
Trial shows Huntington's drug could slow progress of disease - callumlocke
https://www.theguardian.com/science/2017/dec/11/excitement-as-huntingtons-drug-shown-to-slow-progress-of-devastating-disease
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smudgymcscmudge
We have had hopes for HD treatments dashed many times before. It’s hard to not
be cynical, but this one seems like it could be the real thing.

Godspeed to everybody working on this...with an emphasis on the “speed” part.

~~~
WillReplyfFood
Imagine having huntingtons, a death sentence hanging over your life, over your
family and then suddenly- its cured, the door swings open, and a life you
never expected to have lies ahead. Go team humanity!

~~~
paulcole
To an extent this has happened with Cystic Fibrosis and HIV+ patients. Many
have trouble dealing with a future they hadn't prepared for and thought wasn't
going to happen.

Living longer is not automatically some magical gift.

~~~
dhimes
I like to think that we're in a golden era where most of these hideous
diseases are eradicated or at least made manageable in the next 25 years, with
the problem virtually solved in 100 years. Too late for me, but what a world
it will be then!

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ghkbrew
Does anyone have a link to a more technical description of this therapy? From
what I've found it's a small anti-sense RNA targeting the mutant huntingtin
gene. But I don't see a description of a delivery vehicle, or if there even is
one. The drug seems to have pretty big implications if it works, but I'll be
frankly amazed if all they had to do was inject the bare nucleic acid into the
CSF.

~~~
dghughes
This PDF from 2016 looks like it's discussing the trial for the drug
[http://huntingtonstudygroup.org/wp-
content/uploads/2016/05/H...](http://huntingtonstudygroup.org/wp-
content/uploads/2016/05/HD-Insights-
Vol.-13-CORRECTED_Retraction_FINALMay4.pdf)

~~~
Brakenshire
I followed those links through, and found this article discussing the effect
of injecting anti-sense oligonucleotides into mice:

[http://www.cell.com/neuron/pdf/S0896-6273(12)00444-8.pdf](http://www.cell.com/neuron/pdf/S0896-6273\(12\)00444-8.pdf)

> To determine the distribution and cellular uptake of antisense
> oligonucleotides (ASOs) delivered by infusion into the CNS, an antibody that
> selectively recognizes the phosphorthioate backbone of the ASOs (see Figure
> S2 A for additional saline controls from the various brain regions) was used
> to probe coronal sections from the olfactory bulb to the cerebellum (see
> Figure S2B for schematic of sectioning and dissections). Following a two
> week infusion of the HuASO into nontransgenic animals, ASO accumulation was
> detected in the neurons of most brain regions, including the frontal cortex,
> striatum, thalamus, midbrain, brainstem, and cerebellum, with the exception
> of dense regions of white matter and cerebellar granule cells (Figure 2 A).
> ASOs were also present in neuronal nuclei, cell bodies and neurites, as
> determined by colocalization of accumulated ASOs with the neuronal marker
> NeuN (Figure 2B). ASOs also accumulated in nonneuronal cells, including
> glial fibrillary acidic protein (GFAP)-expressing astrocytes (Figure 2B)

~~~
ghkbrew
Impressive. An important point here seems to be that these ASO's have a
chemically modified backbone which prevents degradation by exonucleases. But
the bases are un-modified allowing complimentary pairing and activation of
RNAse H activity. Even so, I'm surprised they're able to cross the cell
membrane in high enough quantities to have therapeutic effects. Apparently,
these techniques have been around since the mid-nineties or so. TIL...

