A video that shows a 13-year-old child kicking a soccer ball would be a fairly typical scene were it not for the fact that for much of his life he was profoundly blind. He is one of 12 patients that have received a gene therapy developed by Childrens Hospital of Philadelphias Center for Cellular and Molecular Therapeutics to reverse the effects of inherited retinal degeneration from mutations associated with the RPE65 gene. <\/p>\n
Spark Therapeutics is a CHOP spinout thats advancing the gene therapy and other treatments through Phase 3 clinical trial and FDA submission. <\/p>\n
The treatment is designed to address an unmet need for patients with inherited Lebers congenital amaurosis and retinitis pigmentosa. In an interview with MedCity News at the JP Morgan Healthcare conference, CEO Jeff Marrazzo likened the effects of retinal dystrophy to film that degrades in a camera that produces a blurry or distorted image. <\/p>\n
Spark Therapeutics has enrolled 24 patients in a Phase 3 trial, including 16 in the treatment arm and eight in the control group. The open-label, randomized controlled trial will assess the safety and effectiveness of its therapy approach as a possible treatment for blindness caused by mutations of the RPE65 gene. Participants receive a subretinal injection and are monitored for any improvements to orientation, mobility and navigational ability, as well as performance on tests of visual and retinal function, according to the companys website. At the end of one year, subjects randomized to the non-intervention control group will cross over to receive vector injection. The Phase 3 trial means they can also treat patients as young as age 3, compared with earlier studies which have an age minimum of 8. <\/p>\n
Marrazzo said Spark expects to have final data from the clinical trial available in the first half of 2015. <\/p>\n
We are in the midst of a remarkable chapter in medicine right now, he said. <\/p>\n
If successful, the company could have the first FDA-approved gene therapy and could contribute to Philadelphias profile as a life science center. <\/p>\n
Separately, the company has a disruptive Hemophilia B gene therapy treatment and is currently enrolling patients in a Phase 1\/2 study. Although the dosing schedule has not yet been defined, a patient in the current study has been able to go six months so far without receiving any infusions of traditional therapy. <\/p>\n
The treatment delivers a disarmed adeno-associated virus carrying a healthy gene to the liver, where factor IX is normally produced. Marrazzo sees the treatment as having the potential to have a huge impact in reducing the doses of clotting factor that hemophiliacs need to take to avoid excessive bleeding. There are about 20,000 people with the condition in the U.S., according to the Centers for Disease Control. <\/p>\n
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Spark\u2019s gene therapy to reverse blindness hopes to be first commercialized therapy of its kind<\/a><\/p>\n","protected":false},"excerpt":{"rendered":" A video that shows a 13-year-old child kicking a soccer ball would be a fairly typical scene were it not for the fact that for much of his life he was profoundly blind. Continue reading