Entries by The Snow Foundation

Expanding the spectrum of white matter abnormalities in Wolfram syndrome: A retrospective review

Publication: frontiersin.org | Publication Date: 14 October 2025 Authors: Justin Simo, Heather M. Lugar, Elka Miller, Adi Wilf-Yarkoni, Yael Goldberg, Ayça Kocaağa, Shoichi Ito, Sirio Cocozza, Giulio Frontino, Cristina Baldoli, Aziz Benbachir, Catherine Ashton, Guy Rouleau, Tamara Hershey, Yann Nadjar, Roberta La Piana Background and Objectives Wolfram syndrome (WFS) is a genetic disorder mainly caused […]

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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, […]

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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 […]

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Non-syndromic WFS1 mutations are not a rare cause of diabetes in Pakistan

Publication: onlinelibrary.wiley.com | Publication Date: 29 April 2025 Authors: Ibrar Rafique, Asif Mir, Natalija Popovic, Alix Vanpoperinghe, Muhammad Arif Nadeem Saqib, Asher Fawwad, Abdul Basit, Muhammad Naeem, Constantin Polychronakos, Angeliki Makri Abstract We examined 68 Pakistani patients with young onset diabetes and found a surprisingly high rate (4/68) of non-syndromic WFS1 diabetes, a recently described […]

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Long term clinical follow up of four patients with Wolfram syndrome and urodynamic abnormalities

Objectives: Wolfram syndrome is characterised by insulin-dependent diabetes (IDDM), diabetes insipidus (DI), optic atrophy, sensorineural deafness and neurocognitive disorders. The DIDMOAD acronym has been recently modified to DIDMOAUD suggesting the rising awareness of the prevalence of urinary tract dysfunction (UD). End stage renal disease is the commonest cause of mortality in Wolfram syndrome. We present […]

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Gonadal function in males with WFS1 spectrum disorder (Wolfram syndrome)—A European cohort perspective

Publication: onlinelibrary.wiley.com | Publication Date: 29 April 2025 Authors: J. Rohayem and O. Cunningham Abstract Background WFS1 spectrum disorder, also known as Wolfram syndrome (WS) is an ultra-rare (<1:500,000; ORPHA: 3463) monogenic (OMIM #222300) progressive neuroendocrine and neurodegenerative disorder, characterised by early-onset insulin-dependent diabetes, optic atrophy, central diabetes insipidus and sensi-neuronal deafness. It is caused […]

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Positive Long-Term Results from Phase 2 HELIOS Clinical Trial of AMX0035 in People with Wolfram Syndrome

Amylyx Pharmaceuticals, Inc. today announced positive Week 48 data from the Phase 2 open-label HELIOS clinical trial of AMX0035 (sodium phenylbutyrate [PB] and taurursodiol [TURSO, also known as ursodoxicoltaurine]) in adults living with Wolfram syndrome. These results were presented at the Joint Congress of the European Society for Pediatric Endocrinology (ESPE) and the European Society […]

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GABA and GLP-1 receptor agonist combination therapy modifies diabetes and Langerhans islet cytoarchitecture in a rat model of Wolfram syndrome

Publication: biomedcentral.com | Publication Date: 06 March 2025 Authors: Jagomäe, T., Velling, S., Tikva, T.B. et al. Abstract Wolfram syndrome (WS) is a rare autosomal disorder caused by WFS1 gene mutations, currently lacking approved treatments. Preclinical and clinical reports suggest that diabetes medications, such as glucagon-like peptide-1 receptor agonist (GLP1-RA), slow WS-related diabetes and neurodegeneration, […]

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