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NothingButLove

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I got a call from the doctor at the clinic today. She reported the results were back from genetic testing. My wife has the defective C9orf72 gene. I have so many thoughts running through my head right now. I could create one big scatterbrained, disjointed post. It's probably best to tackle one idea at time. So...

Nikki J - What can you tell me? Clinical trials / research targeting C9orf72? Are you and my wife related through a very distant viking from Finland? :) I've watched the video from Ohio State University "A Users Guide to Genetic Testing in ALS" so I understand the ramifications of the results. My ultra basic understanding of C9orf72 is that there is a repeat expansion in the intronic section of the gene.

My brains are scrambled right now... I can't focus.

Just a little background on my wife. She first started showing symptoms in January, 2016. She had just turned 57 at the time. She was diagnosed November 21, 2016. When the doctor asked if my wife had anyone in the family with ALS, she said, "No". Three days later at Thanksgiving a family member said, "O', your first cousin passed away from ALS in 2011." I knew it had to be fALS at that point.

This is such bitter sweet news. On one hand, it's hard not to get excited when reading articles like this one:

The ALS Association

It may be a false hope. It may be a cure for the next generation. However, the thought of even the slightest possibility of a "cure" feels so good.

On the other hand, it's potentially devastating news for the family.

Enough for now...

Rob
 
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Nikki J

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Hi if you have to have FALS and you are not SOD1 which has gene blocking therapy in trial right now and a few more things looking hopeful C9 is the next best. Yes, antisense therapy is going to be trialed soon. My neuro just told me still on schedule for end of the year. Another gene blocking therapy is 1-2 years out she said.

I hope they got it right the first time. It has been studied in c9 mice and in motor neuron cells grown from skin and blood donated by those of us who carry c9.

It may not be in time for the currently diagnosed. No one can tell us. But it is close. There is hope.

I have faith that the next generation will be cured.

The family will of course have to deal with the news and it is hard. The message I would give them after the shock wears off is they can help fight by participating in biomarker studies. There are opportunities for the diagnosed, the known asymptomatic carriers, and those whose status is unknown. We are lucky in that it is common relatively speaking and causes FTD as well as ALS which makes it popular to study It was discovered Less than six years ago and knowledge has exploded since. We need family members to step up. I think there are two sites for clinic based biomarker studies near you. Did your clinic mention it?
 

NothingButLove

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Lost a loved one
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Nikki J,

The SOD1 gene blocking trial... Is that the ISIS / Biogen BIIB067 (Isis-SOD1Rx) trial? I saw this ALS Association announcement titled "First ALS Patient Receives Isis-SOD1RX Antisense Treatment in Phase 1 Clinical Trial". It is dated March 5, 2010. That's 7+ years ago. From a "time is of the essence" point of view, that's not very encouraging.

First ALS Patient Receives Isis-SOD1RX Antisense Treatment in Phase 1 Clinical Trial - The ALS Association

My wife's doctor mentioned that there is an upcoming clinical trial for people with C9orf72. It involved getting an injection in the spine. She said their clinic, UCI ALS & Neuromuscular Center, had been selected as one of the clinics to conduct the trial. I was so shocked by the news of my wife being C9orf72 positive, I didn't get any details. I'll be sure to get all the details the next time I talk to the doctor.

My wife's doctor did not mention the biomarker studies. My wife's side of the family doesn't want to know anything regarding ALS and genetic testing. I tried to convince a family member that you live a considerable amount of time with ALS and it would be best to prepare. They weren't buying it. My ideas about prenatal testing were pretty unpopular too.

I can't look down on them though. The only person I could influence to get any kind of testing done is my son. At this time, I don't want to know. My wife and I are going through enough. I'm not accepting anymore bad news at this time. Know what I mean?

Take care Nikki J and thanks for the quick reply!

Rob
 

Nikki J

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There was a sod1 trial back then which did lower levels clinically but did not affect progression . They needed to reformulate it ( I don't know why nothing bad seemed to result from it but I think the reason was to make it more effective. ). The new formula went to trial in 2016 and is ongoing. I am encouraged to hear they are planning an open label extension for sod1 participants. I can't believe they would do this if they were not hopeful.

Yes the trial you were told about is antisense. It is given intrathecally ( like a spinal tap). It is great your clinic will be a site.

Not everyone wants to be tested. That is extremely valid. Ivf is starting to be done with a view to not implanting an affected embryo. It is expensive and not for everyone. Honestly, I am so confident of a cure for C9 before any embryo could possibly have to worry that I am not sure I would go that route unless I needed IVF anyway.
 
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