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Consensus Recommendations for the Clinical Management of Wolfram syndrome Using a Delphi Method
Josephine Elliott1, Saumel Ahmadi2, Patrick Yu-Wai-Man3,4,5,6
1Department of Cancer and Genomic Sciences, University of Birmingham, United Kingdom.
Medrxiv : the Preprint Server for Health Sciences
|July 10, 2026
Summary
These are the first international clinical guidelines for Wolfram syndrome, a rare neurodegenerative disorder. The consensus statements offer actionable recommendations for diagnosis, care, and treatment across multiple specialties.
Area of Science:
- Neuroscience
- Genetics
- Endocrinology
Background:
- Wolfram syndrome is a rare, inherited neurodegenerative disorder, primarily caused by WFS1 gene mutations.
- Characterized by diabetes mellitus, optic atrophy, hearing loss, and neurological deficits.
- No approved disease-modifying treatments or established international clinical guidelines existed previously.
Purpose of the Study:
- To establish the first international clinical consensus guidelines for Wolfram syndrome.
- To provide actionable recommendations for the diagnosis, management, and multidisciplinary care of Wolfram syndrome patients.
Main Methods:
- Systematic review of 273 publications by an international steering committee.
- Modified three-round Delphi process involving international specialists across multiple disciplines.
- Incorporated feedback from nurses, patient advocacy groups, and genetic diagnostic specialists.
Main Results:
- 35 consensus statements achieved ≥80% agreement across key clinical domains.
- Guidelines cover diagnosis, genetic testing, multidisciplinary care, and management of specific symptoms.
- Recommendations span neuro-ophthalmology, neurology, endocrinology, urology, gastroenterology, and psychiatry.
Conclusions:
- These guidelines represent the first international clinical consensus for Wolfram syndrome.
- Provide actionable recommendations for clinicians globally.
- Implementation should include prospective audits to refine future guidelines.
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