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About 350 results

ALLMedicine™ Wolfram Syndrome Center

Research & Reviews  138 results

Neuro-ophthalmological manifestations of Wolfram syndrome: Case series and review of th...
https://doi.org/10.1016/j.jns.2022.120267
Journal of the Neurological Sciences; Kabanovski A, Donaldson L et. al.

Apr 27th, 2022 - Wolfram Syndrome (WS) is a rare progressive hereditary neurodegenerative disease with hallmark features of diabetes mellitus, optic atrophy, and hearing loss. Its other clinical manifestations may include diabetes insipidus, urological, neurologic...

Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome.
https://doi.org/10.1080/13816810.2022.2068038
Ophthalmic Genetics; Mair H, Fowler N et. al.

Apr 23rd, 2022 - In contrast to the classic autosomal recessive Wolfram syndrome, Wolfram-like syndrome (WLS) is an autosomal dominant disease caused by heterozygous variants in the WFS1 gene. Here, we present deep phenotyping of a mother and son with a WFS1 varia...

Wolfram Syndrome 1: From Genetics to Therapy.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8949990
International Journal of Environmental Research and Publi... Rigoli L, Caruso V et. al.

Mar 26th, 2022 - Wolfram syndrome 1 (WS1) is a rare neurodegenerative disease transmitted in an autosomal recessive mode. It is characterized by diabetes insipidus (DI), diabetes mellitus (DM), optic atrophy (OA), and sensorineural hearing loss (D) (DIDMOAD). The ...

Morphological, behavioral and cellular analyses revealed different phenotypes in Wolfra...
https://doi.org/10.1093/hmg/ddac065
Human Molecular Genetics; Crouzier L, Richard EM et. al.

Mar 25th, 2022 - Wolfram syndrome is a rare genetic disease characterized by diabetes, optic atrophy and deafness. Patients die at 35 years old, mainly from respiratory failure or dysphagia. Unfortunately, there is no treatment to block the progression of symptoms...

Metabolic Treatment of Wolfram Syndrome.
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8910219
International Journal of Environmental Research and Publi... Iafusco D, Zanfardino A et. al.

Mar 11th, 2022 - Wolfram Syndrome (WS) is a very rare genetic disorder characterized by several symptoms that occur from childhood to adulthood. Usually, the first clinical sign is non-autoimmune diabetes even if other clinical features (optic subatrophy, neurosen...

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Clinicaltrials.gov  2 results

Efficacy Study of Daily Administration of VPA in Patients Affected by Wolfram Syndrome
https://clinicaltrials.gov/ct2/show/NCT04940572

Dec 9th, 2021 - Open label, phase II study non randomized single group assignment of 20 evaluable patients 13 years and older, over 37,5 kg body-weight, with sensorineural hearing loss of at least 20 dB at 8 kHz in high frequency average (HFA), AND with documente...

Tracking Neurodegeneration in Early Wolfram Syndrome
https://clinicaltrials.gov/ct2/show/NCT02455414

Jul 11th, 2018 - Specific Aims: Wolfram syndrome (WFS) is a rare (1 in ~770,000) autosomal recessive genetic disease characterized by early childhood onset insulin dependent diabetes, optic nerve atrophy, vision and hearing loss, diabetes insipidus and neurodegene...

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