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Ophthalmology and the CTSA Program

From Shadows to Clarity: Gene Therapy Enables Child to See

Imagine living each day in shadow, prevented from recognizing the people and places around you. That was the life of a fourth-grader from Belgium who had a type of hereditary blindness that only allowed him to see light and dim shapes. Now, the boy recognizes faces, reads books and rides a bike—all because he participated in a study supported in part by NIH’s CTSA program.

In this multi-funded study at The Children’s Hospital of Philadelphia (CHOP), a team of researchers discovered that a new gene therapy may safely restore sight to people with Leber’s congenital amaurosis. Due to a genetic mutation, these individuals are born with severely impaired vision because they lack a particular protein necessary to see clearly. In this small study at the CTSA-supported CHOP Center for Cellular and Molecular Therapeutics, patients received functional copies of the mutated gene. The treatment appeared to improve vision, especially for the youngest patients. In a follow-up study with some of the same patients, the team found that they had maintained their vision and were tolerating the new gene well. Researchers are hopeful that these studies will lay the foundation for new gene therapy approaches to other forms of this genetic disease.

1 Maguire, A.M., High, K.A., Auricchio, A., et al. Age-dependent effects of RPE65 gene therapy for Leber’s congenital amaurosis: a phase 1 dose-escalation trial. Lancet, 2009;374(9701):1597-1605.

Other NIH Resources to Benefit Translational Vision Research

The Clinical and Translational Science Award (CTSA) program was launched in 2006 and has expanded to about 60 academic medical institutions across the country. CTSA institutions work to accelerate the translation of laboratory discoveries into treatments for patients, to engage communities in clinical research efforts, and to train a new generation of clinical and translational researchers. CTSAs provide facilitate clinical and translational work by providing specialized infrastructure support, engaging community partners, and training the next generation of clinician scientists.

NEI investigators are encouraged to leverage resources available through their local CTSA institution. Over 240 publications supported by the NEI reported receiving additional support from their local CTSA.

Example: CTSA Pilot Funding. In 2012,the Harvard Clinical and Translational Science Center funded Advanced Imaging Pilot Research Grants in two areas of ophthalmology: spectral domain OCT imaging of the optic nerve head and early detection of corneal ectasia.

Example: CTSA Training. All CTSA institutions have a KL2 program, which offers formal research training experience to scholars who already have an M.D., Ph.D., or equivalent doctoral degree. Many CTSA institutions also include programs that provide predoctoral trainees with an introduction to clinical and translational research through the TL1 program.

The Therapeutics for Rare and Neglected Diseases (TRND) program encourages and speeds the development of new drugs for rare and neglected diseases by supporting collaborations among NIH and academic scientists, nonprofit organizations, and pharmaceutical and biotechnology companies. For example, TRND is currently funding research programs to develop a small molecule pharmacological chaperone and to use retinal progenitor cells for the treatment of Retinitis Pigmentosa.

The Blueprint Neurotherapeutics Network (link:) is helping small labs develop new drugs for nervous system disorders. The Network provides research funding, plus access to millions of dollars worth of services and expertise to assist in every step of the drug development process, from laboratory studies to preparation for clinical trials. Project teams across the U.S. have received funding to pursue drugs for conditions from vision loss to neurodegenerative disease to depression. The program is currently funding the development of small molecule drugs for treating dry AMD and the targeting of cytokine-mediated pathologies for neuroprotection in the treatment of AMD.

Translational Research at other NIH Institutes and Centers

Last Reviewed: 
December 2013