Research Articles - Retinitis Pigmentosa
- Investigators reported that treated retinas were thicker, and therefore likely healthier, than those untreated, and the amount of thickening was dose dependent; the higher dose treatment appeared to result in greater thickening. Increased retinal thickening had not translated into better visual acuities or broader visual fields at the 12-month points in the studies.
One trial is an18-month investigation for people with late-stage retinal degeneration. The other study, which enrolled people with early-stage retinal
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
Foundation-funded researchers have created a mouse model of X-linked retinitis pigmentosa (XLRP) caused by defects in the gene RP2 — an advancement that gives them a platform for learning more about the disease and developing potential therapies for future human studies. Results of the research were published in the journal Investigative Ophthalmology & Visual Science (IOVS).
An international research team funded by the Foundation used a cutting-edge technique called whole genome sequencing (WGS) to identify defects in the gene NEK2 as a cause of autosomal recessive retinitis pigmentosa (arRP). The investigators conducted follow-up studies of NEK2 in zebrafish to better understand how mutations in the gene lead to vision loss. Ultimately, discovery of the gene’s link to arRP enables researchers to
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