Drug for rare form of ALS benefits some patients

2 Mr. Sirati's weakness began in his right leg and over time he developed problems raising his right arm above his head. ALS is a neurodegenerative disorder associated with the progressive loss of motor function. He has historically been associated with this kind of devastating experience of losing one's Independence, although he was still aware that this was happening, he ended up testing positive for a variant in the sod1 gene. sod1 is a gene and mutations in that particular gene cause ALS in

some

people, it's about one to two percent overall of ALS. I've been watching people. with ALS we actually look at your muscles looking at their Melt Away function and now we have

some

thing that can slow down it's a small subset but it can slow down ALS okay we'll put the medicine in now it's okay for one person it's a special medicine that can block the build up of grass, a particular protein, the abnormal mutant

form

of that protein, the one that kills nerve cells.

What is striking about Mr. Sirati's case is that about three months after taking

drug

s, it was very clear that this change occurred. and there was a rapid improvement in his function in all of these different parameters since taking the medication. I felt stronger or can do more things, being able to physically move parts of my body that I couldn't. before I did amazing, you know, seeing someone with ALS really get better is something I never thought I'd see in my career. I just didn't, not only is it important for that small percentage of

patients

who have this particular

form

of ALS, it's even more so. which indicates that we are showing that people really can get better with this disease there were a variety of

benefits

for participants in the clinical trial some people unfortunately continue to progress throughout the clinical trial a good number of participants stabilized and for ALS that It's unusual most of the time this is a relentlessly progressive downhill course and then surprisingly some participants improved for me to show me that we can have this kind of improvement in ALS, we really are able to bend the curve, it tells me that the ALS is a treatable disorder if we have the right medication, we can have a big impact on the treatment of ALS, so now the challenge for researchers like me, and of course for many other people around the world, is to find the right medicine to find a medicine that can have an impact on Alec's population at large.