In the pilot study titled, “Investigating the exosome content as a novel marker for Usher syndrome 1b”, Dr. Irene Vázquez Domínguez at RadboudUMC, Netherlands, will investigate if tears can be used as a source of information to help improve the current knowledge of the disease and also, if they can be used to better predict the development of Usher Syndrome type 1b. This is a one year study being co-financed by Usher Syndrome Ireland in a collaboration with main financer, Stichting Ushersyndroom.
This is an exciting and historic moment for Usher Syndrome Ireland as we fund for the first time, an USH research study. In anticipation of many questions, we have answered some here to help explain a bit more about this exciting study.
Why are tears being used in this study?
Tears are human body fluids and are rich in proteins, lipoproteins and exosomes. Exosomes carry genetic information and work as messenger particles that release naturally from a cell and are responsible for cell to cell communication. Examining the contents of retinal exosomes in this study, which can be isolated from tears, may help Dr. Irene Vázquez Domínguez to better understand the disease if biomarkers for USH1B can be found and hopefully, its progression pathways. As the tears can be collected in a non-invasive way (without entering the body) from patients, they allow for easy and patient-friendly isolation of exosomes.
How will the tears be obtained?
In this study, tears from recruited USH1B patients and a control group of non-USH patients will be obtained to examine and compare the retinal exosomes. The tears will be extracted in a controlled environment using a device to blow air into the eyes of the participants to obtain the tear samples.
What could the results tell us?
1. The presence of biomarkers for USH1B
2. Identify the pathways involved in the disease progression
Some of the benefits, if successful results are achieved from this study, would include:
- Alleviating stress and worry for some parents of children with USH1B. Some children are diagnosed with USH1B through genetic testing, but they only have the hearing loss and don’t go on to develop retinitis pigmentosa (known as non-syndromic USH1B). But their parents have no idea if their child will develop RP or not, and have to live with the uncertainty of it for many years. Better diagnostics tools, such as this if successful, could alleviate stress and worry for some of these parents.
- Increasing the present knowledge about the MYO7A gene is necessary for finding new biomarkers that can be used for making the diagnosis and for predicting the progression.
- This knowledge could be used in monitoring after a treatment.
- This study will show if exosomes could be used as a means to develop new strategies in USH research.
What about other USH types?
USH1B presents similar RP progression to USH1F, USH2A, and USH2C. Therefore improving current knowledge about USH1B, especially focusing on markers and progression pathways, could have benefits for several USH subtypes.
Need more information?
You can read the full press release here from Stichting Ushersyndroom which contains more information.
Or email us if you have any questions.
Members of Usher Syndrome Ireland & Stichting Ushersyndroom meeting with Dr. Irene Vázquez Domínguez
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