Entries by The Snow Foundation

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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