Most Promising Treatment Option (Opinion)

[Deleted User]

I’m with you Matt, no expectations on meds but still hopeful.

[Shandra]

The Moxie trial is not gene therapy. 🙂
I really like the way FARA breaks down drugs into categories in their treatment pipeline (link if interested, but I’ll explain: http://www.curefa.org/pipeline )

So the various drugs in development take different approaches to helping us. ANYTHING that could help is exciting, but some things are obviously more exciting than others in the long run.

I’ll reference the FARA pipeline by color. First there’s something I like to call symptom bandaids. These drugs don’t fix FA, but instead they go after certain symptoms. Takeda, for example, helps your cerebellar neurons communicate better, so it is designed to improve coordination despite FA’s damage. It’s like cough medicine. You have a cold and cough meds won’t fight your cold, but they will relieve you of a symptom of your cold.

Then there are drugs designed to help the cell manage FA’s damage (red). Omaveloxolone (Moxie) for example, makes your body fight oxidative stress better. Oxidative stress is a part of the damage done by FA. It’s like being armed with a hose when the stove is on fire. Your cells can deal with the fire instead of letting the whole place be burned down.

Next are drugs that affect the protein we don’t have enough of, Frataxin (green and yellow). Etravirine is in this category too. To follow the last metaphor, these drugs help deal with the reason the stove keeps catching fire, so it stops catching fire. This one is tricky because some things work better than others at raising or stabilizing Frataxin levels. But if the stove stops catching fire, your body can divert its attention to fixing the burnt house.

Gene therapy is the most exciting thing to me. First of all, we have 6 different companies working on it. At least one is set to begin trials on us this year. Gene therapy involves a harmless virus that is loaded with a functioning copy of the Frataxin gene. This virus then “infects” your cells with the healthy Frataxin gene. With that, your body can make its own Frataxin like a normal person. In other words, you’ve just gave your stove the part it was missing so now it won’t catch fire again. Your body can go work on restoring the burnt house.

CRISPR is years off, but has the potential to be exciting. With that the repeats in your DNA can be cut out, so your own Frataxin gene becomes normal. That’s basically calling a skilled repairman to thoroughly fix your stove so it can never catch fire again. This will, like the others, allow you to fix the burnt house and move on.

[Chris]

Hi, @shandrajamie Which company is closest to starting gene therapy trials? Just wanted to read up more on them, if possible. I keep reading on all these promising companies and none of them seem close to a good treatment option. 🙁

Etravirine or some similarly altered version designed for FA specifically is probably the most hopeful option I’ve seen yet. Someone said one of the doctors mentioned trying human trials soon as well.

CRISPR is very exciting to read up on, but I agree. It is FAR away from becoming a reality. We can safely bet on medication and gene therapy coming way before that.

[Shandra]

Based on their presentation at CHOP in October, I’d say UF is the farthest along. And based on press release it seems like Votager isn’t too far behind. I know nothing about the other companies, beyond the fact that they have an FA gene therapy project.

[Jessie Beatty]

Shandra, thanks for your explanation. I have have wondered if some of the potential treatments might just be bandaids for symptoms.

[Egan]

Thanks Shandra! The stove/house analogy helps alot. Do any of these therapies help to repair the damage already done directly? I mean suppose you do manage to put out the flames of FA, you’re still left a burnt house…