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Advances in gene therapy for Wolfram syndrome
Author(s) -
Hamel C.,
Jagodzinska J.,
BonnerWersinger D.,
Koks S.,
Seveno M.,
Delettre C.
Publication year - 2017
Publication title -
acta ophthalmologica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.534
H-Index - 87
eISSN - 1755-3768
pISSN - 1755-375X
DOI - 10.1111/j.1755-3768.2017.03174
Subject(s) - wolfram syndrome , optic neuropathy , atrophy , genetic enhancement , medicine , optic nerve , visual acuity , disease , diabetes mellitus , pallor , ophthalmology , pediatrics , pathology , gene , endocrinology , biology , genetics
Summary The Wolfram Syndrome ( WS ) is an early onset genetic disease (1/200 000) featuring diabetes mellitus and progressive optic neuropathy ensuing mutations in the WFS 1 gene. To date, there is no treatment to stop the progression of the disease. We have characterized the visual impairment of 2 mutants animal models for WFS 1 (Wfs1 exon8‐/‐ and Wfs1 E864K ) and shown that these 2 models developed an optic atrophy. We started for 1 year intravitreous micro injections of therapeutic vector AAV 2‐ CMV ‐ WFS 1 on 1 month‐old Wfs1 exon8‐/‐. Our results showed that mice injected exhibited a stabilization of their visual acuity at 3 and 6 months post‐injection, and a decrease of optic disc pallor and optic nerve damage. These promising results demonstrate the validity of the pre‐clinical approach to treat Wolfram Syndrome by gene therapy and encourage further studies under a treatment for the Wolfram Syndrome patients.