Usher Syndrome

Projects

Development of new therapies

Reference center

Knowledge dissemination 

Artificial retinas

Development of new therapies

Several research groups around the world are engaged in the development of new therapies potentially able to restore the retinal function in patients with Usher syndrome, in particular through gene therapy approaches.
Gene therapies require huge investments. Rare Partners pragmatically decided to try to have an impact on the field, despite the limited financial resources, by identifying those pharmacological approaches able to slow down the retinal degeneration in Usher patients. In these cases our company brings to the project not only financing support but also the necessary know-how for managing pre-clinical and clinical studies.
Since 2016 Rare Partners has been collaborating with the Ophthalmology Department of A. Gemelli Policlinic Hospital in Rome, directed until 2022 by Prof. Benedetto Falsini, an internationally recognized expert in the Usher field. In particular, Rare Partners supported the realization of a patient registry for this specific pathology, that will be an important tool both for clinical assistance and for research programs.
Currently Rare Partners is financially supporting and collaborating to the protocol writing for a first pilot clinical study having as a goal the study of the potential effect of the active principle TUDCA (tauro-ursodeoxycholic acid) on the retinal degeneration associated with Usher Syndrome. TUDCA is a very interesting compound, already approved for other pathologies, including chronic liver diseases and presently under advanced clinical testing for the cure of ALS (amyotrophic lateral sclerosis). The start of the clinical trial in Usher patients, that is supported by the company Bruschettini, producer of the active substance, is foreseen for the second half of 2024 and could involve, together with Gemelli Hospital in Rome, other two clinical centers in Northern Italy.

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Reference center 

An ambitious long term project of Rare Partners is that of supporting the creation in our Country of a reference medical center specialized in the diagnosis, medical assistance and research for the Usher Syndrome.
The first step in that direction has been the organization and financing, together with WithUsShare Foundation and the Ophthalmology Department of Parma University, of a training program in years 2017 and 2018 for Dr Giacomo Calzetti, an Italian Ophthalmologist, at the Hereditary Retinal Degeneration Center, Scheie Eye Institute, University of Pennsylvania, under the supervision of the Director of the Center, Prof. Samuel G. Jacobson.
Once back in Italy and after a research intership at the Ophthalmology Department of Parma University (Prof. S. Gandolfi) Dr. Calzetti held a researcher position at the prestigious IOB (Institute of Molecular and Clinical Ophthalmology) in Basel from 2020 and until the end of 2023. Since January 2024 Dr Calzetti has been qualified for the network of clinical centers financed by the FFB (Foundation Fighting Blindness, Columbia MD) and will take part to the international clinical trials financed by FFB, operating at the Vista Vision Eye Clinic in Brescia.

Rare Partners is supporting Dr Calzetti, through a fund raising campaign launched in 2024, for the purchase of the scientific equipment required for carrying out the above mentioned clinical trials.

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Knowledge dissemination 

Together with the support to new therapies development, Rare Partners identified since the beginning another goal, that is the increasing of knowledge and awareness regarding Usher Syndrome, through information campaigns and organization of events.
Since school year 2021-2022, in collaboration with Rotary Club Savona, Rare Partners launched the project “No Limits”  that consists of several meeting sessions with students from high school, with the aim of demonstrating the possibility to overcome our own limits, related to physical or mental impairment. The project, that counts with the collaboration from Alessandro Mennella, a triathlete affected by Usher Syndrome, received great appreciation and has been organized again for school years 2022-2023 and 2023-2024. For next year 2024-2025 we are planning to involve of all Rotary Clubs of western Ligurian Riviera and possibly extend the project to other Italian regions.

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Artificial retinas

Rare Partners has collaborated in the past with the Centers "Synaptic Neuroscience and Technology” in Genoa and "Nanoscience and Technology" in Milan, both of Istituto Italiano di Tecnologia (IIT), that are developing artificial retinas based on light-sensitive biopolymers.

The prototypes, developed by the laboratories of the two IIT centers led by Prof. Benfenati and Prof. Lanzani, are the result of a multidisciplinary approach. The preliminary data obtained in experimental models are very promising and the first safety and efficacy trial in humans could be initiated very soon.

Rare Partners supported the program initially with a scholarship in the year 2017. Later on our company obtained a grant from Lombardia Region within the funding program “Innodriver”, that allowed a further financial support to IIT research work in the artificial retinas field.

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