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AntiSense Oligonucleotides (ASOs), for the treatment of Wolfram syndrome by La Jolla Labs

La Jolla Labs, USA

  • Members of The Snow Foundation met with representatives from La Jolla Labs to investigate the role of RNA directed gene therapy, specifically AntiSense Oligonucleotides (ASOs), for the treatment of Wolfram syndrome.
  • La Jolla Labs undertook an investigation to determine the potential for ASO application, specifically for the treatment of autosomal dominant Wolfram-related disorder.
  • The head of research at LJL presented a review of the potential use of ASO therapy for WS based on disease biology and different ASO strategies.
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WFS1 Gene Therapy to correct chronic inflammation due to Wolframin loss of function mutations

Principal Investigators- Drs. Raniero Chimienti and Giulio Frontino, Milan, Italy

  • This work is done in collaboration with Telethon Foundation, Italy
  • This project is designed to test whether immune cells that have been genetically corrected can help improve the inflammatory symptoms of Wolfram syndrome in a mouse model.
  • By transplanting genetically corrected WS immune cells into mice with Wolfram syndrome, researchers will study whether inflammation is reduced and whether the progression of Wolfram syndrome symptoms can be slowed by addressing/reducing inflammation.
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Clinical evaluation of Idebenone as a Potential Treatment for Wolfram Syndrome

Extending into 2026

Principal Investigator-Felipe Chicani, MD, Sao Paolo, Brazil

  • This patient comparison study will evaluate WS patients who have been treated with idebenone compared to an untreated control group to determine if idebenone can help slow the progression of WS symptoms, with a focus on vision loss.
  • This project is currently in the planning stage and will last a minimum of 12-24 months
  • Data from the past several years, current data, and data going forward will be evaluated.
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Gene Therapy Treatment of Wolfram Syndrome

Principal investigator Dr. Cécile Delettre-Cribaillet, INM, Montpelier, France

Extending into 2026:

  • This work will be done in conjunction with a grant from the Be a Tiger Foundation
  • This is an ongoing project evaluating and validating the potential for WFS1 wildtype gene transfer as atreatment for Wolfram syndrome.
  • Preclinical data have already shown the ability of gene therapy to correct symptoms of Wolfram syndrome in a WFS1 knock-out model.
  • New steps in the project include ensuring that overexpression of WFS1 in cells will not impair this correction and validating the already reported promising effects of gene therapy in a knock-in mouse model that more precisely mirrors human WS.
  • This complete data set will help us to determine the efficacy of gene therapy for preserving vision in WS
  • This work will provide validation and efficacy data to move gene therapy closer to development for WS.
  • Corrected WFS1 will be delivered with a retina-specific vector, directly to the retina with direct injection to the eye in a WS knock-in (more similar to humans than a knock-out) mouse model.
  • Corrected WFS1 will be delivered systemically with a different vector, also in a knock-in mouse model, to determine if multiple organs (including pancreas and retina) can be treated in WS with a single treatment.
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From the Desk of Dr. Sarah Gladstone

Chief Medical and Scientific Officer

From the Desk of the Dr. Sarah Gladstone, CMO/CSO

As we enter 2026 and look back on 2025, it’s remarkable how much progress has been made in such a short time.Scientific research can be challenging—there are periods when progress feels slow and frustrating, and answers seem just out of reach. Then there are moments when things finally come together: the data start to make sense, key questions are answered, and important milestones are achieved. We are now in a time of data coming together. What follows is a look back at the progress made in 2025, and an exciting look ahead at the possibilities now opening up for the year to come. Treating Wolfram syndrome is not a one-size-fits-all approach. The condition itself is not the same for everyone. Each person with Wolfram syndrome has a unique combination of symptoms based on their specific genetic variation and individual biology. Because of this, treatment may differ from person to person depending on age, genetic findings, and which symptoms are most prominent. Even though treatments may differ, the overall treatment strategy follows a clear and consistent path. The goals remain the same:

  • First, to slow the progression of cell stress and dysfunction;
  • Second, to prevent ongoing cell death;
  • Ultimately, to replace damaged cells with new, healthy cells.

Based on the expressed needs of the Wolfram syndrome community, current treatment efforts focus on the central nervous system (including the brain, retina, vision, and hearing), the pancreas (diabetes), and bowel and bladder function, while also addressing other associated symptoms. It has been an incredibly busy and fulfilling year…. and decade! We are profoundly thankful to our donors and supporters—you are the reason this work happens. Your generosity fuels every step forward, and we are so grateful to have you as part of this community. Because of you, we are moving forward with energy, hope, and momentum. The year ahead is shaping up to be an exciting one, and we can’t wait to celebrate and share our progress with you in 2026!

— Dr.Sarah Gladstone

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Wolfram Syndrome Global Awareness Day 2025

Wolfram Syndrome Awareness Day is held on October 1st each year. This day was chosen because it is the anniversary of the publication of a 1998 paper on the discovery of the WSf1 gene associated with the syndrome. The day is dedicated to raising awareness of this rare genetic disorder, which affects the body’s metabolism, nervous system, and senses, and to encouraging support for research and treatments.

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FDA Patient Listening Session

On May 21, 2025, The Snow Foundation convened a group of patients (3) and caregivers (4) from across the Wolfram syndrome (WS) community for a virtual patient listening session with over 40 representatives from the Food and Drug Administration (FDA). The small, informal virtual meeting was designed to allow community members to share their lived experiences, perspectives, and unmet needs with FDA.

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Dr. Vania Broccoli

National Research Council of Italy: Project application

Title: Novel experimental therapies to treat blindness in Wolfram syndrome
Applicant: Dr. Vania Broccoli

San Raffaele Hospital/CNR-Institute of Neuroscience, Milan Italy

Eye gene therapy for restoring WFS1 gene function in Wolfram mice

Extending into 2026:

  1. This work will be done in conjunction with a grant from the Be a Tiger Foundation
  2. This 12-month project aims to determine which cells in the retina will need to be the target of gene editing or gene therapy vectors.
  3. Understanding which retinal cells are affected will help gene editing provide a more complete cure for visionloss in Wolfram syndrome.

Read more

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