Question for those with sporadic ALS

[Nikki J]

Were you tested at all for genetic defects? You would know this as it is a separate consent. It would not have been bundled in with all the other blood tests without your knowledge.

I am asking because my family defect c9orf72 has been found in 7 percent of SALS. Right now there is no different treatment of course but they are working on a gene blocking treatment that they hope to start trials on next year. They will obviously only be testing this on people with the defect but if you have it it does not matter if it is SALS or FALS.

C9 was only identified in late 2011 and the test became available in spring 2012. If I were a SALS person I would want to be tested. The neuros I have talked to are hop eful. This is antisense technology already used successfully for a rare form of cystic fibrosis

Best wishes
Nikki

 

[ottawa girl]

Thanks Nikki,

I will ask my neuro when I see him in August. Was not tested that I know of. Also, a friend is a cystic fibrosis lead researcher ( brain transmitter type research which is Greek to me) in San Diego. I'll ask him about this too.

 

[Nighthawk]

Dear Nikki J,

Unfortunately, I wasn't tested for this upon my ALS diagnosis in Dec. 2011.
I guess the Neuro was more interested on having another statistic for his records that anything else.

Although, since I have ALS Clinic appointment again this mid-August, I will request from him to be tested for this and will report back with whatever results I get.


Take care.


Carlos

 

[Nikki J]

Elaine and Carlos will be interested in what your neuros say both about testing and antisense.

Carlos I know you have had issues with your neuro unfortunately. In his defense though at the time of your diagnosis the defect had just barely been identified and no test was available until 2012. I suspect they had not yet realized the incidence among the SALS population either. It was of course identified as part of the FALS research. I also don't know whether gene testing is even now part of a SALS treatment plan. That is part of the reason I asked. Just so you know insurance may not cover. I had to pay for mine but of course I do not have the ALS diagnosis. C9 test alone (no other genes tested) a little less than 600

 

[Barbie]

My husband was not tested for any genetic defect either. If you had it, wouldn't you see ALS in past generations though?

 

[Nikki J]

Apparently not Barbie. As I said research has found c9 in 7 percent of SALS presumably a spontaneous mutation? Although there are probably cases where the FALS was not recognized due to early deaths etc. c9 is tricky too as it can show up as dementia with or without ALS and also progressive supra nuclear palsy which is sometimes misdiagnosed as my aunt's was for several years.
It is confusing for sure but if that 7 percent is accurate there are probably people here on this board that have it and do not know it. Now that a possible treatment is on the horizon it seems like something to find out? Of course the phase 1 trial will not be at therapeutic levels as they test safety first but who knows how each individual will react?

Best wishes
Nikki

 

[Txgirl]

I was not tested for the C9. I will certainly ask about being tested for it when I go back in Aug.

 

[debra6004]

I haven't been able to get genetic testing yet for ALS. My father had Parkinson's. My uncle has ALS type symptoms and was told 10 years ago he had it but also told a myriad of other things wrong with him. My aunt has neurological issues - primarily with swallowing and has been put on feeding tubes a couple of times. They are now saying she has MS. Back problems run on dad's side of family and about 6 family members had surgery on L4/L5. Didn't know this until after I had back surgery in May 2010. My doctor originally ordered testing for Hereditary Ataxia through Athena labs -- it came back negative with the probability that it would be unlikely I would end up in a wheelchair - yeah right. Anyway Athena apparently didn't get Blue Cross HMO approval before they did the test. I remember specifically talking with Athena about the cost (there would be none) and I was "lucky" I got under the program before they changed their procedures. Unfortunately, I didn't get a name. Now Athena has been billing me for $20,310. I called and they sent me paperwork that if I'm destitute, they can settle for about $5,000. Good luck with that - like getting blood out of a turnip. The doctor was going to send my bloodwork to get the genetic testing for ALS done but Athena had sent a pre-authorization for me to sign - stating they would need $60,000 in advance. The ALS clinic says Medicare will pay for testing. I won't be going on it until November.

 

[debra6004]

Also worried about my two daughters - both are having back issues and they are only 27 and 30. But if it is hereditary, would they really want to know?

 

[Nikki J]

60000! Yikes! Talk to your doctor about this for sure! I know when I talked to Athena and they told me the cost for c9 they commented it was one of their cheaper tests. But 60k! Wow! Maybe get tested for c9 and possibly sod1? Together they account for about half of all FALS and are the two that there are going to be targeted treatments first. Or possibly contact dr Traynor at NIH. He does a lot of FALS research and I think he might give results ( not all studies will tell you your genetic results). I sent blood already knowing my defect and there was something in te consent about being told if they found something.

About your daughters it is of course their choice about whether they would want to be tested. There is nothing we can do now to ward off ALS. Some people want to know for the sake of knowing for practical planning or so they can be part of FALS research ( I was all three reasons)

I just went to the Athena Diag nostics web page there is a link to Dr Bedlack talking about ALS diagnosis and also genetic testing. He also tells the Tim LaFollette black swallow story it always makes me cry!

 

[mbmurray]

When I was diagnosed in Jan at the GWU clinic, I did consent to this one gene test that they are conducting, but doesn't appear related to C9

Gene ID in ALS

Principal Investigator: Elham Bayat, M.D.

Status of Research Trial: Active, currently recruiting

Sponsor of Research Trial: The George Washington University

Description of Research Trial:

ALS is a neurodegenerative condition for which there is no cure. Treatments for ALS remain elusive, partly because the disease is phenotypically and genetically heterogeneous, and despite decades of research, the molecular pathogenesis remains unknown.

Some patients have mutations of a single gene, but there are an increasing number of causative genes, each linked to a small subset of patients. We hypothesize that newly developed next -generation sequencing technologies may be used to characterize the specific gene modifications associated with ALS, and to identify associated genes that have remained obscure.

The goal of this pilot project is to forge strong links between the very active GW ALS clinic, and newly emerging DNA analysis technologies recently available at the CNMC/GWU CTSA TTR (Translational Technologies and Resources) section. Neurologist at the GW ALS clinic will carefully phenotype ALS patients, and patient DNA will be analyzed with emulsion PCR( Rain Dance) and next-generation sequencing (Illumina HiSeq ; Pacific Biosciences). Selective patients testing negative for all known genes, yet showing symptoms suggestive of monogenic disorders, will then be characterized using whole-genome sequencing. This will lead to collaborative RO1 applications combining novel molecular diagnostic methods with studies of molecular pahogenesis and targeted therapeutics.

Patients will be screened for appropriateness to be included into the study and for obtaining the one-time blood specimen. The samples will then be sent to the genetic laboratory at the Children's National Medical Center.

 

[Nikki J]

That looks like an awesome study! It sounds like they tested for known defects (c9, sod1, FUS etc) then if none were found did complete gene sequencing searching for other defects that might be relevant. There was discussion at the Gleason summit about complete gene sequencing. They were saying in the future it might be possible to tailor therapy based on this and they wished it were financially possible to do sequencing on all patients. The doctor I saw at MGH mentioned it in passing as well.
Thanks for sharing and thanks for participating in the study!
Best wishes
Nikki

 

[debra6004]

Crazy, huh? I'm definitely not doing anything else until I go on Medicare. The USF clinic says that Medicare pays for genetic testing. I checked into the $20,000 bill with ALS, but doesn't sound like they can do anything about this one. I go back to clinic this Friday, July 12th, so I'll discuss everything with them at this visit.

 

[Nikki J]

In today's NEALS webinar Dr Cudkowicz talked about genetic testing c9 ( and she said it is 7-10 percent of SALS) and about the upcoming c9 antisense trial hopefully next year. They had a technical glitch halfway through but if they post it on the NEALS site in a couple of weeks anyone who is interested can hear her speak of genes biomarkers and what is happening with that research. The glitch came later in her presentation.

 

[Bad Balance]

Sporadic?

Man, I've got this stuff all the time