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X-WR-CALNAME:USHER Italia A.P.S.
X-ORIGINAL-URL:https://usheritalia.it/en/
X-WR-CALDESC:Events for USHER Italia A.P.S.
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DTSTART:20240101T000000
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BEGIN:VEVENT
DTSTART;VALUE=DATE:20251203
DTEND;VALUE=DATE:20251204
DTSTAMP:20260120T112400Z
CREATED:20251203T151949Z
LAST-MODIFIED:20260120T112400Z
UID:2962-1764720000-1764806399@usheritalia.it
SUMMARY:Workshop Outcome Meausures for Gene Therapy
DESCRIPTION:The “Workshop Outcome Measures for Gene Therapy” event\, held on December 3\, 2025\, at the Bambino Gesù Children’s Hospital in Rome\, brought together international clinicians and researchers to discuss the state of the art of gene therapies for inherited retinal diseases and the best metrics for assessing their efficacy. \nUSHER Italia A.P.S. was invited to participate as a representative of those interested in gene therapies for retinal diseases\, particularly retinitis pigmentosa. \nIn the introductory session\, M. Raponi and L. Buzzonetti opened the proceedings with “Introductory remarks on rare eye diseases\,” outlining the clinical and epidemiological burden of rare eye diseases and the need for dedicated pathways. \nRizzo and H. Dolfuss then presented “New therapeutic approaches in IRDs and the role of ERN EYE\,” presenting the development of gene therapies and the role of European reference networks in coordinating research and access to treatments. \nIn the first part of the morning session\, coordinated by G. Iarossi and Prof. H. Dolfuss\, two general topics were discussed: “Gene therapy in some specific IRDs: where are we now?” and “Analysis of IRD clinical trial experience: what was missing?”\, with a critical analysis of the trial results and the gaps in the outcomes used so far. \nA.P. Salvetti presented a presentation on “Diagnostic approaches and endpoints for IRD clinical trials\,” examining retinal imaging\, functional measures\, and outcome criteria currently used or proposed for future studies. \nThe following topics were then discussed: \n– an update on therapies for RPGR\, illustrating clinical experiences and the critical issues in choosing the most sensitive functional endpoints (A.P. Salvetti)\, \n– “X-linked Retinoschisis\,” focusing on the preliminary results of gene therapy trials and the challenges of study design in a disease with a variable phenotype (P. Sieving)\, \n– “RPE65/USH1B\,” reporting on experience with already approved therapies and efficacy and safety data collected in registries and long-term follow-ups (F. Testa)\, \n– “CEP290/USH2A“\, analyzing gene editing and antisense approaches and the prospects for forms of the disease currently without an approved treatment (B. Leroy)\, \n– “RP11“\, describing the experimental strategies and structural and functional endpoints considered in the protocols under development (J. Prener Holtan)\, \n– “Gene agnostic approaches\,” i.e.\, strategies not linked to a single gene (e.g.\, neuroprotective or optogenetic therapies) and the related difficulties in defining shared outcomes (I. Audo). \n  \nThe afternoon session was chaired by B. Falsini and G. Iarossi. \nThe focus shifted to “Clinical vision testing (electrophysiology\, psychophysics\, multimodal imaging): how to select the most appropriate parameters to evaluate therapy efficacy\,” with a discussion guided by the available evidence in the literature on structural and functional outcomes in ocular gene therapy trials. \nSieving\, B. Falsini\, and G. Iarossi explored the role of “electrophysiology\,” illustrating how ERG\, evoked potentials\, and other techniques can quantify improvements even in the presence of minimal anatomical changes. \nAmato and R. Mastromartino discussed “Psychophysics\,” highlighting the usefulness of tests such as light sensitivity thresholds\, campimetry\, and contrast measurements to detect clinically significant changes from the patient’s perspective. \nA.P. Salvetti\, A. Coppè\, and G. Gambini presented “Multimodal imaging\,” demonstrating how OCT\, autofluorescence\, and other combined imaging techniques can correlate structural changes with functional changes in trials. \nDolfuss presented the “ERN EYE act4red initiative\,” a European project aimed at standardizing diagnostic and monitoring pathways in IRDs and defining shared outcomes for multicenter studies. \nBorgonovi presented “Patient and regulatory agency perspectives\,” addressing the patient perspective\, expectations regarding clinical benefits\, and regulatory and health technology assessment aspects related to the evaluation of gene therapies. \n  \nThe final presentation was delivered by our President\, Attorney Laura Orsatti\, assisted by Vice President\, Attorney Sergio Massimiliano Bologna\, and Associate Dr. Anna Balletta. \nUSHER Italia A.P.S. contributed to the final presentation by bringing the voice of people with Usher Syndrome to the public’s attention\, illustrating the Association’s activities\, advocacy goals\, and research priorities in line with the needs expressed by its members\, and highlighting the priority of establishing a network of connections with institutional bodies and those involved in research into potential therapies based on the most recent recommendations on outcomes in ocular gene therapy trials. \nPresident Laura Orsatti concluded by expressing her hope that people with Usher Syndrome\, now experiencing hearing loss and currently receiving treatment as such\, and now experiencing vision loss and currently receiving treatment as such\, will be treated jointly by doctors specializing in ENT and ophthalmology in every healthcare center they visit\, as only this approach can ensure effective and comprehensive care for those with Usher Syndrome. \nRead the article by Dr. Giancarlo Iarossi: The importance of understanding the natural history of Usher Syndrome \nCheck the event program: WORKSHOP OUTCOME MEASURES FOR GENE THERAPY \n  \n\n			\n				\n			\n				\n				Workshop poster \n				\n			\n				\n			\n				\n				USHER Italia A.P.S. introduction
URL:https://usheritalia.it/en/event/workshop-outcome-meausures-for-gene-therapy/
LOCATION:Roma\, P.zza S. Onofrio n. 4
ATTACH;FMTTYPE=image/jpeg:https://usheritalia.it/wp-content/uploads/2025/06/Presidente.jpg
END:VEVENT
BEGIN:VEVENT
DTSTART;VALUE=DATE:20250619
DTEND;VALUE=DATE:20250622
DTSTAMP:20260113T152636Z
CREATED:20250619T093045Z
LAST-MODIFIED:20260113T152636Z
UID:2825-1750291200-1750550399@usheritalia.it
SUMMARY:SIMPOSIO INTERNAZIONALE STICHTING USHER SYNDROOM
DESCRIPTION:The first official outing of USHER Italia A.P.S. took place in an international context\, namely the INTERNATIONAL SYMPOSIUM OF THE USHER SYNDROME FOUNDATION\, held from June 19 to 21\, 2025\, in Nijmegen (Netherlands).\nAn international symposium of this caliber had been awaited for seven years\, and after attending\, we can confirm that it lived up to expectations.\nUSHER Italia A.P.S. was the only Italian association representing people with Usher Syndrome to participate in the event. \nOn June 19 and 20\, dozens of presentations were given by scientists from all over the world\, who shared the results of their studies and upcoming projects on various topics\, summarized as follows:\nA. Genetics and diagnosis of Usher syndrome;\nB. Modeling of Usher syndrome in vitro and in vivo;\nC. Molecular mechanisms of the pathogenesis of Usher syndrome;\nD. Therapeutic strategies for Usher syndrome;\nE. Clinical developments: beyond the state of the art in phenotyping\, biomarkers\, and clinical endpoints. \nThe most important topic\, both in terms of number of presentations and information provided\, was the deepening of knowledge and various therapeutic approaches\, particularly gene therapy for the treatment of “retinitis pigmentosa.” Meanwhile\, the status of trials on innovative therapies for hearing loss does not yet allow significant results to be appreciated\, and cochlear implants remain the established and functional solution to date. \nAmong the most anticipated and relevant presentations was the only one given by an Italian scientist\, Dr. Prof. Francesco Testa from the Ophthalmology Clinic of the University of “Luigi Vanvitelli” in Naples. The scientist shared interesting and encouraging updates on the ongoing regenerative gene therapy clinical trial on Usher type 1-b patients. \nThere was a strong participation of scholars and people with Usher Syndrome from the USA. We established connections and exchanged communications with many of them. \nThe hosts and event organizers were fantastic: always present\, proactive\, collaborative\, and enthusiastic\, they welcomed us with friendship and interest. We hope to carry out projects together\, both because they are highly active scientific experts and because they represent a community open to dialogue with people from other countries. \nThroughout the event\, International Sign Language interpreters were present\, allowing full understanding and sharing of every piece of information by all. \nThe Congrestival\, called the Festival of the Senses\, took place on June 21\, 2025\, and was an exceptional and highly successful event: a gathering of the international Usher community that transmitted great enthusiasm to everyone. \nIn particular\, the open discussion and the many questions and answers among people and families of all ages and from various social and geographical backgrounds was a unique enrichment\, as we spent hours talking together in a large room with hundreds of participants! \nWe all came away convinced that\, despite severe and evident sensory limitations\, people with Usher Syndrome can socialize thanks to a great capacity for adaptation\, living every moment of life with satisfaction. \nIndeed\, people with Usher Syndrome\, when sharing their experiences\, highlighted that they know how to live a full life\, explaining that the fundamental condition is the willingness to truly open up and engage with everyone\, having the intent to communicate to the interlocutor any lack of understanding of their words\, the need for help\, and also the way to overcome the obstacle that hinders the relationship. \nOtherwise\, Usher people risk isolating themselves\, closing off in their home and family\, giving up on living in the world. \nA very important moment of the Congrestival was the announcement of the winner of the Usher Crusher Grant\, awarded for the best project receiving a non-repayable grant of 300\,000 Euros. \nA few weeks earlier\, the Commission had informed us that our preclinical and clinical therapy project\, presented together with our Scientific Committee and the “Bambino Gesù” Pediatric Hospital in Rome\, although considered very interesting\, had not won the prize. \nThe award went to the trial by Dr. Prof. Marko Hawlina (one of the world’s leading experts\, who practices both in Ljubljana\, Slovenia\, and Trieste\, Italy) for gene therapy targeting Usher type 2-a: the “mini gene strategy.” \nWe thus met Dr. Prof. Hawlina and parted with the promise to meet again soon and start collaborative relations\, given the proximity and shared goals. \nAnother fundamental relationship for achieving our objectives is the one established with Mag. Dominique Sturz\, Patient Advocate and founder of Usher Initiative Austria\, one of the most authoritative and representative members of the ERN in Europe\, ambassador of the Usher Coalition\, well-known in the Usher community not only in Europe\, and active for over 15 years in the associative field. With her\, we have already started some projects to strengthen the associative initiative in Europe. \nWe can conclude by stating that we participated in an event that was important not only from an informational point of view but\, above all\, from a relational perspective\, as it allowed us to meet participants of an international network that will enable us to share ideas\, experiences\, and projects for the immediate future. \nAnd now our flyers and business cards are traveling around the world\, while international relations are growing. \nTo learn more and read summaries of the presentations\, click on the following link: https://www.ush2025.org/en/terugblik/ \n\n			\n				\n			\n				\n				Sergio M. Bologna per USHER Italia A.P.S.\n				\n			\n				\n			\n				\n				Sergio M. Bologna e Famiglia Adell\n				\n			\n				\n			\n				\n				Sergio M. Bologna e Dr Marko Hawlina\n				\n			\n				\n			\n				\n				Sergio M. Bologna e Dominique Sturz\n				\n		\n\n 
URL:https://usheritalia.it/en/event/simposio-internazionale-stichting-usher-syndroom/
LOCATION:Nijmegen\, Belgium
CATEGORIES:Categoria esempio
ATTACH;FMTTYPE=image/png:https://usheritalia.it/wp-content/uploads/2025/05/event-simposio.png
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