As we look ahead to 2026, there is real momentum—and real hope—building in the world of Wolfram syndrome. Promising scientific advances and growing collaboration across the global community are bringing us closer than ever to meaningful treatments. At The Snow Foundation, we remain steadfast in our mission and proud to embrace our 2026 motto: Advancing Science, Sustaining Hope, and Accelerating Cures. This will be an impactful year, fueled by determination, innovation, and the unwavering support of our community. We invite you to read on to learn more about the progress made, the impact achieved, and the vital work still ahead.
Families affected by Wolfram syndrome cannot afford to wait.
Because of our donors, research is moving forward, and hope is growing—but time matters. Every donation makes a difference, and no amount is too small.
Please donate today and stand with the families and researchers counting on us to accelerate progress toward treatments and a better future. Together, we can turn urgency into impact—and hope into reality.
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!
“Cell-type specific WFS1 gene therapy to treat blindness in Wolfram syndrome mice”
Principal investigator- Vania Brocolli, Milan, Italy
This work will be done in conjunction with a grant from the Be a Tiger Foundation
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.
Understanding which retinal cells are affected will help gene editing provide a more complete cure for visionloss in Wolfram syndrome.
“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.
“Clinical evaluation of Idebenone as a Potential Treatment for Wolfram Syndrome”
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.
“Gene Therapy Treatment of Wolfram Syndrome”
Principal investigator Dr. Cécile Delettre-Cribaillet, INM, Montpelier, France
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
“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.
“Treatment Development Collaboration with Odylia Therapeutics”
USA
The Snow Foundation has partnered with Odylia Therapeutics to bridge the gap between preclinical/bench
research and clinical trials.
Odylia provides expert guidance and advice to take potential treatments from the lab to clinical trial and
accelerate treatment development.
We will continue to work together to forge a path forward for treatments like gene editing and regenerative therapy for WS
“Zebrafish Screen of compounds for individual or combination treatment of WS”
Principal Investigator Dr.Benjamin Delprat, Montpellier, France
With help from the WS patient community and a special shout-out to our dear friend Nufar, a list of 30 widely available and potentially therapeutic compounds was compiled to be evaluated for the potential treatment of WS.
We are completing negotiations to test these compounds individually and in combination in a WS zebrafish model.
We aim to determine the most effective and accessible compounds that may serve as a treatment “cocktail” to aid in slowing the progression of symptoms in WS.
“MRI evaluation of Neurological findings in WS”
Principal Investigators Dr. Lucas Fernandez Brillet, and GemaEsteban Bueno, MD, Barcelona, Spain
Broad categories of neurodegenerative findings in WS have been proposed and established through prior work done by WS researchers.
This project, proposed by Dr. Lucas Brillet, aims to determine in more detail the areas of the brain that are affected in WS, and to stratify these results with respect to different WFS1 mutations.
This project will help us better understand the natural history of WS, and better understand mutation-specific symptoms that may be amenable to different types of treatment to slow progression.
“Mapping the WFS1 Interactome in Wolfram Syndrome: From Mechanisms to Therapeutic Leads.”
Principal Investigator Dr. Mariana Igoillo-Esteve, Co-Investigator Ane Olazagoitia-Garmendia, Brussels, Belgium
New potential WFS1 interactors were discovered by Dr. Igoillo-Esteve in 2025.
This work aims to validate the new interactome data obtained in 2025, uncover the molecular pathways in which they are involved, and characterize their roles in cellular function, ER stress, and survival.
Following this interactome identification, this project will prioritize and test compounds targeting the most relevant pathways identified.
This project aims to
Uncover cellular mechanisms that result in Wolfram syndrome by identifying molecular functions of WFS1
Pave the way for innovative therapeutic strategies.
“Development of a High-Throughput Sensor Library to Correct Over 60% of
Known Pathogenic Variants in WS”
Principal Investigator Dr. Samagya Banskota, Boston, USA
This project will attempt to make gene editing available to all WS patients who have a variant that involves a single base pair change (missense variant). Over 60% of people with WS with documented genotypes may benefit from this strategy.
This approach is important because a single attempt at gene editing for WS, right now, will only treat one patient/variant at a time.
This work by Dr. Banksota will attempt to create a “Platform” approach in which the basic gene-editing “machinery” will be the same, only the specific variant to be corrected will differ. In this way, the same drug/treatment could be used for over 60% of people with WS, regardless of their many different variants.
Such a platform approach will save many millions of dollars in drug development costs and many years of drug development time.
This project is very timely, given the gene editing preclinical data being generated now and in the near future by Drs. Urano, Banskota, and De Groef. If successful, this platform library will open the door to applying this same technique to all WS patients with missense variants concurrently in a potential gene editing/base editing clinical trial for WS.
“Gene therapy to treat Wolfram Syndrome”
Principal Investigator Cécile Delettre-Cribaillet, Montpelier, France
As noted above, this project is based on and continues the prior years’ work developing gene therapy for the treatment of 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.
CLINICAL TRIAL UPDATES
Amylyx, Helios Clinical Trial
HELIOS, the Phase 2 open-label trial of AMX0035 (sodium phenylbutyrate and taurursodiol) in people with Wolfram syndrome, remains ongoing, though it is no longer enrolling new participants.
In May 2025, Amylyx shared long-term Week 48 data from the trial, and these results continue to inform plans for the next phase of development.
In addition to analyzing the data from HELIOS, the company has been gathering feedback from physicians, researchers, andmembers of the community to inform the Phase 3 study design.
Pending alignment with the FDA, Amylyx plans to initiate a focused, pivotal Phase 3 trial of AMX0035 in Wolfram syndromeand looks forward to sharing future updates with the community.
Amylyx is deeply grateful to the Wolfram community for their continued collaboration and engagement.
TREATWOLFRAM Clinical Trial-Interim Results
For the latest results on the TREATWOLFRAM international clinical trial of sodium:
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 the FDA.
This was the first opportunity for engagement between the community and the Agency and representatives from several areas of FDA, including the Center for Biologics Evaluation and Research, and Center for Drug Evaluation and Research. Specifically, the Office of New Drugs/Office of Neuroscience, and Office of New Drugs/Office of Rare Diseases, Pediatrics, Urology and Reproductive Medicine/Division of Rare Diseases and Medical Genetics, attended.
For more information, click here
CLINICAL GUIDELINES FOR WOLFRAM SYNDROME
We are excited to announce that an international core group of Wolfram syndrome clinicians and foundations has been working together over the past 12 months to develop consensus guidelines for the diagnosis and treatment of Wolfram syndrome. These guidelines will be distributed internationally to help clinicians and patients have access to more consistent, efficient, and effective diagnostic options and treatments.
The Snow Foundation continues to sponsor and maintain the WS Global Patient Registry in collaboration with the National Organization for Rare Disorders. This registry is the only patient-owned and maintained WS registry. We currently have more than 150 registrants, helping to further our understanding of the natural history of Wolfram syndrome, and ensuring that these patients receive critical information about treatment, research, resources, and other initiatives.
In 2024/2025, the registry was translated into French and Spanish, increasing patient registrations. We are currently translating surveys into German, Italian, and Portuguese, with a 2026 launch planned! This year, we hope to double the number of registrants to 300! Sign up today at wsglobalregistry.iamrare.org
Washington University School of Medicine will be hosting Rare Disease Day on February 26, 2026. Stephanie Snow Gebel of The Snow Foundation
and Dr. Fumihiko Urano will deliver lectures.
Patients and families affected by Wolfram syndrome or any rare diseases are warmly invited to attend, either in person or remotely. A limited number of families who attend in person will be eligible for a scholarship from the Barnes-Jewish Hospital Foundation. Please register using the link below. https://rarediseaseday.wustl.edu/
If you are interested in applying for a scholarship, kindly email wolframsyndrome@wustl.edu
11th International
Wolfram Syndrome Symposium
Berkshire, England June 3rd-4th
The Snow Foundation and Wolfram Syndrome UK will host the 11th International Wolfram Syndrome Symposium. Over 40 leading researchers and scientists from around the world specializing in Wolfram syndrome will participate. Although this is a private symposium, all information will be made available to the public after the conference concludes. For more information, please get in touch with Stephanie@thesnowfoundation.org
15th ANNUAL WSUK CONFERENCE!
Saturday, September 26th,
2026, at Mercure Daventry Court Hotel, Sedgemoor Way, Daventry, England
You will have the chance to speak with medical experts outside the clinic environment and to meet other families and individuals affected by WS. There will be various workshops and child-friendly activities to participate in.
The Snow Foundation
7th Annual Golf Shootout
Monday, October 5th
At Bogey Hills Country Club
Sponsorships/Tickets Available View Details
WOLFRAM SYNDROME FACEBOOK SUPPORT GROUPS
WOLFRAM SYNDROME GLOBAL SUPPORT GROUP
Join our Wolfram syndrome community for support and companionship. This private Facebook group provides guidance and suggestions, such as the best questions to ask physicians and how to address symptoms other families may have experienced. You can also join anonymously to learn from other families with older children who have received this diagnosis. These families get what it’s like to live in the rare disease lane and will help you navigate this journey.
WOLFRAM RISING FACEBOOK FOR YOUNG ADULTS
We’re excited to announce the launch of Wolfram Rising, a private peer-led Facebook support group for young people (ages 15–30) living with Wolfram Syndrome. This group is a safe, welcoming space where you can be yourself, connect with others who truly understand what you’re going through, and share experiences, laughter, and support. Our young WS community will lead the group, bringing their rich lived experiences to every conversation. A heartfelt thank you to Emily Bejerano, Emily Kohler, and Tom Darley for managing the page and warmly welcoming our community.
SNOW FOUNDATION UPDATES
PAT GIBILISCO
Pat will be stepping down from the role of Patient Administrator. We appreciate all the dedication and hard work Pat has shown during her time in this position. Pat, a pioneering figure in the Wolfram syndrome community, was the Co-Founder of the first Wolfram Syndrome Website and Family Support Group. This initiative, which she launched in 1998 when her 12-year-old daughter, Lauren, was diagnosed with Wolfram syndrome, was a beacon of hope for many. Pat’s proactive approach led her to contact Dr. Timothy Barrett, the only physician specializing in this disease at the time. With Dr. Barrett’s help, she was connected to other Wolfram families, including Rob Birkinshaw, the Co-founder of the first WS Website. Pat contacted the late Dr. Alan Permutt in 2000, who discovered the WFS1 gene. Dr. Alan Permutt conducted the first Wolfram syndrome research clinic in 2010, which included Lauren and six other patients.
Pat has been the Snow Foundation’s Patient Administrator and Wolfram syndrome Facebook page admin for over four years. She has always been passionate about educating and supporting patients, families, and caregivers, providing valuable resources and connecting them with others affected by this rare disease. Her commitment has helped grow the advocacy community to over 500 families worldwide.
Since her daughter Lauren sadly passed away from Wolfram syndrome in 2021, Pat became an even more passionate advocate for Wolfram syndrome. Our community truly couldn’t have asked for a more caring and dedicated champion than our wonderful momma bear, Pat! We will deeply miss her presence in our daily lives, but we are so grateful that she will continue to serve as a board member. If you want to contact Pat, please email her at pat@thesnowfoundation.org.
EMILY KOHLER
We are pleased to welcome Emily Kohler, who will assist with the Wolfram syndrome Global Facebook administration and assume some of the responsibilities previously held by Pat Gibilisco. She is 27 years old and from Media, Pennsylvania. Emily was diagnosed with Wolfram syndrome on December 20, 2021, at the age of 23. Although the past few years have presented challenges, she is actively learning to manage and adapt to her circumstances. Ever since she first suspected she had Wolfram syndrome, she’s found a deep sense of purpose in living with it, hoping to make a positive impact and assist others. She looks forward to supporting others and continuing the legacy established by Pat Gibilisco.
MICHAEL WALLACE
We are pleased to welcome Mr. Michael Wallace to The Snow Foundation Team. Michael’s journey with The Snow Foundation is truly heartfelt. As a former senior content producer at Children’s Hospital Los Angeles, he loved sharing patient stories that helped raise funds and awareness. During his executive MBA, Michael learned about Wolfram syndrome through the story of his friend and WS patient, Tera Zegoni. Although Tera eventually lost her battle with the condition, her inspiring legacy motivated Michael to team up with The Snow Foundation. He brings his storytelling talents to help spread awareness and support their important mission to find a cure. Michael has extensive experience working with patients and their families.
Thank you to all patients, physicians, scientists, and loved ones who have generously shared their stories and experiences. Your bravery and commitment serve as an inspiration to us all. Stay tuned — more interviews and stories will be shared throughout theyear. Click the link to watch a compelling new video featuring testimonials from our international WS community https://youtu.be/Svp4hDsE5iU
2025 FUNDRAISERS
THANK YOU!
TSF would like to thank the Duncan
and Flexer Families for their unwavering support. Organizing fundraisers is challenging, but their dedication is exemplary. Their support is vital to our mission. We also thank McCarthy Building Companies for its annual fishing tournaments, which generate funds and raise awareness. We are grateful.
Duncan Family-Fishing for Ford Gala and Fishing Tournament Flexer Family-Fighting for Flexer Family Bingo Night Facebook Family Fundraisers-Birthdays & Rare Disease Day McCarthy Construction-Fishing Tournament, Honoring Alex Bieser In Honor of Wolfram Warriors–Facebook Fundraisers, General Donations
In Memory of- Let us remember and honor our beloved Wolfram Warriors, who courageously fought but lost their battle in 2025. Their bravery and spirit will always inspire us and remain in our hearts.
SNOW FOUNDATION’S SPONSORS
THANK YOU!
THANK YOU FOR YOUR CONTINUED SUPPORT Please Consider Donating Today
We are immensely grateful for the unwavering support of our donors, who help us accelerate the research needed to improve the lives of those living with Wolfram syndrome. We strongly believe that by working together, we can achieve great things.
