs-pipeline/huntingtons-diseas...
|
| > AMT-130 consists of an AAV5 vector carrying an artificial
| micro-RNA specifically tailored to silence the huntingtin gene,
| leveraging our proprietary miQURE(tm) silencing technology. The
| therapeutic goal is to inhibit the production of the mutant
| protein (mHTT)
|
| and the actual announcement: https://uniqure.gcs-web.com/news-
| releases/news-release-detai...
|
| > 75% slowing of disease progression as measured by Unified
| Huntington's Disease Rating Scale (p=0.003)
|
| > 60% slowing of disease progression as measured by Total
| Functional Capacity (p=0.033)
|
| > 88% slowing of disease progression as measured by Symbol Digit
| Modalities Test (p=0.057)
|
| > 113% slowing of disease progression as measured by Stroop Word
| Reading Test (p=0.0021)
|
| > 59% slowing of disease progression as measured by Total Motor
| Score (p=0.1741)
| basisword wrote:
| What do those progression numbers mean in terms of outlook? For
| example, if someone is treated before showing symptoms (as they
| know they inherit it) is the progression slowing enough to give
| them a normal life expectancy and quality of life?
| CookiesOnMyDesk wrote:
| It's covered in the article
|
| >It means the decline you would normally expect in one year
| would take four years after treatment, giving patients
| decades of "good quality life", Prof Sarah Tabrizi told BBC
| News.
|
| >The first symptoms of Huntington's disease tend to appear in
| your 30s or 40s and is normally fatal within two decades -
| opening the possibility that earlier treatment could prevent
| symptoms from ever emerging.
| didgeoridoo wrote:
| I don't think this quite answers the curiosity of whether
| starting treatment e.g. at birth would virtually eliminate
| morbidity, or whether it only slows the decline once it has
| started.
|
| Consider that the disease typically manifests in your 30s
| -- does this mean it would begin 4x later (and thus
| basically never manifest), or that your 15 year progressive
| decline from ~35-50 would take 4x longer (giving you a
| normal lifespan, albeit perhaps with some limitations in
| your later years)?
| sleight42 wrote:
| To me, as an HD widower, it would have meant that my dead
| wife would had lived until 2043 and had a decade more of
| a mostly normal life.
| bjornsing wrote:
| Why does it have to be delivered through brain surgery?
| JoshTriplett wrote:
| Guessing: bypassing the blood-brain barrier.
| adcoleman6 wrote:
| I'm assuming the viral vector can't pass the blood-brain
| barrier.
| bjornsing wrote:
| But it doesn't take 10+ hours to surgically get a virus
| across the blood-brain barrier, right?
| devilbunny wrote:
| The video specifies that the drug is infused over 8-10
| hours. Probe placement - again, as depicted in the video,
| because I don't see a real methods section - should take
| about 1-2 hours. The video isn't clear if this is
| interactive MRI or just a preop scan that is then loaded
| into a stereotactic navigation system in a regular
| operating room, but the former would add another hour at
| least. MRI is not fast.
| Sebalf wrote:
| 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. The blood brain barrier (basically just extra
| impermeable blood vessels), as well as other immunological
| features in brain tissue, evolved specifically to keep the
| brain as unaffected as possible from anything bad going on in
| the body, seeing as any infection/poisoning of the brain is
| varying degrees of catastrophic and would easily kill you in
| the ancestral environment.
|
| I don't know the details of why AAV5 in particular is their
| vector of choice in this case, but for whatever reason thats
| what they've gone with. AFAIK there are no viral or other
| vectors that consistently infect all brain tissue when
| injected/ingested, so maybe that's just the best option
| available. Anyways, it seems that in order to get it to the
| actual brain tissue that is damaged by the huntington protein
| (all of it? One particular area?), the best way is to inject
| it where it needs to go. If you could just pump it into the
| CSF that would perhaps make things a little bit more
| tolerable, seeing as you could then just do a spinal tap and
| inject it that way, but apparently that doesn't work. Or
| maybe a generalized AAV5 infection has more side effect then
| targeted injections. Just speculating here.
| bjornsing wrote:
| I guess it needs to get across the blood-brain barrier. But
| that shouldn't take 10+ hours of surgery, I don't think.
| mattkrause wrote:
| Surgery can be slow, and brain surgery doubly so.
|
| The brain is slightly elastic, so you'd want to advance a
| needle glacially slowly (microns/second) into it so it
| ends up at the right position. The injection itself is
| also done slowly (microliters/minute) so you don't cause
| pressure damage.
|
| They might also do some intraoperative imaging (some ORs
| have MRI or CT machines), which slows things down, and of
| course there's tons of cleaning and repair work
| afterward.
| jmcgough wrote:
| The brain-blood barrier typically only allows small, non-
| polar molecules to pass through into the brain, which
| complicates a lot of neuro/psych treatments.
| saretup wrote:
| What does 113% slowing mean? I thought if the speed is x then
| 80% slowing means the speed is now 0.2x
| nicoburns wrote:
| Perhaps it means the effects of the disease are actually
| reversed?
| tkfoss wrote:
| "The data also shows the treatment is saving brain cells.
| Levels of neurofilaments in spinal fluid - a clear sign of
| brain cells dying - should have increased by a third if the
| disease continued to progress, but was actually lower than
| at the start of the trial."
| sleight42 wrote:
| It always seemed that an mRNA treatment was going to be the way
| forward for treating HD, speaking as an HD widower.
|
| And here my government is actively working to suppress mRNA
| therapies because of fucking politics. Fuck them.
| AudiomaticApp wrote:
| This isn't an mRNA treatment. The m in mRNA stands for
| "messenger", not micro. mRNA covid vaccines don't mess with
| the genome anything like this treatment does, and indeed,
| this treatment is much more dangerous than any vaccine would
| be.
| qnleigh wrote:
| Thanks for sharing this information. Do you (or anyone else
| here) know if these trends might be expected based on how the
| treatment works? For example, given than the treatment is only
| injected into certain parts of the brain, could we expect that
| some aspects of the disease will be treated better than others?
| OskarS wrote:
| This is incredible, what a miraculous thing for sufferers and
| their families. Feels rare to see such a such an unquestionably
| good news story these days.
| tomrod wrote:
| Quick skimmed, is there a peer reviewed paper?
| mbreese wrote:
| I don't see one yet -- but the main people mentioned in the
| article have a long publication record on Huntington's. This
| trial has been going on for a while and this is an interim
| media report. I don't think they've reached an endpoint yet.
|
| I believe this is the clinical trial they are reporting on:
| https://clinicaltrials.gov/study/NCT04120493
|
| This trial also appears be open at UCSF...
| tomrod wrote:
| Awesome
| goatherders wrote:
| Wow. Just an incredible medical development
| karmelapple wrote:
| What 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 launching the drug later that
| year.
|
| That's true, but that doesn't talk about the tens to hundreds of
| research papers that have been published over likely decades to
| make this discovery a reality. And it doesn't talk about how much
| public money went into this discovery.
|
| Many people reading this article probably have a vague idea that
| more than just this company was involved, but I feel it is not at
| all clear to the vast majority of people, since the vast majority
| of people are not involved in biomedical research.
|
| I wish there was an easy way to figure out how many dollars, how
| many grants, how many researchers, went into achieving this
| breakthrough. And that the media would put that into news
| articles like this. Trace all the citations back a few orders,
| and I bet you'll find a massive number of NIH and NIHR grants.
|
| There is unfortunately not more massive, bipartisan public outcry
| in the US over defunding the essential basic research the NIH
| does... and it's not new to the current administration, since it
| was attempted to be done back in 2017, too [1].
|
| Scientists need better messaging or else we're going to stop
| having breakthroughs like this... and the breakthroughs are
| already going to slow down thanks to things like the $783 million
| in cuts to NIH grants that the US SCOTUS authorized in August
| [2].
|
| 1. https://pmc.ncbi.nlm.nih.gov/articles/PMC5468112/
|
| 2. https://www.scotusblog.com/2025/08/supreme-court-allows-
| trum...
| amelius wrote:
| It's standing on the shoulders of giants, and the one on top
| gets to reap all the benefits.
| mattkrause wrote:
| Even that quote is a bit of a disservice to modern science:
| it's a massive pyramid made of thousands and thousands of
| individual contributions, including many bits of deep
| background and outright "failures".
|
| Biology is tough in that you can't just "reason" your way to
| success; it often really does require trying something to see
| if an approach works.
| jmcgough wrote:
| > Scientists need better messaging or else we're going to stop
| having breakthroughs like this
|
| Sure, but it's really sad that scientists need to justify their
| funding to the public - they already spend so much time
| justifying it to the NIH and others for funding.
|
| So many people have had their careers jeopardized by finding
| pulled mid-project. I am really concerned about our research
| pipeline, because my post-doc friends are all applying to jobs
| outside the US now.
| mattkrause wrote:
| This is where the funders really ought to step up.
|
| A spokesperson from (say) NINDS really ought to be shouting
| to anyone who will listen about how excited they are to see
| their <many year>, <many dollar> investment in Huntington's
| pay off.
|
| I'd love it if they highlighted some of the especially
| "weird" studies that went into this to demonstrate how
| important _fundamental_ research is and how it goes in
| unexpected directions.
| drstewart wrote:
| >Sure, but it's really sad that scientists need to justify
| their funding to the public
|
| No, it's not sad that you need to justify the use of public
| money.
|
| Unless you think it's sad that the military needs to justify
| their funding to the public to get more. The military could
| have a $2 trillion dollar budget but people would ask "why!"
| when it clearly doesn't need to be justified. Agree?
|
| Here's another thing you'll no doubt agree on: we should fund
| science with no justifications - I say that we need a $100b
| invested into more research into the link between vaccines
| and autism. No justification needed, of course.
| conception wrote:
| You missed the second part of that sentence buddy.
|
| Your examples would match if every base commander had to
| write public messaging on their bases' budgets and
| projects.
| xphos wrote:
| > 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 time and time again. That's not science that is
| cult behavior. If you want to influence that decision
| process work in that field and provide justifications for
| that vaccine research and some new angle that's been
| missed. The American public is not a intelligent member of
| the medical community there opinion should not have the
| same weight in day to day operations as the medical
| community. They can allocate an amount we want to do
| research and should ask the NIH to do board research
| because that is effective and has an overwhelmingly strong
| record having done the background research for basically
| ever medical advancement made for a long long time.
|
| So, no I think we should allow a panel of experts to
| evaluate what is worth funding in research. Give the NIH a
| budget to hire a panel of field experts like they have been
| for a long time and fund research that panel says is worth
| it. Autism and vaccine linkage is studied and has been
| shown several times to have no strong correlation with
| vaccination. The idea we need to study that more is stupid
| and experts say it is stupid because it steals funding from
| actual research into other environmental factors that
| haven't been studied yet. Maybe its PFAS chemicals maybe
| its something else.
| zdragnar wrote:
| That's a fantastic way to fall victim to grift. Your
| "panel of experts" can easily be as biased as anyone
| else.
|
| When you give people vast authority on the basis of their
| expertise (even assuming the expertise is genuine),
| anything that challenges it becomes not a novel idea
| worth exploring, but a direct challenge to their
| authority.
|
| Planck's principle- that science advances one funeral at
| a time- is rather apropos here.
| oulipo2 wrote:
| I'm pretty sure some of it is direct funding by governmental
| agencies, but even if that wasn't the case, all the basis of
| the theory, and the groundwork was laid by researchers and
| universities using those grants. You need public money for a
| healthy society
| sleight42 wrote:
| 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.
| missedthecue wrote:
| I'm sorry to hear about the passing of your wife.
|
| How common a disease is doesn't have much to do with
| treatment efforts. Cystic Fibrosis has practically been cured
| by Big Pharma and only ~40,000 people in the entire US have
| it.
| pkaye wrote:
| That is because the Cystic Fibrosis foundation funded some
| of the research and drug development to make the first
| treatment possible. They had to essentially operate in a VC
| model to get the treatments that these CF patients need.
|
| https://www.cff.org/about-us/our-venture-philanthropy-model
| missedthecue wrote:
| Most disease categories have advocacy and funding groups,
| with varying amounts of success. The point is that rare
| diseases get new treatments all the time from private
| for-profit firms. In fact, orphan diseases are extremely
| profitable, and the FDA offers fast tracked approval
| decisions, making them an enticing niche to focus on.
| kulahan wrote:
| It really has nothing to do with capitalism. There are
| special grants in the US for researching rare diseases,
| specifically to ensure money isn't the barrier.
|
| As an aside because I'm pedantic about the language,
| apostrophes are _never_ used to show pluralism.
| jjtheblunt wrote:
| > apostrophes are never used to show pluralism.
|
| in Dutch they are for some words, e.g., 1 ski, 2 ski's. i
| have no idea how that arose historically.
| kulahan wrote:
| The Nords are a pox upon us all. TIL though, thanks - I
| probably should've been clear I only meant in English :)
| karmelapple wrote:
| I am scared that special grants to research rare diseases
| will go away, too.
|
| If we're trying to figure out what the most benefit for
| each taxpayer dollar is, then a rare disease won't win out
| over, say, cancer research.
|
| Someone may consider researching a rare disease as "waste,"
| even though to everyone including the previous poster who
| is a widow because of HD, it is far from a waste.
|
| When there is not much of a profit motive to do something -
| whether going to the moon or fighting a rare disease -
| public money is the best way to do it. And even throwing a
| fairly small percentage at it can create big achievements.
|
| And that's one reason I'd like to see how much money and
| time went into this. We might be surprised that it's fairly
| small in the grand scheme of biomedical research costs!
| melagonster wrote:
| We even do not need to calculate NIH grants; I am pretty sure
| that all databases that were used here are from NCBI. If there
| were no NIH, all research would be impossible in modern
| biology.
| stevenwoo wrote:
| The problem is the soundbite of some of these studies on the
| surface is ridiculous to lay people but even good studies with
| bad sound bites are used as weapons against science funding in
| the USA. The shrimp on a treadmill study is still used as
| argument against science funding today.
| https://www.npr.org/2011/08/23/139852035/shrimp-on-a-treadmi...
| privatelypublic wrote:
| I always thought the shrimp was a random meme. This is even
| better!
|
| My understanding is There's also studies of "duh!" Things, so
| theres a paper to cite instead of an assumption.
| caycep wrote:
| I think it is a UK study. It actually has been going on for a
| number of years, I've seen one of the PIs giving a number of
| big conference talks (Tabrizi) for a while
| siva7 wrote:
| Medical progress has been insane in the last few years through
| technological breakthroughs. It's not out of reach to think that
| most types of cancers will be curable 20 years from now on.
| calewis wrote:
| I think its like WW2, loads of amazing tech came from war.
| Covid was a bit like that for bioTech.
| singulasar wrote:
| Let's hope the defunding of medical research can stop so this
| can become true
| lawlessone wrote:
| it's great, it feels like the first mRNA vaccine opened a dam.
| ksajadi wrote:
| This is off topic, slightly but I think a good place to say this:
|
| I wish the media outlets would mention the fact that at least one
| of the scientists in this post is an immigrant in the UK. (in
| this case I'm not sure 1st or 2nd gen)
|
| In the current climate of anti-immigrantion rhetoric around the
| world, simple things like that might help a little with the
| perception of immigrants as freeloaders.
|
| Just a thought.
| mjburgess wrote:
| This seems helpful, but I think the misattribution of a general
| "anti-immigrant" sentiment to immigration detractors is part of
| the problem.
|
| Very few detractors in the west have any issues with highly
| qualified immigrants occupying scientific or research roles.
| Being opportunistic with which kind of immigrants one offers as
| Good is partly what's aggravating the issue. It's a radical
| kind of dismissiveness and denialism which is provoking people
| and ignoring their issues.
|
| The broad western detraction against immigration at the moment
| is targeted at specific waves of mass immigration with specific
| compositions that have specific effects on the places those
| immigrants have landed.
|
| People are primarily concerned about the ability of state,
| social and corporate institutions to absorb immigrants at this
| pace and scale without significant zero-sum effects. And, in
| addition, the significant amount of state support segments of
| those populations (eg., esp. asylum seekers) have to receive at
| a time when gov. are under inflationary pressures, debt
| pressures, etc. and cannot service their own welfare
| obligations.
|
| Going, "oh but we get good cancer research from immigration!"
| is so dismissive to these concerns, that the backfire against
| this messaging is one of the major contributors to people's
| disaffection.
|
| The idea that people need to be told that there are people who
| want to immigrate that are in our national interest to absorb,
| is just plainly absurd. This is uncontroversial and obvious.
| stinkbeetle wrote:
| This isn't addressing the main point of your comment, but a
| side issue:
|
| > Very few detractors in the west have any issues with highly
| qualified immigrants occupying scientific or research roles.
| Being opportunistic with which kind of immigrants [...].
|
| I'm not a detractor of any individual immigrant, certainly
| not a very skilled one. But I _am_ dumbfounded when I hear
| people say how wonderful immigration is "for the economy",
| "for the health system", etc., because we can lure all these
| bright people over from poor countries with offers they can't
| get at home.
|
| Like... Mozambique needs good doctors and nurses too. Sudan
| needs good engineers. Syria needs entrepreneurs.
|
| I don't begrudge the immigrant one bit for moving to get more
| money or a better life or whatever it is that motivates them,
| and they sure do contribute to the place they move to. But
| harvesting the best and brightest minds from poor countries
| on an industrial scale isn't something that sits too well for
| me at all. The merits and effects could be debated and
| disagreed, but it certainly requires much deeper thought than
| just the greed driven "good for my economy, good for my
| healthcare, good for me" type quips.
|
| I actually think of it as neocolonialism. The most valuable
| resource in this day and age is people, and wealthy countries
| are plundering the human capital from the poor ones like they
| did with resources in previous centuries. Throwing a bit of
| charity at them whenever the next outbreak or famine or civil
| war rolls around doesn't make up for it.
| lkey wrote:
| "Very few detractors in the west have any issues with highly
| qualified immigrants occupying scientific or research roles."
| Laughable, these 'few' reside in the highest seats of power
| and exist among the 'advisors' to the cabinet.
|
| "It's a radical kind of dismissiveness" People keep telling
| me I'm wrong in the wrong way, if they were nicer I'd
| consider their opinions. This is an irrational position to
| stake out, it should go without saying.
|
| "The broad western detraction against immigration at the
| moment is targeted at specific waves of mass immigration with
| specific compositions that have specific effects on the
| places those immigrants have landed."
|
| This is such a laborious way to say "poor, brown or both". Do
| you get tired of dancing around like this?
|
| "People are primarily concerned about the ability of state,
| social and corporate institutions"
|
| If you were actually "concerned", you'd advocate for
| punishing _institutions_ that use cheap (or 'free' if you
| steal their passport) immigrant labor, rather than targeting
| those that arrived to fill those positions. Do you have an
| understanding of why this never happens?
|
| It goes without saying that much of the 'specific immigrant
| labor' you despise is used to fill the welfare obligations
| related to care-taking that you are _also_ deeply concerned
| about.
|
| "dismissive to these concerns" I was assured that 'tone
| policing' was the domain of the 'woke', yet here it is a
| second time in the same comment.
|
| "uncontroversial and obvious." You might want to speak to
| your fellow travelers about _which_ are 'good' immigrants
| and which are 'bad'. It suffices to say that if they agree
| _in general_ , but disagree about which group is good, then
| it is not actually 'uncontroversial'.
| mjburgess wrote:
| I personally don't care about immigration. I have yet ever
| to be negatively affected by it, and have tended to find
| immigrants more pleasant than my own citizens. I'm more
| worried about our aging, obsese, immobile populations who
| arent breeding, and need 3-to-1 worker ratios to support,
| that we cannot provide. I am, personally, relatively open
| borders -- for at least that reason. I am more motivated by
| welfare demands and geopolitics, both of which benefit from
| larger active populations in our borders.
|
| However, what I want doesn't really matter. It's a
| democracy, and half of a country will not be ignored. You
| either listen and find some way to give them what they want
| in the least objectionable way; or they will take what they
| want, and take revenge on you for your obstinacy. They will
| do to you what you insist on doing to them: not listening
| to you at all as they enact the most extreme form of
| policies which they agree with.
|
| You speak as if your views express those of a powerful
| majority who will impose them on your detractors. This a
| dangerous power fantasy. The castle has been ransacked, the
| draw bridge is down, and you've no army left.
|
| You either draw up terms of surrender, or they will be
| drawn up for you.
| AnimalMuppet wrote:
| > The castle has been ransacked, the draw bridge is down,
| and you've no army left.
|
| Well, no, not that either. You're making the same mistake
| from the other side. The side you say has "no army left"
| _also_ is half the country. And _that_ half of a country
| will not be ignored either.
|
| Both sides demand to be listened to, but neither side is
| willing to compromise or to admit defeat, even
| temporarily.
|
| So I expect that power will continue to swap back and
| forth, that when in power both sides will do their best
| to implement their plans, and when they are out of power
| they will suffer the other side's vengeance for their
| obstinacy. I don't see it improving soon. I suspect we'll
| see at least another two election cycles of this
| viciousness.
| mjburgess wrote:
| Maybe. Certainly if detractors go to excess then they'll
| breed resentment from the supporters, and round and
| round.
|
| At the moment though, i think there's lots of people
| speaking as if it were 2022 and all of that ammunition
| has now been expended and the stores are bare
| eszed wrote:
| I'll point out that educational achievement and upward
| economic mobility in second-generation immigrants is
| generally excellent. That holds true regardless of their
| parents' education or income level.
|
| Over a longer view, accepting a construction worker now,
| because his daughter might cure cancer later, might be an
| advantageous bargain.
| Hasz wrote:
| I strongly disagree with this. While I am generally pro-
| immigration, injecting a political view into an article
| ostensibly about a new scientific discovery is how science
| loses credibility and objectivity. See the "trust the science"
| phrase weaponized during COVID in the US.
|
| Let people draw all the inferences they want about the origins
| of the scientists involved, but a hamfisted paragraph about a.b
| scientist being an immigrant from y country does not have a
| place here.
| whatsupdog wrote:
| Also it sends a message that only scientists are welcome as
| immigrants. There's millions of immigrants who contribute
| positively to the society, who aren't scientists.
| Supermancho wrote:
| > Also it sends a message that only scientists are welcome
| as immigrants.
|
| This is not a conclusion I would make without trying to
| make an anti-immigrant argument.
| ericmcer wrote:
| This is disingenuous.
|
| There has been a strong push back against illegal-immigration
| in the west. The media has completely reframed the discussion
| to "How can they be opposed to immigration" because if they
| said "how can they be opposed to illegal-immigration" their
| argument would fall apart pretty quickly.
|
| No one with a brain is arguing that immigration doesn't provide
| tremendous value.
| lawlessone wrote:
| >How can they be opposed to immigration" because if they said
| "how can they be opposed to illegal-immigration" their
| argument would fall apart pretty quickly.
|
| Isn't this also disingenuous? A significant proportion of the
| groups against immigration are against any immigration and
| have been floating trial balloons for "remigration" for non-
| white citizens.
| JetSetWilly wrote:
| I have a feeling this migrant didn't get off a dinghy with all
| the other engineers and scientists so probably isn't raising a
| lot of concern for most. Conflating "immigration is too high"
| with "anyone who thinks immigration is too high is a racist who
| thinks they are all freeloaders" doesn't work anymore, no
| amount of media propaganda will change that.
| jmclnx wrote:
| This needs to be said, with Trump's cutting of College Basic
| Research Funds, many of these great breakthroughs will occur in
| other Countries. The US is/was the lead in biotech, it is now
| giving up its lead. That means one of the US largest industries,
| employing many with high pay, will shrink, due to US policies. In
| a few years it may not exist unless funding is restored soon. I
| personally know people who's grants have been cancelled due to
| these cuts.
|
| But, glad to see other Countries funding their research. I wonder
| in face of one of the largest blunders made by the US, are they
| increasing funds ?
| sleight42 wrote:
| Even more: mRNA. Trump is trying to kill mRNA research because
| he sees it as tied to the politics of COVID.
|
| Good science is not political. Politicians making it so are
| idiots at best and evil at worst. See also "Hanlon's Razor"
| kennywinker wrote:
| There's another connection here, between trump and huntingtons.
|
| Folk singer Woody Guthrie wrote the song "old man trump" about
| fred trump (donny's dad), while suffering from huntingtons and
| living in a building owned by fred.
| sleight42 wrote:
| Tearing up at this.
|
| I lost my first wife to HD in 2013. She was one of the lucky few
| whose optimism and love of humanity stayed with her through to
| the end.
|
| If there is a God, I'll never accept it as "loving" as HD is as
| cruel a slow torture as it comes.
|
| EDIT: Also, a Trump NIH would never have done the years of work
| to lead up to this sort of treatment. They've been working to
| suppress mRNA-based treatments because of politics.
|
| Get your politics out of good science, you heartless assholes.
| kjsingh wrote:
| It is strange times as I watch House MD series for first time
| kennywinker wrote:
| Unfortunately this discovery is coming a little late for 13
| trallnag wrote:
| "If one of your parents has Huntington's disease, there's a 50%
| chance that you will inherit the altered gene and will eventually
| develop Huntington's too."
|
| Have they never heard of genetic diagnostics? For example with a
| combination of preimplantation generic testing and in-vitro
| fertilization you can prevent passing on known genetic mutations
| to the next generation.
| kennywinker wrote:
| While technically possible, that option isn't really available
| to most people. Tho I suppose 17 hour brain surgery with gene
| therapy is also not available to most people, so fair enough.
|
| Anyway, they're just describing the heritability of the disease
| there.
| senkora wrote:
| An optimal society would provide no-cost embryo screening and
| IVF to couples with the gene for HD, because that cost is
| certainly far <50% of the lifetime cost of living with HD in
| treatment costs, lost income, and lost QALY's.
|
| I hope that we can work towards such a society.
|
| (And of course this research is still worth doing to help the
| population who already have the illness)
| software-is-art wrote:
| Thats actually the case in New Zealand
| w10-1 wrote:
| (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-virus
| to putamen and caudate nucleus; (2) virus delivers gene that
| produces micro-RNA; (3) the micro-RNA blocks the messenger RNA of
| the bad gene, reducing bad protein production.
|
| The 2023 study is said to have 39 patients (BBC and their recent
| statement reports 29). The reported findings may be significant
| but seem small (e.g., low dose: 0.39 of 14.1 points). Earlier
| they reported composites from the Unified HD Rating Scale, which
| has the usual caveats for the behavioral and functional sub-
| measures (vs. the more reliable motor and cognitive). Today's
| statement instead focuses on the more objective measures instead
| of the composite.
|
| Earlier, high-dose responders reportedly didn't just stabilize
| but got better -- unclear how. The more recent findings report
| that the disability still progressed, but slowed relative to
| "propensity-matched" controls. (Note 4 of 10 controls opted to
| join the trial after 12 months.)
|
| Both mention improvement in NfL (neurofilament light chains),
| which is an objective but nonspecific (and highly variable)
| measure of the degree of neuronal decomposition. The statement
| quantifies this at ~8% -- unclear if this level is convincing.
|
| For such an invasive treatment for a slowly progressing,
| relatively rare disease, they're probably gathering and
| publishing data as fast as possible. The short-term results seem
| good, and it will be good to see long-term results over time.
|
| It's possible some effect seen is due e.g., to immune adjuvants
| or something else during the therapy, and I would want experts to
| review the propensity matching.
|
| I would be concerned that the micro-RNA produced either also
| binds with epitopes from other messenger RNA or induces some
| immune response. Remember, there's no reversal agent or half-life
| elimination for such genetic treatments.
|
| So: room for hope but also for caution.
| cogman10 wrote:
| If the approach works, wouldn't this also be really good news
| for other progressive generic disorders?
| meindnoch wrote:
| >Remember, there's no reversal agent or half-life elimination
| for such genetic treatments.
|
| Another virus that removes/breaks the inserted gene?
| vibrio wrote:
| The bane of most gene therapy research is lack of
| persistence. With how serious and morbid HD is, I'd guess
| patients will take their chances.
| lostlogin wrote:
| > In the UK, the NHS does pay for a PS2.6m-per-patient gene
| therapy for haemophilia B.
|
| A misleading data point. This group of people were treated so
| poorly by the state that something had to be done. I don't think
| this is setting a benchmark.
|
| https://haemophilia.org.uk/public-inquiry/the-infected-blood...
| Shortness8 wrote:
| Don't often comment on HN but have to point this out as a med
| student in the UK: the cost-benefit roughly works out for those
| in favour of giving the therapy when the alternative is a
| lifetime of coming to hospital 3 times a week for Factor IX
| infusions, and the additional cost of stays in hospital for
| bleeds/haemarthroses and the complications thereof. Of course,
| this also ignores the human cost, particularly the extra
| care/stress around avoiding cuts/bruises in every aspect of
| life. In this respect these gene therapies appear lifechanging
| for those who suffer from the disease. [1]
|
| I will also say I know the team who wrote the guidelines for
| use of these therapies. I believe they were mostly finished
| before the infected blood scandal became a big story. Politics
| didn't come into it.
|
| [1]: https://www.bbc.co.uk/news/articles/c4nnn51rdrzo
| ourmandave wrote:
| Has anybody thought about changing the name from Huntington's
| disease to after the lead person or team that found the cure?
| edm0nd wrote:
| Is that a thing that happens in the medical field?
|
| Are we going to rename Polio to The Bill & Melinda Gates
| Foundation?
| ourmandave wrote:
| Polio is short for Poliomyelitis, but I'd call it Jonas Salk
| disease.
| presidentender wrote:
| One 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.
| onionisafruit wrote:
| 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.
| tsoukase wrote:
| Huntington'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.
| missedthecue wrote:
| The FDA has already agreed that data collected from this trial
| could be used to support a future BLA, and UniQure said this
| morning they're moving ahead with the BLA. In other words,
| uniQure likely will not need to run another trial before
| obtaining FDA approval for AMT-130.
| idw wrote:
| The Science Media Centre (UK) has a round up of expert reactions
| https://www.sciencemediacentre.org/expert-reaction-to-announ...
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