Research Articles - Retinitis Pigmentosa
GenSight Biologics, a newly formed gene therapy development company in France, is making significant progress in the advancement of an optogenetic treatment for restoring vision in people who have lost all of their photoreceptors to retinal diseases such as retinitis pigmentosa (RP). The company’s goal is to launch a clinical trial in 2015.
After genetically screening an ethnically diverse group of 769 people with retinitis pigmentosa (RP), a Dutch research team found that three individuals’ disease was caused by defects in the gene MVK, which is also linked to a rare, sometimes severe, syndrome known as mevalonate kinase deficiency (MKD). However, these three people had only very mild MKD
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
A retinal prosthesis known to many as “the bionic retina” was implanted for the first time commercially in a patient in a hospital in Pisa, Italy, on October 29. Called the Argus II Retinal Prosthesis System, it was surgically implanted by Dr. Stanislao Rizzo, director of the University
- All 12 participants in the gene therapy clinical trial for Leber congenital amaurosis (LCA) at the Children’s Hospital of Philadelphia (CHOP) have been so delighted with the vision restoration from treatment to one eye, they have been anxiously awaiting the go-ahead to have their second eye treated. Thanks to results from a Foundation-funded lab study in large animals, that will likely happen soon.
Drs. Al Maguire, Katherine High, and Jean Bennett, lead investigators on the