Out of Order

Author: Jens-Ingo Farley

  • (Vaccine) Efficacy

    This article has nothing directly to do with SCA. It has to do with COVID-19 vaccines and efficacy rates. What I’ve learned does apply to understanding efficacy in SCA drug trials, and so I’m glad to have gone through this. The efficacy of a vaccine pertains specifically to a Phase 3 drug trial and mathematically…

  • At Risk of Being Complete Nonsense

    I see things like this: “Ataxia can strike anyone at any time regardless of age, gender, or race.” Misleading expressions like this are common for ataxia—blurring the lines between spinocerebellar ataxia (SCA) and other ataxia forms—and Huntington’s disease (HD). This line of reasoning is ridiculous for dominantly inherited genetic diseases such as SCA and HD.…

  • Terminology: Gene Therapy

    The question here is whether it’s correct—as was done by article writers in 2019—to treat gene silencing as not a kind of gene therapy. For example, 2019-05-24: Zolgensma (based on proprietary [secret] viral gene therapy). Claimed selling point: first and only gene therapy for SMA. First and only? Only if ASO gene silencing doesn’t count…

  • Terminology: Keep A-Knockin’

    Knockout, knock-in: what’s the deal? It sounds like they are opposites; are they? The context When talking about gene knockout and gene knock-in, we are talking about the initial creation of non-human animals (fruit flies, worms, mice, fish, pigs, etc.) using genetic engineering, then breeding them for multiple generations. Yes, they were originally genetically engineered…

  • How Do People Afford Million-Dollar Drugs in the U.S.?

    I think the answer is that many can’t afford million-dollar drugs and must forgo treatment. Examples of expected million-dollar (more or less) drugs are the upcoming ASOs for Huntington’s disease and for SCA3, based on the recent market. Even with stellar insurance, the copayments (i.e., from a few thousand to a few tens of thousands…

  • Loose Screw

    I have a Nitro walker, made by Drive, model RTL10266WT (WT = white). On Amazon. Twice, a screw fell out that is not offered as a replacement part, and I found the exact replacement, so I wanted to provide that information. I think it likely unscrewed itself and fell out on bumpy cobblestones. Perhaps either…

  • Terminology: When It’s Social

    Perhaps I’m borderline autistic—missing social cues. It sometimes takes years for me to realize that my SCA3 problems have all along been commonly referred to using terms that don’t “connect” with me. Twitch vs. tremor My right arm biceps muscle recently started gently twitching randomly (not rhythmically) once or twice every few seconds, as long…

  • Viral Delivery

    I’m changing my tune and jumping on the CRISPR bandwagon, with the stipulation that for polyQ SCA, it must be futuristically deployed with viral delivery—i.e., nanoparticles cannot be effective enough. The time horizon for treating SCA(3) is beyond my lifetime, but at least it’s possible to imagine it working eventually on presymptomatic children. Neuronal death…

  • FDA-Approved ASO Therapies as of 2017

    As of 2017, there have been six FDA-approved antisense oligonucleotide (ASO)-based therapies on the market. These are all for non-brain diseases: diseases of the retina (2), liver (1), and three others. Number six (spinal muscular atrophy) is the closest we get to the brain. As I mentioned earlier, Ionis Pharmaceuticals is in the early stages of…

  • SCA Therapeutics Development

    This page lists some therapeutics (mostly drugs; sorted by company name) being developed for spinocerebellar ataxia (SCA)—leaning towards SCA3, which I have—and Huntington’s disease (HD). There are reasonably no claims to stop, prevent, or cure the diseases. The National Ataxia Foundation’s take on this. Why include Huntington’s disease? The SCA that I have (SCA3) and…