Research

[Amanda]

Do you have multiple cases of ALS in your family?  When did you first become aware that ALS ran in your family? Is it important to you that you participate in research? What information went into your decision to seek out ways you can help or advocate for pALS and medications/therapy for pALS?

[Janette Anne McIntosh]

My mother got ALS in 1974 at age 50 and died in 1974. Her mother passed away at age 71 but little was known at the time about ALS. My youngest brother was diagnosed in July 2014 at age 55 and died in August 2015.  My oldest brother who is 75 possibly has recently been told he has it although his appt is with his doctor in November.  I’ve gone back through my grandmother’s parents but they lived to be a good age and no indication they had ALS

 

Janette McIntosh

 

[Jean-Pierre Le Rouzic]

There were two people diagnosed with ALS in my family. The ALS clinic (in France) provided only minimal services or information.
After two years studying ALS research papers, I am not even sure that familial ALS means something related to some of the 126 “ALS genes” [0].
In my opinion “inheritable ALS” does not means that there is an “ALS gene”, even in the case of C9orf72 (which is anyway an ORF [1], not a gene).
My opinion is that clinical trials have too stringent rules for diseases like ALS, as past phase III clinical trials have been declared failed for drugs that brought some improvement, unfortunately at the cost of side effects.
It would have been better to try to mitigate those side effects, than to stop the research entirely (usually if a phase III failed it is very difficult for a biotech to fund further research).
Caveat lector: I am not a doctor nor a scientist.

[0] https://alsod.ac.uk/
[1] https://en.wikipedia.org/wiki/Open_reading_frame

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