January 31, 2026 Dr. Fumihiko Urano Dear Friends, I hope the new year has started well for you and your family. Thank you, as always, for being part of the Wolfram syndrome community. Your trust, patience, and partnership mean a great deal to us. Everything we do in the clinic, the clinical trial unit, and […]
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 […]
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 […]
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 […]
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 […]
Overview Dr. Fumi Urano from Washington University discussed Wolfram Syndrome clinical trials, focusing on advancing treatments from oral medications to gene editing. Wolfram Syndrome, a rare genetic disorder with a median age of onset at 6 for diabetes and 11 for optic nerve atrophy, affects 1 in 250,000 to 700,000 people. Dr. Urano highlighted the […]
Overview The meeting discussed Wolfram syndrome, focusing on its physiopathology and potential therapies. Benjamin Delprat presented his research from Inserm, Montpellier, highlighting the role of the WFS1 protein and its interaction with NCS1 and IP3R in cellular calcium transfer. He proposed gene therapy using self-complementary AAV9 vectors to overexpress NCS1 and pharmacological therapy targeting the […]
Overview Dr. Giulio Frontino and Amelia Caretto presented preliminary results from a trial on Tirzepatide monotherapy for Wolfram syndrome. The trial, involving 17 patients (including children and adults), showed stabilization of C-peptide levels in half of the patients, with a median increase of 15% over two years. Tirzepatide improved beta-cell function and reduced inflammation markers. […]
Publication: cureus.com | Publication Date: 6 May 2025 Authors: Nadia Echcharii, Nabila Chekhlabi, Amal Haoudar, Nezha Dini Abstract Wolfram syndrome (WS) is a rare, autosomal recessive neurodegenerative disorder characterized by progressive multisystemic involvement, including diabetes mellitus, optic atrophy, diabetes insipidus, sensorineural hearing loss, and urological dysfunction. While diabetes mellitus is typically the first clinical sign, […]
Publication: cureus.com | Publication Date: 25 October 2025 Authors: Tej P. Shah, Richard Sidlow, Prem K. Sah Abstract Wolfram syndrome is a rare autosomal recessive disorder characterized by diabetes mellitus, optic atrophy, and progressive neurodegeneration, often summarized by the acronym DIDMOAD (diabetes insipidus, diabetes mellitus, optic atrophy, and deafness). We report a 27-year-old male with […]