Research Articles - Retinitis Pigmentosa
GenSight Biologics, a Paris-based developer of gene therapies for ocular diseases, is receiving $41.3 million in Series A venture capital funding for the development of two ocular gene therapies. One is an optogenetic treatment for retinitis pigmentosa (RP), a disease that causes blindness from retinal degeneration. The other is a gene-correction therapy for Leber hereditary optic neuropathy (LHON), a condition that causes central vision loss from degeneration of the optic nerve.
One of the biggest challenges in moving a potential treatment for an inherited retinal degeneration through a clinical trial is determining in a relatively short amount of time, perhaps a year or two, if it works to preserve vision. That’s because diseases like retinitis pigmentosa (RP) often progress slowly enough that it can take several years for measurable changes in vision to occur.
A four-year, $1-million-dollar grant from the Food and Drug Administration
- 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 has updated its information on the combined treatment regimen of vitamin A palmitate, oily fish (DHA) and lutein, which can slow vision loss in people with retinitis pigmentosa (RP) and Usher syndrome types 2 and 3. The new information replaces the Vitamin A Packet previously provided by the Foundation.
The treatment regimen is based on three peer-reviewed, Foundation-funded clinical studies conducted by Dr. Eliot Berson and his colleagues at the
- A research team led by investigators from University College London (UCL) has found that a defect in the gene OFD1 causes X-Linked retinitis pigmentosa (XLRP), a retinal disease characterized by progressive and severe vision loss. OFD1 is the third gene to be linked to XLRP; the other two genes are RPGR and RP2. The latest finding will help researchers diagnose more people affected by XLRP and also identify potential targets for treatments. UCL’s discovery was recently reported in the journal
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