- This is a wild post for me to make because I havent shared this with many people. Today, the Lancet published the results of a trial for a novel ASO therapy for FUS-ALS which me and my siblings participated(-ing). You can read about my experience here: www.columbiadoctors.org/news/jeffs-s...
- My family carries a mutation that causes a particularly aggressive form of ALS, which wiped out an entire generation (my mother and all of her 3 siblings) and it has now taken the lives of two of my sisters (in their early 40s) who were also on this study.
- The results of this study are amazing, it substantially extended the lives of my sisters, one participant had phenotypic reversion, and fortunately I am still overt-symptom free (and had even reversion of EMG irregularities).May 23, 2025 19:34
- The Lancet research article covering the trial results is here: www.thelancet.com/journals/lan...
- As an aside, this is my second clinical trial. The first one was for Ph+ ALL in which I was on Gleevac when I was 16, though I eventually relapsed and later got a BMT. I am a testament to the importance of NIH-funded research and how it can tangibly and profoundly changes lives.
- I should also mention that this whole story started randomly at a gene regulation conference in Barbados! Never say no to a conference, you never know what could result.
