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Collaboration for rare diabetes: understanding new treatment options for Wolfram syndrome

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Abstract

Background

Wolfram Syndrome is a very rare genetic disease causing diabetes mellitus, blindness, deafness, diabetes insipidus, and progressive brainstem degeneration. Neurologic symptoms of affected patients include ataxia, sleep apnea, loss of bladder control, dysphagia, loss of taste, and accompanying psychiatric symptoms as a sign of progressive neurodegeneration. Its genetic cause is mainly biallelic mutations of the Wolframin endoplasmatic reticulum transmembrane glycoprotein gene Wfs1. These result in increased ER stress, which in turn induces apoptosis and leads to the depletion of the corresponding cells and a loss of their physiological functions. Though diabetes mellitus is mostly treated by insulin, there is still no proven cure for the disease in general. It leads to premature death in affected individuals—usually within the 4th decade of live.

Current research and treatment trials

Clinical studies are currently being conducted at various locations worldwide to test a therapy for the disease using various approaches.

Potentail of virtual netowrking

As rare diseases in general represent a major challenge for individual clinicians and researchers due to the rarity of diagnosis, the lack of evidence and of value of existing research, international cooperation, coordination and networking leading to an alignment of different stakeholders is necessary to support patients and increase knowledge about these diseases, like wolfram syndrome.

Conclusion

ENDO-ERN and EURRECA are two EU-funded networks that aim to promote knowledge sharing, education and research on rare endocrine diseases.

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Acknowledgements

The authors would also like to thank the European Society of Endocrinology, the International Society for Pediatric and Adolescent Diabetes and the European Society for Pediatric Endocrinology for their generous support.

Funding

This paper is based on work performed with the support of non-profit organizations and public bodies for funding of scientific research conducted within the European Union: Innovative Medicines Initiative Joint Undertaking under grant agreement 115797 (INNODIA), which include financial contributions from European Union’s Seventh Framework Programme (FP7/2007-2013) and Horizon 2020 research and innovation programme, EFPIA, JDRF, the Leona M. and Harry B. Helmsley Charitable Trust, the C4C initiative receiving funding from from the Innovative Medicines Initiative 2 Joint Undertaking under grant agreement No 777389 supported by the European Union’s Horizon 2020 research and innovation programme and EFPIA, and the project ‘777215/ EuRRECa’ which has funding from the European Union’s Health Programme (2014–2020). SWEET is a registered non-profit charity in Hannover, Germany. It is financed through membership fees of the participating centers (based on income of country of residence according to the World Bank) and corporate members (for the current list see www.sweet-project.org).

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Authors and Affiliations

  1. Diabetes Center, Children’s Hospital AUF DER BULT, Hannover, Germany

    Felix Reschke, Nicolin Datz, Katharina Klee & Thomas Danne

  2. Centre of Reproductive Medicine and Andrology, Department of Clinical and Surgical Andrology, University of Münster, Muenster, Germany

    Julia Rohayem

  3. Department of Medicine (DIMED), Padua University Hospital, Padua, Italy

    Pietro Maffei & Francesca Dassie

  4. Institute of Epidemiology and Medical Biometry, ZIBMT, Ulm University, Ulm, Germany

    Anke Schwandt

  5. German Center for Diabetes Research (DZD), Munich-Neuherberg, Germany

    Anke Schwandt

  6. Pediatric Clinic, DECCP/Center Hospitalier de Luxembourg, Luxembourg, Grand-Duché de Luxembourg

    Carine de Beaufort

  7. Ospedale Pediatrico Meyer Firenze, Florence, Italy

    Sonia Toni

  8. Department of Paediatrics, Medical University of Warsawa, Warsaw, Poland

    Agnieszka Szypowska

  9. Hospital Sant Joan de Déu, Barcelona, Spain

    Roque Cardona-Hernandez

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Reschke, F., Rohayem, J., Maffei, P. et al. Collaboration for rare diabetes: understanding new treatment options for Wolfram syndrome. Endocrine 71, 626–633 (2021). https://doi.org/10.1007/s12020-021-02622-3

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