Consensus Recommendations for the Clinical Management of Wolfram syndrome Using a Delphi Method
medRxiv [Preprint]. 2026 Jul 2:2026.07.02.26357130. doi: 10.64898/2026.07.02.26357130. ABSTRACT BACKGROUND: Wolfram syndrome is a rare neurodegenerative disorder, most commonly caused by pathogenic variants in WFS1 , while cases due to CISD2 are exceedingly rare. The estimated prevalence is 1 in 160,000 to 770,000 individuals worldwide. In these clinical guidelines, disorders caused by WFS1 are referred to […]
Revision of diagnosis in a child with type 1 diabetes mellitus due to appropriate genetic testing – Wolfram Syndrome
BMJ Case Rep. 2026 Jul 2;19(7):e267549. doi: 10.1136/bcr-2025-267549. ABSTRACT We present a middle childhood boy with type 1b diabetes mellitus (defined as insulin-dependent diabetes mellitus without evidence of autoimmunity) diagnosed at the age of 4 years who was on a basal bolus insulin regimen. Identifying the presence of bilateral optic atrophy in him during an […]
Reversible Mitochondrial Iron Toxicity in Wolfram Syndrome Type 2 Monogenic Diabetes
J Clin Endocrinol Metab. 2026 Jun 24:dgag250. doi: 10.1210/clinem/dgag250. Online ahead of print. ABSTRACT CONTEXT: Wolfram syndrome type 2 (WS2) is a rare monogenic diabetes syndrome caused by CISD2 mutations. Its cellular pathophysiology remains poorly understood, and no targeted therapies exist. OBJECTIVE: To characterize the clinical phenotype and cellular pathophysiology of the largest WS2 cohort […]
Wolfram syndrome and diabetes mellitus in Aotearoa, New Zealand: Phenotype and response to GLP-1 receptor agonist therapy
Diabet Med. 2026 Jun 21:e70405. doi: 10.1111/dme.70405. Online ahead of print. ABSTRACT AIM: To describe the clinical characteristics of patients with Wolfram syndrome (WFS) and diabetes mellitus (DM) in Aotearoa, New Zealand. Review of response to therapy in those treated with glucagon-like peptide-1 receptor agonists (GLP1RA). METHODS: This retrospective cohort study describes 7 patients with […]
Targeting WFS1 overcomes KRASG12D dependency and adaptive resistance to KRAS inhibition in pancreatic cancer
NPJ Precis Oncol. 2026 Jun 15. doi: 10.1038/s41698-026-01553-4. Online ahead of print. ABSTRACT KRASG12D-driven pancreatic ductal adenocarcinoma (PDAC) remains a therapeutic challenge characterized by limited treatment options. While MRTX1133, a potent and selective KRASG12D inhibitor, is currently under clinical evaluation, the emergence of acquired resistance restricts its long-term therapeutic efficacy. In this study, we identified […]
Synaptic alterations are preceding the axonal loss in optic atrophy of Wolfram syndrome mouse model
Front Neurosci. 2026 May 22;20:1838257. doi: 10.3389/fnins.2026.1838257. eCollection 2026. ABSTRACT BACKGROUND: Wolfram syndrome is a rare autosomal recessive disorder characterized by antibody-negative early-onset diabetes mellitus, optic atrophy, sensorineural hearing loss, arginine-vasopressin deficiency, and progressive neurodegeneration of the brainstem and cerebellum. It is caused primarily by pathogenic variants in the WFS1 gene, which encodes a transmembrane […]
Molecular Characterization of Syndromic Hearing Loss in North African Moroccan Families
Biomolecules. 2026 Apr 22;16(5):619. doi: 10.3390/biom16050619. ABSTRACT Hearing loss (HL) is a common sensory disorder, with syndromic forms accounting for ~30% of genetic cases. Due to phenotypic and genetic heterogeneity, accurate diagnosis remains challenging. Exome sequencing (ES) offers a powerful tool to uncover the underlying genetic causes. This study aimed to investigate the genetic basis […]
Phase II trial of sodium phenylbutyrate and taurursodiol in Wolfram syndrome
J Clin Invest. 2026 May 15;136(10):e198519. doi: 10.1172/JCI198519. eCollection 2026 May 15. ABSTRACT PB&TURSO was associated with improved or stabilized pancreatic function, vision, and overall symptom burden in individuals with Wolfram syndrome, a rare and progressive degenerative disease. PMID:42138079 | DOI:10.1172/JCI198519
Expanding the phenotype of Wolfram syndrome: adult presentation with a novel WFS1 variant
JCEM Case Rep. 2026 May 5;4(6):luag066. doi: 10.1210/jcemcr/luag066. eCollection 2026 Jun. ABSTRACT Wolfram syndrome type 1 (WS1) is a rare autosomal recessive disorder involving diabetes mellitus, optic atrophy, and neurodegeneration, caused by biallelic WFS1 mutations. Though typically diagnosed in childhood, adult-onset cases may be missed due to variable symptom onset. We describe a 38-year-old woman […]
WFS1-related isolated diabetes induced by a WFS1 missense mutation: focus on the isolated diabetes phenotype
Orphanet J Rare Dis. 2026 Mar 27;21(1):180. doi: 10.1186/s13023-026-04291-9. ABSTRACT BACKGROUND: Wolfram syndrome is a rare disease caused by the mutation of WFS1 gene, characterized as s spectrum of disorders. We aim to investigate the clinical features and pathogenic mechanisms of a WFS1 missense mutation inducing atypical phenotype characterized solely by isolated diabetes mellitus (DM). […]