Familial ALS information

maxzero

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Hello all,

I try to make this short. So my mother had FALS which ran in her family. Her mother and mothers all sisters had ALS. I'm a male so I'm wondering does this maybe affect me in some point of my life? No members of my family that were males have had ALS. How does FALS inherite? Thank you for reading and for answers in advance.
 

Nikki J

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PALS
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None of the major FALS mutations exclusively affect women. Given your location your family is probably c90rf72 your chance of inheriting a mutation from your mother is 50/50. The good news is c9 is highly researched, a treatment trial is in progress and there are plans to do prevention trials once they find something that helps
 

maxzero

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Thank you for your answer. Ohh I see 50/50 chances. Well, I've heard that FALS comes to you in general in your 50's or 60's of age? Is this right?
 

Nikki J

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It depends on the mutation what the usual onset age is. The average for c9 is late 50s but it can start in midthirties though that is unusual.

your mother had 2 copies of the relevant gene one was presumably healthy and the other was mutated. You have an equal chance of inheriting the healthy strand instead of the mutated one. Your second copy came from your father who presumably had 2 healthy strands
 

Bob84

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Dec 12, 2019
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PALS
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I am the lucky 50/50 winner and I'm male. My Grandmother passed away from ALS when she was 65. I had the gene test and carry the c9. I was 53 when I first noticed symptoms.
 

Greerguy

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Mar 8, 2020
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2 things I am watching.
The AMX0035 trial. The Sodium Phenyl Burate seems to be good for the C9orf72 mutation
The BiiB078 Phase 2 trial that Biogen is running. They had to suspend the BiiB078 trial until the Covid19 thing stops.
Hopefully the FDA will approve the AMX0035 without going to Phase 3 . It would slow it down progression some
 

Nikki J

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biogen isn’t suspended everywhere. The cohort 4 was enrolled before and some people at least are getting their visits. The open label is also starting for those in the previous cohorts and I know someone whose screening visit and first administration visit are scheduled imminently This is in a fairly active covid area too. They aren’t enrolling new patients but they wouldn’t have been anyway because the cohorts fill as soon as they open. I am hoping that things will be ok enough by the time the next cohort is due that they can enroll them on time.

what they said in the NEALS webinar was that for treatment trials it was up to each site but the goal was not to disrupt treatment for people in a trial if at all possible
 

Bob84

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PALS
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I'm in the extension for Biogen/Ionis anti-C9orf72 oligo BIIB078 drug study. Now, I am definitely getting the drug.
 

saraflem

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Apr 27, 2019
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Lost a loved one
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Hi Bob84 - when you say your grandma had it did your parent have ALS? My grandma had ALS and now I’m wondering if I should be tested for a gene.
 
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