so far even gene therapy has not cured ALS. What we have in trials now is slowing with a few reports of improvement for sod1. Too early to expect clinical improvement in the c9 trial. Our hope is really prevention for our families not yet symptomatic and some mitigation for those affected.
there are a few things in pipeline for SALS including Nurown that may mitigate.
in the future the avenue of TD-P-43 looks promising for those forms of ALS where it is found. That is looking to be most- the big exception is SOD1. Are any of us going to go to clinic anytime soon and be told there is this great new drug that will save you ? No, though the less aggressive SOD1 variants may be there in a year or two
So, first let me say thank you for being. This is my first post, I wish I had something to offer. I saw your title and grasped. I have existed with ALS for three years now. I currently take riuzol 2x's daily, and monthly radacava infusions.
I'm not sure if they are what is keeping me alive.
@DeeDee unfortunately, welcome to the forum. riluzole is the drug that didnt keep you alive. radicava, scavanger, maybe. maybe it is variant of als, genetics or something third you should thank to. i am diagnosed in 09/17, but onset was FEW years before, beginning of 2015.
Welcome DeeDee. Statistically riluzole extends your life by 10 percent possibly more if you got it extremely early. Radicava in the study slowed things by 30 percent in the narrowly defined study group.
none of us really know how much we are being helped or by what. Here I am after 5 years on riluzole still doing reasonably ok. I think it helps ( so does my neuro) but neither of us can prove it
oh, sorry... there is one interesting thing about fals... i found a youtube film about gens. they mentioned fals, scientists studied genes (5m long list) for fals in family with fals. they dug a data and found that gene simply occured in grandpa. grandpa's parents and grandparents, although they have all dna from ancestors, there is no such a gene/mutation, which means that it suddenly appears.
i remember my father - he was 70 when his middle finger dropped. he died of completely other things.
all his brothers died young, so i dont know if i am sals or fals. is there a way to find out? i have 2 kids and sister (3 daughters, 30-35).
I wonder how they got the dna from that far back. There is also the possibility of misattributed parentage. De novo ( spontaneous) mutations do happen but are considered quite rare. a lot of so called SALS that have an autosomal dominant mutation turn out to have incomplete histories, early deaths and unreported histories that were probably FTD
we knew perfectly well we were FALS. My sister was the first to have an identified mutation in our family as c9orf72 was identified in late 2011. It only confirmed what everyone knew. She was the fifth in our lifetime to be affected I am 6th and we now have a 7th. you could ask for c9 testing. For someone like you without a definite history that is what would be offered in the US if you asked. About 7 percent of SALS in the US test positive for c9 though it seems as if a number later find family history that was unknown to them
that is what i thought. in general, all data related to als are "floating" - very different, except SOME raw sci data.
1. 2:100000? even same source states somewhere 2-7
2. fals are 5-10% ?? double? there is no known als history for some pals (me), so it must be higher percentage
3. app 15% people are diagnosed with als even they havent als, but some pals who have als are wrong diagnosed different (if i find percentage, i'll edit and correct my post)
4. no biomarker (i contacted mayo for p75 protein, they have no idea what i was talking about)
5. encals still study worms, nothing done except radicava. possibly will be nurown, but it is reserved for rich.
6. als is so agressive, so patients die before any complete trial
7. unity is the only way to fight als, but money rules. i donated 100 usd to...x... and in a 1 hour i got mails from "other" als fighters. guess why. my first and last donation.
according to mentioned above in a lines and between lines, it is impossible to collect data quality and do something serious.
far back? they didnt say, but it is not so far, and dna today is not hard to save or find. 20years-40years-60years-80years (grandgrandfather)
Autosomal dominant FAlS is about 10-15 percent. It is higher in Scandinavia and northern Uk because c9 almost certainly originated in Scandinavia And a little lower elsewhere. Everybody else( SALS )probably has a mild genetic susceptibility but requires multiple environmental triggers
there is considerable research being done on all levels in labs with mice, zebrafish pluripotent cells and other,and in clinical trials.
there are a number of biomarkers that are close to being validated.
there are absolutely patients who complete clinical trials. Most do in fact. The investigators try very hard to set criteria so that happens. Otherwise their data would be useless
as Dr Appel said in congressional testimony ALS is not incurable it is underfunded. Money does make a difference and researchers squeeze every penny. I was in a study where the staff was bringing in pens and other office supplies because they were on such a tight budget.
it is frustrating not to have answers now but it is not because people are not trying.
i was very interested in it when i read sci article which compares als feno and genotype... they did it in italy, south. what IS very interesting, all italians who looked almost the same had a few gene mutated, but italian who looked like scandinavian, had a different gene mutated, unique. nobody had it.. he was tall, fair hair and skin, you can not say it is italian. it is written in ncbi.
genetically, i'm 99% balkan, 1% askenazi jew (einstein was askenazi), for sure one of the most clear gens. neuro said that my als is very different from the others in my country. what we have in common is the end.
in my town there are app 10 pals including me. old and full of 100000 other diseases, they dont know what are dying of. dont use comp, cell... i am home alone. that's why i am here.
ill be honest: i'm sick, tired, sick&tired of such a life. waiting to die. everyday every face/man looks more and more like it is different species. i dont know anymore what to talk to people if i could. but i couldnt, so it makes me no problem that fact.