U: Thank you, Dr. Calzetti, for your availability for this interview. We know that you are working on a study that also concerns people with Usher Syndrome. What study is it?
C: It is the Uni-Rare study, short for “Universal Study on Rare Genes: Registry and Natural History Study of Retinal Dystrophies Associated with Genetic Variants Causing Rare Diseases.” As the name suggests, it is a worldwide study focusing on rare retinal diseases, including Usher Syndrome.
U: Which forms of Usher Syndrome does the Uni-Rare study focus on?
C: The Uni-Rare study concerns all forms of Usher Syndrome except type 2A. It therefore involves the forms of Usher Syndrome caused by mutations in the following genes:
- MYO7A gene, cause of Usher syndrome type 1B
- USH1C gene, cause of Usher syndrome type 1C
- CDH23 gene, cause of Usher syndrome type 1D
- SANS gene, cause of Usher syndrome type 1G
- CIB2 gene, cause of Usher syndrome type 1J
- ADGRV1 gene, cause of Usher syndrome type 2C
- CLRN1 gene, cause of Usher syndrome type 3A
- HARS1 gene, cause of Usher syndrome type 3B
- ARSG gene, cause of Usher syndrome type 4
It can be said that Uni-Rare is one of the most important ongoing studies for these forms of Usher Syndrome.
U: What goals does the Uni-Rare study pursue?
C: Uni-Rare has two main goals:
- to measure the progression of retinal degeneration specific to each gene, in order to correctly evaluate the potential effectiveness of new treatments during future clinical trials that will follow Uni-Rare;
- to create a registry of patients eligible to participate in these upcoming treatment trials.
U: The Foundation Fighting Blindness funds the study. Is the funding sufficient to conduct it?
C: Yes, the Foundation Fighting Blindness provides a budget for Uni-Rare researchers. This budget was sufficient to launch the study in Italy at Vista Vision Clinic in Brescia. However, to carry out the study, we need additional financial support, particularly to expand the research team that manages the various aspects—administrative and bureaucratic as well—of this very demanding scientific project.
U: One of the statutory objectives pursued by USHER Italia A.P.S. is to support and finance medical-scientific research aimed at finding a cure for Usher Syndrome. If you agree, your study will be one of the projects for which we ask sensitive and generous people to help us with donations, even small ones, according to everyone’s possibilities.
C: This would greatly support the progress of the study. Every contribution, even a small one, is a little push forward towards achieving our goal, which is to find a cure for Usher Syndrome.
U: Thank you, Dr. Calzetti, for this interview. See you soon!
C: Thank you to USHER Italia A.P.S.!