UBC–VCH uses drug to repair rare birth defect

Issue: BCMJ, vol. 56, No. 1, January February 2014, Pages 41-42 News

University of British Columbia and Vancouver Coastal Health scientists have developed a drug that appears to restore normal vision in mice afflicted with aniridia, a condition that severely limits the vision of about 5000 people in North America. The development of this potential cure for a rare eye disease shows for the first time that a drug can repair a birth defect.

Scientists formulated the drug PTC124 (Ataluren) into eye drops and found that it consistently restored normal vision in mice who had aniridia. A small clinical trial with children and teens is expected to begin next year in Vancouver, the US, and the UK.

Aniridia patients don’t have an iris and suffer many other eye abnormalities. PTC124 is believed to have the power to override the extra stop sign, thus allowing the protein to be made. The scientists initially thought the drug would work only in utero; however, when they gave the eye drops to 2-week-old mice with aniridia they found that it reversed the damage they had been born with.

. UBC–VCH uses drug to repair rare birth defect. BCMJ, Vol. 56, No. 1, January, February, 2014, Page(s) 41-42 - News.

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