Retina gene therapy for X-linked chorioderemia

Cremers, Frans

In the online ahead of print issue of the prestigious journal the Lancet (16 January 2014 doi:10.1016/S0140-6736(13)62117-0) researchers of Oxford (Robert MacLaren), London (Miguel Seabra) and Nijmegen (Frans Cremers) report on the results of a phase 1/2 gene therapy trial in 6 persons with choroideremia, an X-linked retinal dystrophy.

X-linked choroideremia occurs in males and is characterized by night blindness followed by progressive retinal degeneration (tunnel vision) and legal blindness by the 5th decade. In 1990, the X-linked gene was cloned by Frans Cremers in the Department of Human Genetics of the Radboud University Medical Center, which enabled genetic testing in affected males. Miguel Seabra identified the function of the protein and developed a mouse model which was successfully used to perform gene therapy using recombinant adeno-associated virus. In the last few years Robert MacLaren in Oxford performed the first clinical trials in 6 affected males aged 35-63 with different stages of disease. The treatment caused no harm and resulted in improvements in subjective measurements of vision. Results show the potential for gene therapy, not just in the treatment of choroideremia, but also for other inherited retinal degenerations. Robert MacLaren will be one of 3 speakers in a 'Novel Therapies for Inherited Retinal Dystrophies' symposium at the Radboudumc in Nijmegen on 25 March.

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