Thank You to Our 2025 Fundraisers!

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.

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Welcome Michael Wallace to The Snow Foundation

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.

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Welcome 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.

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Pat Gibilisco Stepping Down from Patient Administrator

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.

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Wolfram Rising Facebook Group 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.

Learn More

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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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TREATWolfram — What’s next? – Virtual Global Research and Trial Updates

Overview

Professor Timothy Barrett presented updates on the Treat Wolfram trial, focusing on the use of sodium valproate for Wolfram syndrome. The trial, involving 42 valproate-treated and 21 placebo-treated patients, aimed to assess vision loss over 36 months. Despite a younger, healthier placebo group, valproate showed trends towards stabilizing HbA1c and insulin-adjusted HbA1c, and increasing C-peptide levels. However, no statistically significant reduction in visual acuity was observed. Future plans include reanalyzing data with a better-matched placebo group and exploring new treatments. The trial’s natural history data will inform future trial designs.
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Amylyx HELIOS Trial Week 48 Results and Updates – Virtual Global Research and Trial Updates

Overview

Jamie Timmons from Amylyx presented the HELIOS trial results for Week 48, focusing on the investigational therapy AMX 35 (sodium phenylbutyrate and ursodil) for Wolfram syndrome. The trial, involving 12 participants, showed improvements in pancreatic beta cell function, insulin secretion, and glycemic control, with a significant reduction in hemoglobin A1c levels. The therapy was generally well-tolerated, with diarrhea being the most common side effect. The phase three trial is planned for the second half of next year, with a larger participant pool and potential inclusion of younger patients and those with single-allele mutations. Use is not currently available due to drug supply limitations.
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Virtual Global Research and Trial Updates

Overview

Vania Broccoli presented on Wolfram syndrome, highlighting the role of the WFS1 gene and its protein, Wolframin, in protein synthesis and folding. She discussed the impact of WFS1 mutations on retinal ganglion cells, leading to optic atrophy and vision loss. Broccoli’s research involved gene replacement therapy using adeno-associated viral vectors to restore Wolframin function in both glial cells and retinal ganglion cells in mice. Preliminary results showed improved visual activity and reduced retinal ganglion cell loss in treated mice. The discussion also covered ongoing clinical trials with amalex and the challenges of obtaining GLP-1 agonists in the UK.
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Restoring Sight: Therapeutic Perspectives in Wolfram disease – Virtual Global Research and Trial Updates

Overview

Dr. Cécile Delettre-Criballet presented on therapeutic perspectives for Wolfram disease at a global virtual conference. Her team at the Institute for Neuroscience of Montpellier focuses on hereditary optic neuropathies and anterior segment diseases. They use genetic diagnostics, pathophysiological studies, and clinical trials to develop treatments. Key findings include the effectiveness of gene therapy in mouse models, showing improved visual acuity and reduced axonal damage. They also explored pharmacological approaches using synthetic polyamines, which enhanced retinal ganglion cell growth in zebrafish models. The discussion highlighted the potential of these therapies to address Wolfram syndrome’s optic atrophy and other symptoms.
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