Research Articles - Retinitis Pigmentosa
Two emerging gene-therapy development companies — Philadelphia-based Spark Therapeutics and Ireland-based Genable Technologies — have entered into a strategic partnership to accelerate the advancement of a gene therapy for people with autosomal dominant retinitis pigmentosa (adRP) caused by mutations in the gene RHO.
Continuing a partnership focused on inspiring and encouraging up-and-coming doctors to adopt careers in retinal-disease research and clinical care, the Foundation Fighting Blindness (FFB) and Howard Hughes Medical Institute (HHMI) have awarded two new annual medical research fellowships. One goes to Adrian Au, a third-year medical student at Case Western Reserve School of Medicine, the other to Andrew Zheng, who is in his third year at Columbia University College of Physicians and Surgeons.
For every person affected by an inherited retinal degeneration such as retinitis pigmentosa (RP), a mutated gene is at the heart of his or her vision loss. These mutations are like misspellings in a recipe, but even the smallest mistake can have devastating consequences. It can cause retinal cells to make a defective protein, or the wrong amount of one; subsequently, the cells die and vision is lost.
Held annually in May, the meeting of the Association for Research in Vision and Ophthalmology (ARVO) is one of the world’s largest gatherings of eye researchers. Leading retinal scientists and clinical investigators, including several members of the Foundation’s Scientific Advisory Board (SAB), attended this year’s event to present and discuss the latest research advancements for understanding retinal degenerative diseases and developing sight-saving treatments and cures.
Attracting more than 500 attendees from around the world, the Foundation’s VISIONS 2014 conference in Denver provided the ideal backdrop for recognizing three visionaries who have made extraordinary contributions to the fight against vision-robbing retinal degenerative diseases. Dr. David Birch was given the Foundation’s Board of Directors Award, and its Builder of Sight Award was presented to board members Bruce Sawyer and David Walsh.
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.