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 predominantly by bi-allelic mutations in the WFS1 gene and exceptionally in the WFS2-gene. There is very limited published data on gonadal function in young people with WS. Expansion of the phenotype has previously included suggestions of abnormalities in puberty in adolescents with (WS) but with little detail.
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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 of Endocrinology (ESE) in Copenhagen, Denmark and are available on the “Presentations” page of the Amylyx website.

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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, improving patient outcomes.
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β cell dedifferentiation, the underlying mechanism of diabetes in Wolfram syndrome

Publication: science.org | Publication Date: 2025

Authors: Kikuko Amo-Shiinoki et al.

Abstract

Insulin-dependent diabetes in patients with Wolfram syndrome (WS; OMIM 222300) has been linked to endoplasmic reticulum (ER) stress caused by WFS1 gene mutations. However, the pathological process of ER stress–associated β cell failure remains to be fully elucidated. Our results indicate loss of β cell lineage and subsequent dedifferentiation as the mechanisms underlying functional and mass deficits in WS.
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6th Annual Golf Shootout, Sept 8, 2025

Golf Shootout 2025

Join us for a great event on September 8, 2025 at Bogey Hills Country Club to support The Snow Foundation. The day will feature, 10 Par 3 holes with unique hole in on contests, 4 Par 4’s and 4 Par 5 Long Drive holes, a $100,000 Shootout for 10 Golfers.

Download the flyer for registration and sponsorship opportunities.

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10th International Congress of Clinicians and Researchers, June 13 & 14th 2025, Paris, France

June 13 & 14th 2025, Paris, France

The 10th International Congress of Clinicians and Researchers aims to evaluate current research efforts, present the results of the TreatWolfram clinical trial, and assess medical care.

Click here for event details.

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Is Diabetes Considered an Endocrine Disorder?

Diabetes is an endocrine disorder that affects the way your pancreas produces insulin and later glucose distribution. Diabetes is a chronic condition involving issues regulating blood sugar (glucose). When glucose levels are too high, you may be at risk of developing problems with your kidneys, heart, and other parts of your body.

https://www.healthline.com/health/is-diabetes-an-endocrine-disorder

Cherney, Kristeen. (2024, October 3). Is Diabetes Considered an Endocrine Disorder? Healthline.

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Gene therapy offers hope for patients with rare vision loss

A groundbreaking gene therapy treatment has shown remarkable success in improving vision for patients with Leber congenital amaurosis (LCA1), a rare inherited condition that causes severe vision loss. The therapy, which targets a specific genetic mutation, has resulted in significant improvements in vision for some patients.

https://www.vanguardngr.com/2024/09/gene-therapy-offers-hope-for-patients-with-rare-vision-loss/

Ogundipe, Sola. (2024, September 29). Gene therapy offers hope for patients with rare vision loss. Vanguard.

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Diabetes Quality Measures Have Challenges But Also Successes

Quality measures are a tool to drive healthcare toward value-based care, and in diabetes care these measures can improve diabetes management and prevent downstream conditions, such as cardiovascular disease. However, there are multiple hurdles that healthcare organizations face when implementing quality measures for diabetes care, explained Sean M. Oser, M.D., M.P.H., associate professor in the Department of Family Medicine at the University of Colorado School of Medicine, in a Managed Healthcare Executive K-Cast video series.

https://www.managedhealthcareexecutive.com/view/diabetes-quality-measures-have-challenges-but-also-successes

MHE Staff (2024, October 3). Diabetes Quality Measures Have Challenges But Also Successes. Managed Healthcare Executive.

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