Research Articles - Retinitis Pigmentosa
A drug designed to save and restore vision in people with retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) caused by defects in the RPE65 or LRAT genes continues to show positive preliminary results in a Phase Ib clinical trial taking place in several locations worldwide. The study, which began in 2010 and was made possible by earlier studies funded by the Foundation, is evaluating both safety and effectiveness of the oral treatment.
- The Foundation Fighting Blindness is adding four new sites to its Phase II clinical trial of valproic acid for the treatment of autosomal dominant retinitis pigmentosa (adRP). The goal of the expansion is to accelerate and increase patient enrollment.
“By adding more clinical trial sites, we can speed up and expand our
A Foundation-funded research team, led by the University of Iowa, has identified a defect in the gene MAK as a prevalent cause of autosomal recessive retinitis pigmentosa (arRP) in people of Ashkenazi (Eastern European) Jewish descent.
Researchers at the University of Iowa’s Carver Lab used whole-exome sequencing — a screening approach that targets the genetic regions where disease-causing defects are most likely to occur — to identify a MAK defect
Applied Genetic Technologies Corporation (AGTC), a leading developer of gene therapies, has received $37.5 million in Series B (second round) venture capital funding to advance potential gene therapies for the retinal degenerative diseases achromatopsia and X-linked retinoschisis (XLRS) toward human studies. The investment will also enable AGTC to continue its Phase II clinical trial for alpha-1 antitrypsin deficiency, a condition which causes serious lung and liver dysfunction.
The Foundation Fighting Blindness is currently funding translational research
A French research team led by Fabienne Rolling, Ph.D., of INSERM, has used gene therapy to restore vision in a canine model of cone-rod dystrophy caused by mutations in the gene RPGRIP1. Reported in the journal Molecular Therapy, the advancement marks the first time RPGRIP1 gene therapy has been used successfully in a large-animal model of cone-rod dystrophy.
Oregon Health & Science University (OHSU) is launching a three-year natural history study for people with X-linked retinoschisis (XLRS). Funded by the Foundation Fighting Blindness and Applied Genetic Technologies Corporation (AGTC), the investigation’s primary goal is to identify outcome measures — such as changes in vision or retinal structure — that could be useful in evaluating the effectiveness of
A highly potent synthetic form of THC, the substance in marijuana that produces a high for users, has shown strong vision-preserving effects in rats with a form of autosomal dominant retinitis pigmentosa (adRP). Rats with adRP that were injected with the synthetic THC known as HU210 had 40 percent more rows of photoreceptors and 70 percent greater retinal sensitivity than untreated rats. The treatment also protected the connections between photoreceptors and other
- ReNeuron, a stem cell development company in the United Kingdom, is planning to file for regulatory approval in late 2013 to launch a clinical trial of a stem cell treatment for people with retinitis pigmentosa. The company announced its plans on June 15, 2012, at the 10th Annual Meeting of the International Society for Stem Cell Research (ISSCR) in Yokohama, Japan.
A grandmother of 10 who was diagnosed with retinitis pigmentosa (RP) 25 years ago is one of the first two people to receive an implant of the Argus® II Retinal Prosthesis System since it became commercially available in the United States. She is hopeful that the device, when activated after she recovers from surgery and receives training, will enable her to travel more and see the movement and activity of her grandchildren.
- A team led by Dr. Stephen Daiger, a researcher from the University of Texas Health Science Center in Houston, used genetic testing to determine that 8.5 percent of people thought to have autosomal dominant retinitis pigmentosa (adRP) actually have X-linked RP (XLRP). The investigators tested individuals from a group of 258 families initially diagnosed with adRP. Results of the Foundation-funded study were