The same person familiar with the Stoke Therapeutics research has contacted a research team from Italy and Greece this time. This in response to the article below and with the goal of getting a simpler explanation of what they do and an estimate of what the expectations are for the future. There is research being done by these researchers on ADOA for 18 years!!!

The research is called Inhibition of autophagy curtails visual loss in a model of autosomal dominant optic atrophy. And through either of these links you can read it in full: https://www.nature.com/articles/s41467-020-17821-1 or https://rdcu.be/b840e

With the answers to our mails to the researchers and by means of having the medical paper read carefully by an acquaintance who is knowledgeable about such studies, we have come to the following report;

ADOA is caused by a defect in the OPA1 gene. This causes mitochondria (energy factories of our cells) to malfunction. Because they are not working properly, self-destruction mode (autophagy) is turned on and they die. In addition to providing energy, mitochondria are also important in the optic nerve to relay signals from the eye to the brain. So if there are not enough of them, those signals cannot be passed on.

The researchers have shown in mutant cells that this self-destruction mode is a big problem and if they turn it off, there are as many mitochondria in the nerve cells as in healthy cells. They’ve also done this in mice. They made a mouse model where some of the optic nerve cells don’t have an OPA1 gene. As a result, the mice lose much of their vision when they reach 4 months of age. If they then turn off part of that self-destruct gene as well they see that the mice just keep their sight when they are 4 months old. They keep their sight until at least 12 months (they haven’t looked any longer). What is important though is that they have already turned off the self-destruction mode from birth. They don’t cure the mutation, nor do they restore sight.

The way they used in the paper at this time is not applicable to humans. In the interview they talk about drugs/substances that they want to start testing to see if that has the same effect. That is especially very interesting because they might be able to use that for humans. Furthermore, they also said that they don’t expect vision to get better again but that it won’t get worse. So not cure but delay/stop.

Because you have to take the medicine for the rest of your life you could use a pump under the skin. This is just an idea and unfortunately they are still far from that.

Nor can the researchers predict when there might be a therapy. They think they will need five years to test the drugs. Suppose something works super well then a clinical trial could be organized. But this also takes a number of years depending on a lot of factors. So this is also really unpredictable.

The researchers also indicated that this approach will probably and unfortunately not work for ADOA+ since other processes play a role here.

We will continue to monitor this research!

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