Safety and efficacy of gene transfer for Leber's congenital amaurosis

Albert M. Maguire, Francesca Simonelli, Eric A. Pierce, Edward N. Pugh, Federico Mingozzi, Jeannette Bennicelli, Sandro Banfi, Kathleen A. Marshall, Francesco Testa, Enrico M. Surace, Settimio Rossi, Arkady Lyubarsky, Valder R. Arruda, Barbara Konkle, Edwin Stone, Junwei Sun, Jonathan Jacobs, Lou Dell'Osso, Richard Hertle, Jian Xing MaT. Michael Redmond, Xiaosong Zhu, Bernd Hauck, Olga Zelenaia, Kenneth S. Shindler, Maureen G. Maguire, J. Fraser Wright, Nicholas J. Volpe, Jennifer Wellman McDonnell, Alberto Auricchio, Katherine A. High, Jean Bennett*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1815 Scopus citations


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 investigated the safety of subretinal delivery of a recombinant adeno-associated virus (AAV) carrying RPE65 complementary DNA (cDNA) ( number, NCT00516477). Three patients with LCA2 had an acceptable local and systemic adverse-event profile 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 provides the basis for further gene therapy studies in patients with LCA.

Original languageEnglish (US)
Pages (from-to)2240-2248
Number of pages9
JournalNew England Journal of Medicine
Issue number21
StatePublished - May 22 2008

ASJC Scopus subject areas

  • General Medicine


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