Autumn-Winter

DECEMBER 2024

Dear friends,

As the golden leaves have fallen and the crisp air of autumn gives way to the festive spirit of winter, we are filled with hope and gratitude for the progress we've made this year. This season brings us closer to the holidays, a time to reflect on the milestones achieved in our fight against Usher Syndrome and retinitis pigmentosa.

This past 28th of November, we proudly hosted The Night of Vision in Spain, an inspiring fundraising event that brought our community together to raise awareness and vital support for our mission.

As we embrace the season of giving, we look forward to sharing more updates, groundbreaking advances, and exciting plans for the year ahead with you. Thank you for being an essential part of this journey.

Usher Events to Raise Awareness and

Fund Research

La Nit de la Visió (The Night of Vision): An Evening of Hope and Action

On November 28, 2024, at the stunning Recinte Modernista de Sant Pau in Barcelona, *La Nit de la Visió* brought together supporters, researchers, and advocates to shine a light on Usher Syndrome and related conditions.

The evening was more than just a fundraising event—it was a movement. Guests enjoyed a cocktail dinner, live music, and a compelling exhibition of stories from individuals living with Usher Syndrome. The event provided an opportunity to connect, share knowledge, and learn about the latest advancements in research on Usher Syndrome, retinitis pigmentosa, rare diseases, and orphan drugs, all within the breathtaking setting of one of Barcelona's most iconic venues.

With two donation packages, a Row 0 option for those unable to attend, and opportunities for sponsorship, La Nit de la Visió (The Night of Vision) became a platform for action. Together, we raised awareness, funding, and hope for the future of Usher Syndrome research.

This evening was not just an event—it was a call to action. By coming together, we made strides toward positioning Usher Syndrome as the next condition to achieve breakthroughs in treatment and, one day, a cure.

Let’s continue to work together to change the future of blindness.

What a night!

Upcoming Events

24-Hour Ultra Distance Track Event : Mario Raúl Martínez & SSNEU

Mario Raúl Martínez lives with Usher Syndrome Type 3 and runs to raise awareness and support our cause to cure childhood blindness. Join Mario at the "24 Hours of Athletics on the Joan Serrahima Stadium Track" and support our mission!

Support Mario and the Usher Cause

Cinc Cims Race

Cinc Cims 2025 Runs for Usher: RunForUsher Joins SAVE SIGHT NOW EUROPE in Support of Usher Syndrome.

Date: January 12th, 2025

Place: Corbera de Llobregat

Race Against Time to Overcome Usher Syndrome Type 1B.

Visite the site

AAVantgardeBio launches a pioneering clinical trial for Usher 1B

It is with great hope that we announce the launch of AAVantgardeBio's LUCE-1 clinical trial for Usher Syndrome Type 1B, a Phase 1/2 open-label clinical trial to assess the safety and tolerability of AAVB-081. The first patient has already been dosed!

AAVantgarde also announces first results at FLORetina 2024, presenting preliminary safety data on the first two subjects dosed in the LUCE-1 trial, evaluating AAVB-081 (Dual-AAV) for Retinitis Pigmentosa associated with Usher Syndrome Type 1B.

This marks an important milestone as the initial results begin to shed light on the potential of this innovative treatment.

Read the Press Release

The possibility of participating in a clinical trial is becoming an increasingly tangible reality, but it can also raise questions and fears. Here, we provide a brief overview of what a clinical trial entails for a patient wishing to participate.

What is a Gene Therapy Clinical Trial?

It’s a research study that tests the safety and effectiveness of a new gene therapy in humans. This involves introducing genetic material into a person’s cells to treat or prevent diseases. For Usher Syndrome Type 1B, the therapy aims to correct the genetic defects causing vision, hearing, or even balance loss.

How is Gene Therapy Delivered?

The therapy is carried through a harmless virus called Adeno-Associated Virus (AAV), acting as a carrier for the new gene. It is carefully injected into the retina—the light-sensitive tissue at the back of the eye—through a minimally invasive surgical procedure.

Steps to Participate in a Clinical Trial:

Accurate Diagnosis: Confirming the specific genetic mutation causing Usher Syndrome with a legal document is essential.
Eligibility Screening: Medical evaluations ensure the patient meets all safety and efficacy criteria.
Informed Consent: Patients receive detailed information to make an informed decision.
Treatment and Monitoring: After administration, patients are closely monitored for responses and side effects.

Why is an Accurate Diagnosis Important?

A precise genetic diagnosis ensures patients receive the most effective treatment tailored to their mutation and helps determine eligibility for groundbreaking trials like LUCE-1.

Gene Therapy vs. Oral Treatments

Unlike oral treatments like NAC (N-Acetylcysteine), which work systemically, gene therapies are targeted treatments delivered directly to the affected area—here, the retina—via an injection. This targeted approach has the potential to provide long-lasting or even permanent solutions by correcting the underlying genetic defect.

Learn more about the LUCE-1 Trial and AAVantgardeBio's groundbreaking work here.

Stay up to date with the latest news

Don't miss our recent activities! Click here to learn about our participation in the World Congress on Orphan Drugs, EURETINA, and the Vision Institute in Paris.

You can also check out the publication of the First Report on Rare Visual Diseases by Retina Murcia Association and its Research Group on Rare Visual Diseases (GISERV).

The Power of Your Support

Advancing research and accelerating processes requires significant resources and the ability to manage and direct them effectively. Your support as a donor, sponsor, or investor is invaluable. We ask for your help in speeding up progress by funding essential research projects and potential clinical trials, using your voice to raise awareness about Usher Syndrome, and getting involved to build networks and connections.

Together, we can move mountains and change the future

for all children with Usher Syndrome.

DONATE

As the year ends, we thank you for being part of our journey toward a brighter future for those affected by Usher Syndrome. Your support brings hope and progress closer every day.

This holiday season, may joy, love, and hope fill your heart. Together, let’s continue shining a light into the New Year.

Merry Christmas and best Wishes for 2025!

We’ll stay in touch!

Autumn-Winter

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