CURE ADOA FOUNDATION
The research
Enabling research
Enabling research into ADOA(-plus) is an important goal of the Cure ADOA Foundation, because without research there is no knowledge, without knowledge there is no treatment and without treatment there is no cure.
ADOA(-plus) is very rare and unknown to many. As a result, there is little funding to start a study specifically aimed at our condition. Nevertheless, there are several recent techniques and perspectives that give hope. We may be able to link up with ongoing research aimed at restoring retinal ganglion cells (optic nerve cells) or at curing mitochondrial disorders or gene and stem cell therapy.
National and international research
Due to a lack of funding, there was little research into treatment and cure until a few years ago. However, we have seen more and more research being done into our condition in recent years. For this reason, we want to connect with these researchers and pharmaceutical companies. We want to commit ourselves to helping them continue their work and develop a therapy for ADOA(-plus).
At the moment, many studies are still in the disease deepening stage, i.e. investigating the exact cause of the disease. In the Netherlands, for example, Dr. de Coo active, see also 'Disease floor OPA1/ADOA'.
Various studies have been and are being conducted in Denmark, Germany, France, Italy, the United Kingdom, the United States and Canada. We are in regular contact with three pharmaceutical companies, namely Stoke Therapeutics, PYC Therapeutics en Abeona Therapeutics.
The impact on daily life
In addition to disease deepening, research is also being done into the impact of ADOA(-plus) on daily life. These studies are very important for obtaining certain subsidies. In the Netherlands and also the United Kingdom, these kinds of studies are being done, for more information see the section at the bottom of this page about the 'ION-PROM study' and this associated news item.
The Orphanet website is a unique resource that collects and enhances knowledge about rare diseases in order to improve the diagnosis, care and treatment of patients with rare diseases. ADOA and all its variants are also listed here, for more information: www.orpha.net.
Sign up for Global Genes' RARE-X
Global Genes is a non-profit organization that works for people with rare diseases. With its RARE-X program, it collects as much data as possible about people with specific rare diseases, such as ADOA(-plus). This data can be made available for research by participants, which accelerates and improves the research process.
As the Cure ADOA Foundation we support RARE-X from Global Genes and call on everyone with ADOA(-plus) to participate in this program.
What we're raising money for: Stanford Medicine
Help us and support research into optic nerve regeneration!
The Cure ADOA Foundation is raising money for a large-scale study at Stanford Medicine. This study focuses on regrowing optic nerve cells. For people with ADOA, this is the chance for a cure. That is why we are very happy about it.
Stanford Medicine, led by Professor Jeffrey Goldberg and Professor Marius Wernig, is one of the world's leading research institutes. Part of their research is to determine the specific impact and effects of ADOA. And building on that, what is needed to realize regeneration of optic nerve cells in patients with ADOA.
We funded the first year of this part of the research, you can read more about that here in this press release. But to continue this work, another $100.000 is needed. Your donation will help directly make this important research possible.
Why is this important?
▪️ There is currently no treatment for ADOA.
▪️ This research offers hope: aimed at healing and recovery.
▪️ Your support will provide an extra year of research.
Do you, like us, think this research is a good destination and can you spare some money? Every donation, big or small, makes a difference. Donate and give people with ADOA hope for a better future!
The road to treatment
United Kingdom ION-PROM: Development of a patient reported outcome measure (PROM) for inherited optic neuropathies (ION)
Dr Patrick Yu Wai Man of the University of Cambridge and Moorfields Eye Hospital (London) is leading a study to develop a new questionnaire for individuals affected by ADOA and LHON. The questionnaire is being developed to report on patients’ quality of life and experiences with their condition. The questionnaire will be a useful tool in future clinical trials of both conditions and as part of regular clinical assessments to understand the impact of ADOA and LHON.
The researchers are looking for individuals to participate in one-hour interviews on Zoom to discuss their experiences living with ADOA or LHON and to review the questions they have developed.
Dr. Patrick Yu Wai Man, Professor of Neuroophthalmologist, Department of Clinical Neuroscience, University of Cambridge.
They are also looking for individuals to pilot the questionnaire and ensure it is relevant to the LHON and ADOA communities. Individuals with a genetic diagnosis of ADOA or LHON, aged 16 years and older, and with symptoms of their condition are invited to participate.
For more information in English, see here summary of Staudio and the information for participants.
