Good news...,

[Doug Carpenter]

....for SOD1 sufferers from the Sheffield tofersen stage 3 trials.

Doug

[denise]

I saw that. We wait for NHS approval.

[Patw]

if you have that gene biogen will provide it free of charge until the nhs prescribed it

[Doug Carpenter]

Also recent der Spiegel reports research progress on FUS patient.

Doug

[Andrew]

I contacted my MND lead coordinator just to see if this would be relevant to me as I was not clear if I had been assessed for SOD1. Reply paraphrased below:

SOD1 sufferers is circa 2% of MND patients and are those who have a notable family history of MND.
I have presented with Sporadic MND. There is no indication that this is inherited via the SOD1 gene.
So sadly I don’t believe that this drug / trial would be relevant for me.

[WheelsOfSteel]

SOD1 sufferers is circa 2% of MND patients

Yep, that's what I have read.
So it's for an "exclusiver" club within our already exclusive club
Hope it can help a few of our number though. Best of luck to those who get to try it.

[shelly21]

Its a big result to a few. Just want to keep us in the news. Great work from our scientists.

[Patw]

i have followed achris snow he has been on it 3years and nothing has changed he's doing amazing so I know it's only 2% but hopefully it is the beginning to great things

[Patw]

just remembered my neurologist saying too me that even though i have no family history I could be the start of it. I still haven't had the test

[WheelsOfSteel]

even though i have no family history I could be the start of it.

This is a terrifying prospect for me.
No family history - even with a father and an older brother with whom I share a great family resemblance (i.e. genetically very close) so I was initially reassured by that.
Not had the genetic test, but worried that if it shows something up that I would have to break to my two sons.

[Patw]

exactly why I have not done test. i don't want the guilt but now that they are getting closer i may change my mind

[denise]

Which reminds me Stephen has had 2 lots of tests and as yet no results. He has been told its not genetic but they wanted to do further testing for other indicators that might show up world wide. We decided to tell our children if the results showed they could be at risk because we thought it would help if preventative medication was available at some point. It's all very nerve wracking.

[Jen70400]

For people who are hesitant o test genetically because they are worried if something is found they would have to tell their children. Yes it would be hard nd a terrible shock but if there is something it is helpful to know. If they are going to start a family it is now possible to avoid passing on a genetic mutation. More universally prevention is coming but in order to take advantage they need to know. Tofersen the drug under discussion is in trial right now for carriers. Finally it is quite common for SALS children to worry there was an unknown mutation testing is a gift to your family. Know
edge is power

[Claireflo]

In relation to the SOD1 gene, is this something that can be confirmed via a blood test? Whilst the chances are low I want to find out whether or not this could help Dad. We have a consultant appointment on Tuesday with the neurologist but she's so patronising so I need to find out more about it before we go.

[Jen70400]

It is a blood test. In some places it can even be a cheek swab. For family knowledge consider asking for a fuller genetic panel while you are at it. C9orf72 is much more common in European populations