Tackling the Root Cause of Genetic Blindness
Positive results spur a pivotal phase III trial for choroideremia gene therapy
Two decades ago, Robert MacLaren began working on gene therapies. And the work is paying off, according to a recent publication describing vision improvement in patients who were given retinal gene therapy for choroideremia (1). Choroideremia is a rare (1 in 50,000–100,000) X-linked retinal degenerative disease. It manifests in childhood as an impairment of night vision, and is followed by peripheral vision loss, and then central vision loss later in life.
MacLaren led a 2011 clinical trial at the Oxford Eye Hospital, UK, which assessed subretinal injection of an adeno-associated viral vector that expresses Rab-escort protein 1 (REP1, the deficient protein in choroideremia). The paper in Nature Medicine notes that visual acuity improved in the 14 treated eyes over controls (median 4.5 letter gain, versus 1.5 letter loss, P = 0.04), with six treated eyes gaining more than one line of vision (>5 letters) – despite complications in two patients.
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