
Fasciculations in Amyotrophic Lateral Sclerosis - JPLeRouzic
https://padiracinnovation.org/News/2020/09/fasciculations-in-amyotrophic-lateral-sclerosis
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pvaldes
Hum... ok, let me digress...

If there is an observable change in nerve terminals by proliferation, and
neuron grow ratio is slow but (I assume) constant and known, could we "go
back" in time and estimate an interval of time when the fasciculation started?

(Could support/reject the theory of an previous event that triggered the
disease like a neurotoxic poison or so)

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JPLeRouzic
Thanks for your post,

Yes I suppose it is possible in theory, but as in the first phase described in
the article, surviving motor units are taking in charge junctions of the dying
motor units, so the disease is invisible.

There are many theories about what causes ALS, most are borrowed from other
diseases and some may reflect our thinking processes: We need a single cause
for our comfort. But there may be no single cause of ALS, and perhaps no
causal chain at all.

Actually it could be simply that when an upper motor neuron is stressed the
disease is named ALS, when it is a neuron in substancia nigra it is called
Parkinson, and when it is in the cingulate gyrus (and mostly in lobes) we call
it Alzheimer.

But actually it is a story about neurons that are dying in the brain.

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tbronchain
Thank you for bringing HN community's awareness about SLA.

My mum has been struggling with SLA since January and now at an advanced
stage. As a reminder, there is currently no treatment and patients are told
there is no revert back and that what's gone will always be.

In addition to express a second time my gratitude to anyone working on the
topic or just bringing public awareness about it, I wanted to mention a few
things about the current situation for people suffering from that or any
severe disease/rare disease potentially:

\- Covid is making everything extremely challenging. Hospitals and doctors
seem to be overwhelmed and communication/examination is very slow or
difficult. I really hope that, despite the risks and consequences of the
pandemic, we don't forget other diseases are still here and people are
suffering from them.

\- She lives in France and not in a metropolitan area (somewhat close to
Paris). When the only hospital able to receive people affected with the
disease is not responsive, there is no alternative. We wish some private,
specialized hospitals or medical center could assist her when needed.

\- We have very little to none information about the current research and
trials about the disease. We would be very grateful from any good source of
information (for patients and helpers) - thanks to this discussion, Jean-
Pierre I have just bought your book which I think will help with this point.

\- ALS is extremely distressing and devastating for both the people sick, but
also helpers and family. It mentally affects in ways we couldn't imagine
before and I wish psychological support wouldn't be opt-in.

\- Admin work around the disease is mind boggling. Luckily my dad has been
able to retire and exhaust himself between personal care, day and night, and
admin non sense. It really shouldn't be.

We are very left alone when facing the disease and patients don't know where
to look. It has been a reminder to be grateful for the moments we are able to
live with our loved ones.

Additionally, I have a solid dev background and if there is any project on the
topic I could join and help to improve the research or any of the pain points
mentioned above, please contact me.

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JPLeRouzic
Thierry,

Thanks for your kind post.

I am sorry that your mother has SLA. Keep hope, not all ALS cases are similar,
some are less frightening than the textbook ALS.

In France as in other countries there are ALS centers or ALS clinics. I hope
that your mother's neurologist discussed about exams at the most convenient
SLA center [0 -1]. Unfortunately and as recounted by "Agence Régional de
Santé", patients' outcome is better in "CHU" than in other French hospitals.

At the moment there are two drugs, Rilutek and Edaravone. Make sure your
mother got also Edaravone, it was not prescribed to my uncle. And as
Herodotus38 told in another thread there are encouraging results from a
clinical trial about AMX0035, a combo of two common drugs.

In a few months we will have the results about Arimoclomol from which I expect
really good news, and also about Nurown, a new kind of therapy.

All those drugs do not heal but at least they buy time.

Jean-Pierre

[0] [https://portail-sla.fr/liste-centres-labellises/](https://portail-
sla.fr/liste-centres-labellises/)

[1] [https://www.encals.eu/centres/](https://www.encals.eu/centres/)

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tbronchain
Thank you Jean-Pierre for taking the time to answer.

She is followed by the CRC SLA Paris/Salpêtrière. The center has been closed
march-june as it was given to Covid patients and since then they seem to be
struggling.

She's been put on Riluzone, she asked for other drugs but she got told there
is none - we have never heard of Edaravone before, thanks for advising and we
will look into it.

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Herodotus38
Interesting article, the direct link to the paper is:
[https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7425399/](https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7425399/)

ALS is a difficult disease, both to detect early and obviously to treat. This
paper is looking for a biomarker to try and detect it earlier and as a way of
measuring the course of the disease. I watched my grandfather fade away from
it, thankfully after a full life, so it's something I've experienced and
wondered about

As a tangent, there was a recent trial of a new therapeutic agent with modest
benefit published in the NEJM.
[https://www.nejm.org/doi/full/10.1056/NEJMoa1916945](https://www.nejm.org/doi/full/10.1056/NEJMoa1916945)

And accompanying editorial:
[https://www.nejm.org/doi/full/10.1056/NEJMe2021144?query=rec...](https://www.nejm.org/doi/full/10.1056/NEJMe2021144?query=recirc_curatedRelated_article)

Both are paywalled (the abstract is available in the first) unless you
subscribe to NEJM or know your way around these kinds of things.

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JPLeRouzic
Thanks for this post.

I looked at your website [0], those two cancer survival calculators are very
interesting. While not being trained in biology or medicine, I did something a
bit similar for ALS [1].

Jean-Pierre

[0] [https://www.predictsurvival.com/](https://www.predictsurvival.com/)

[1]
[https://padiracinnovation.org/en/ALS/](https://padiracinnovation.org/en/ALS/)

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Herodotus38
Thanks, yeah what our site does is basically let you quickly fill out a bunch
of models that have been validated to give predictions for advanced cancer
where the eventual outcome is more or less certain but to help people best use
the time they have left it can help to get a general sense of how much time.
Nothing is perfect but if they all seem to agree it can help people plan. It’s
something that helps me when patients or family members want to know. I like
to program as a hobby so it’s fun that way too to build things.

I’m glad to see others doing work to bridge the gap between the research and
things patients and clinicians can use.

How are you deciding which areas of medicine to focus on?

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JPLeRouzic
Sorry if I misunderstand you, English is not my native tongue. I have no
intention to study medicine as I am a retired engineer. However I followed a
master class in bioinformatics at a local university and several Coursera
classes (Neuroscience and system biology).

ALS is specially interesting for me as two people in my step family died of
ALS. So there is a suspicion of familial ALS but nobody decided to be tested
and under French laws genetic testing for ALS is a complicated process.

Ideally I would like to design a computational model of ALS. I tried a few
years ago [0], before I realized the complexity of the disease.

In the mean time I try to improve public ALS understanding by publishing
roughly every 4 days an article about a scientific publication.

[0]
[https://github.com/Hjertesvikt/ALS_model](https://github.com/Hjertesvikt/ALS_model)

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Herodotus38
I admire your commitment trying to tackle this, especially trying to come up
with a model for the disease. There needs to be more intersection of medicine
with engineers to advance things for patients.

John-Patrick, a fellow JP

