Over the past few years, a number of people from the foundation have been active in searching for studies that are being done on ADOA worldwide. The positive news is that compared to about 5 years ago, there are a surprising number of new studies that can be found that are related to ADOA. In addition, there are also studies that do not directly have ADOA as their main topic but do have related conditions such as Leber and Glaucoma. The researchers we spoke to about these related studies indicated in most cases that if these studies were successful, a relatively short period of time might be needed to make it applicable to ADOA as well. But by relatively short we still mean a period of several years.
All in all, we have been surprised in recent months with the amount and content of what is going on. That said, a cure or solution for ADOA is still quite some time away. Researchers are generally talking about 10 years. A few expect to offer something in 5 years at best. In addition, for the most part, stability of vision will be achievable. Not many studies expect to provide vision improvement at this time. Both commercial and non-commercial agencies (such as universities) are actively engaged in research. That commercial agencies are also focusing on ADOA we think is a good sign. It means that they have serious faith that a solution can be found. What is also good news is that since this year in the Netherlands an expensive gene therapy for another rare eye disease is reimbursed from the basic insurance, because also the financing of treatments for rare diseases can sometimes be a difficult point.
Below we will touch on a few studies. To better understand them, we first have a brief explanation of how the eye works and where the problem lies in ADOA.
The retina of the eye all contains RGCs (retinal ganglion cells, or optic nerve cells). These cells have offshoots (connections) all the way to the brain. Together, these offshoots form the optic nerve. The RGCs are an important part of the eye for vision. In ADOA, there is a flaw in the gene of the DNA of these optic nerve cells (RGCs) that causes a certain protein to be underproduced. The result is that so-called mitochondria (the energy factories in the cells) receive too little energy. Eye nerve cells in particular are not able to cope with this energy shortage and therefore die. In ADOA+ the same thing happens but other cells also suffer from this (e.g. muscle cells, cells for the auditory nerve, heart muscle cells). Environmental factors (e.g. smoking) and genetic factors, most of which are still unknown, play a role in the difference in the course of the disease. As a result, people with the same abnormality have a different clinical picture.
At the moment we have studied and approached several studies. A small overview;
- Stoke Therapeutics and PYC Therapeutics are 2 commercial companies investigating whether they can supplement the protein deficiency of which the mitochondria continue to do their work properly. This keeps your vision stable (does not improve). They expect that this should be possible with a six-monthly injection into the eye. A detailed report of our interview with Stoke Therapeutics can be found here. About PYC, you can read about their plans in this English paper.
- Other university research teams from the Netherlands and Italy, among others, are investigating which substances, in addition to the protein deficiency, can ensure that the mitochondria continue to function properly. Again, vision should remain stable with the current situation. They are thinking about their little pump under the skin that should ensure that the substances get to the right place. Also from the research in Italy, the report can be found here on our site.
- Harvard and other research teams are doing more or less the same as the above research only they are also looking at whether it is possible to get new RGCs on the retina. This should ideally allow vision to improve (slightly). We have just discovered these researches and we are going to explore them further. We are trying to make contact with these research teams and will report back later.
- There are also many studies underway on Leber’s disease and glaucoma. As mentioned, these are eye diseases that have similarities to ADOA. We have discovered a study that attempts to replace the bad gene in the DNA with a modified healthy gene. If this succeeds then the mitochondria would be properly controlled again and vision would remain stable. Who knows, it might even improve. This should be possible with a one-time injection.
As mentioned in the introduction, all research is in the early stages and it will take at least 10 years before there are serious possibilities to do something about ADOA. In the meantime we continue to search for new studies and the latest developments in the described studies. But there is a lot going on at the moment so that is at least positive! In addition, we as a foundation are knocking on doors everywhere so that we stay in contact and they know how to find us, if there are developments where we can provide input. If you want to help then you are always welcome. Especially if you are medically skilled because that helps us to understand the research better and faster. To be continued!