As NAEVR Submits Senate Testimony Regarding FY2009 NIH/NEI Funding, Researcherss Report Initial Results of Human Gene Therapy Trials Cited As an Example of Nei’s Public/Private Collaborations

April 28, 2008
CONTACT: James F. Jorkasky
Executive Director
[email protected]


(Washington, D.C.) Today, the National Alliance for Eye and Vision Research (NAEVR) submitted written testimony to the Senate Labor, Health and Human Services, and Education (LHHS) Appropriations Subcommittee requesting Fiscal Year (FY) 2009 National Institutes of Health (NIH) and National Eye Institute (NEI) funding of $31 billion and $711 million, respectively, or a 6.6 percent increase to match biomedical inflation and begin restoring purchasing power lost in the past five funding cycles.

Concurrent with NAEVR’s submission, researchers funded by a public-private partnership between the NEI and the Foundation Fighting Blindness (FFB)—cited in the testimony as an example of the cost-effectiveness of NEI research—announced initial promising results of human gene therapy trials to reverse a form of childhood blindness called Leber congenital amaurosis (LCA), as published in the New England Journal of Medicine. LCA is a group of degenerative diseases of the retina, which is the light sensitive back of the eye responsible for vision. One type of LCA is caused by a mutation in the RPE65 gene, whose function is to process a type of vitamin A needed to keep light-sensing photoreceptor cells, the rods and cones of the retina, in operating order. In the trial, researchers delivered a normal RPE65 gene to the retina using a therapeutic virus known as adeno-associated vector, or AAV, to augment function of the defective gene. Even though this initial trial was a Phase I safety study, the first dose resulted in improved vision. The three individuals, ranging in age from 19-26 and who had one eye treated, all reported improved vision in dimly lit environments and in visual acuity in their injected eyes starting two weeks after treatment. The roving eye movement associated with severe vision loss from LCA—called nystagmus—was also reduced in all three individuals.

Researchers are enrolling six more individuals in a continuation of the study to evaluate safety and efficacy of differing doses. The vision improvement in young adults seen so far at the lowest dose gives researchers optimism that the treatment may provide near-normal vision to children in Phase II studies. The development of this gene therapy approach began in 1997 when a type of LCA was linked to the RPE65 gene. Three years later, researchers began restoring vision to dogs born blind from LCA (specifically the French Briard breed), including world-famous Lancelot, who has walked the halls of Congress. More than 55 dogs have been treated and continue to see well.

The published “LCA Study” trials, conducted at the Children’s Hospital of Philadelphia and Moorfields Eye Hospital in London, are in addition to an NEI-funded study taking place at the University of Pennsylvania and the University of Florida. All of these studies ultimately emerged from NEI’s research into the genetic basis of eye disease, in conjunction with the Human Genome Project. One-quarter of all genes identified to date are associated with eye disease/vision impairment.

NAEVR’s Senate testimony complements its House testimony, submitted on March 26, 2008, that also emphasized NEI’s trans-Institute collaborations within the NIH and with other Department of Health and Human Services (DHHS) agencies.

The National Alliance for Eye and Vision Research (NAEVR) is a non-profit advocacy coalition comprised of 55 professional, consumer, and industry organizations involved in eye and vision research. NAEVR’s goal is to achieve the best vision for all Americans through advocacy and public education for eye and vision research sponsored by the National Institutes of Health (NIH), the National Eye Institute (NEI) and other federal research entities. Visit NAEVR’s Web site at