1. Safety and Efficacy of Gene Transfer for Leber's Congenital Amaurosis
- Author
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Arkady Lyubarsky, Jean Bennett, Xiaosong Zhu, Maureen G. Maguire, Eric A. Pierce, Enrico Maria Surace, Kathleen A. Marshall, Barbara A. Konkle, Sandro Banfi, L. F. Dell'Osso, Jeannette L. Bennicelli, Jonathan B. Jacobs, Edwin M. Stone, J. Fraser Wright, Richard W. Hertle, Kenneth S. Shindler, Edward N. Pugh, Nicholas J. Volpe, Jennifer Wellman McDonnell, Katherine A. High, Junwei Sun, Valder R. Arruda, Francesco Testa, Albert M. Maguire, Jian Xing Ma, Alberto Auricchio, Federico Mingozzi, Bernd Hauck, Olga Zelenaia, T. Michael Redmond, Francesca Simonelli, Settimio Rossi, Maguire, Am, Simonelli, Francesca, Pierce, Ea, Pugh EN, Jr, Mingozzi, F, Bennicelli, J, Banfi, Sandro, Marshall, Ka, Testa, Francesco, Surace, Em, Rossi, Settimio, Lyubarsky, A, Arruda, Vr, Konkle, B, Stone, E, Sun, J, Jacobs, J, Dell'Osso, L, Hertle, R, Ma, Jx, Redmond, Tm, Zhu, X, Hauck, B, Zelenaia, O, Shindler, K, Maguire, Mg, Wright, Jf, Volpe, Nj, Mcdonnell, Jw, Auricchio, A, High, Ka, Bennett, J., Simonelli, F, Banfi, S, Testa, F, Surace, Enrico Maria, Rossi, S, and Auricchio, Alberto
- Subjects
Retinal degeneration ,medicine.medical_specialty ,Visual acuity ,Gene therapy of the human retina ,genetic structures ,business.industry ,Genetic enhancement ,Genetic transfer ,General Medicine ,medicine.disease ,Article ,eye diseases ,Choroideremia ,Surgery ,RPE65 ,Ophthalmology ,medicine ,Leber's congenital amaurosis ,sense organs ,medicine.symptom ,business - Abstract
S um m a r y Leber's congenital amaurosis (LCA) is a group of inherited blinding diseases with onset during childhood. One form of the disease, LCA2, is caused by mutations in the retinal pigment epithelium-specific 65-kDa protein gene (RPE65). We investiga t ed the safety of subretinal delivery of a recombinant adeno-associated virus (AAV) carry- ing RPE65 complementary DNA (cDNA) (ClinicalTrials.gov number, NCT00516477). Three patients with LCA2 had an acceptable local and systemic adverse-event pro- file after delivery of AAV2.hRPE65v2. Each patient had a modest improvement in measures of retinal function on subjective tests of visual acuity. In one patient, an asymptomatic macular hole developed, and although the occurrence was considered to be an adverse event, the patient had some return of retinal function. Although the follow-up was very short and normal vision was not achieved, this study pro- vides the basis for further gene therapy studies in patients with LCA.
- Published
- 2008