Research Articles - Retinitis Pigmentosa
A new gene linked to autosomal dominant retinitis pigmentosa (adRP) has been identified, thanks to a Foundation Fighting Blindness-funded genetic study that began with an Acadian family from Louisiana whose vision loss can be traced back to the early 1800s. Led by Stephen Daiger, Ph.D., at the University of Texas Health Science Center in Houston, an international research collaborative found that mutations in the gene HK1 cause
Just because a photoreceptor has stopped working due to the effects of a retinal degenerative disease doesn’t mean it’s forever lost. In fact, as the Foundation reported previously, José Sahel, M.D., a researcher at the Institut de la Vision in Paris, is developing a treatment to reactivate cones which have lost their light-sensing, antenna-like projections known as outer segments, but still retain their cell bodies, or inner segments.
At the Foundation’s meeting of Translational Research Acceleration Program (TRAP) investigators in Las Vegas earlier this week, Al Lewin, Ph.D., of the University of Florida, discussed progress in tackling the vexing problem of developing gene therapies for autosomal dominant retinal disease — specifically retinitis pigmentosa (RP) caused by mutations in the gene rhodopsin (RHO). His team’s project is funded through
A drug developed by the company QLT for the treatment of retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) caused by mutations in the genes RPE65 or LRAT restored visual acuity or visual field in 11 of 14 patients in a Phase 1B clinical trial. Vision improvements for a seven-day course of the drug were sustained for two years for some study participants. No serious adverse events
- Thanks to success in preclinical studies funded in part by the Foundation Fighting Blindness, the Irish biopharmaceutical company Genable Technologies has received a €5 million (equivalent to about $6.8 million) venture capital investment to advance its gene therapy for autosomal dominant retinitis pigmentosa (adRP) into a clinical trial.
A Foundation-funded investigative team led by Ruifang Sui, M.D., Ph.D., of Peking Union Medical College Hospital, has completed the first comprehensive genetic screening of a group of Chinese people with autosomal recessive retinitis pigmentosa (arRP). Results of the
The Argus II® Retinal Prosthesis System, which restores some useful vision to people blind from advanced retinitis pigmentosa, will be offered later this year at 12 clinical centers throughout the United States.
The development program for a new drug with the potential to treat a common form of autosomal dominant retinitis pigmentosa (adRP) has received a boost with Shire’s acquisition of BIKAM Pharmaceuticals, the original developer of the experimental treatment.
The Foundation Fighting Blindness Clinical Research Institute (FFB CRI) has completed patient enrollment for its Phase II clinical trial for valproic acid, a therapy which has shown some suggestion of slowing loss of visual function in people with autosomal dominant retinitis pigmentosa (adRP). Valproic acid was previously approved by the U.S. Food and Drug Administration (FDA) for the treatment of seizure disorders. The 90-participant study of valproic acid for people with confirmed adRP was