Absence of lenadogene nolparvovec DNA in a brain tumor biopsy from a patient in the REVERSE clinical study, a case report

Autor: Newman, Nancy J, Schniederjan, Matthew, Mendoza, Pia R, Calkins, David J, Yu-Wai-Man, Patrick, Biousse, Valérie, Carelli, Valerio, Taiel, Magali, Rugiero, Francois, Singh, Pramila, Rogue, Alexandra, Sahel, José-Alain, Ancian, Philippe

Publikováno v: BMC Neurology. 22

Background Leber Hereditary Optic Neuropathy (LHON) is a rare, maternally-inherited mitochondrial disease that primarily affects retinal ganglion cells (RGCs) and their axons in the optic nerve, leading to irreversible, bilateral severe vision loss.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f13ffa6d6beef41f8491e35bf7bc312f
https://doi.org/10.1186/s12883-022-02787-y

Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset

Autor: Irena Tsui, Claudia B. Catarino, Piero Barboni, Günther Rudolph, Nancy J. Newman, Sara Silvestri, Alfredo A. Sadun, Michael Dattilo, Neringa Jurkute, Jean-François Girmens, Cosima Schertler, Magali Taiel, Rustum Karanjia, Claudia Priglinger, Maria K Gemenetzi, Armin Wolf, Manuela Contin, Jasmina Al-Tamami, Thomas Klopstock, James Acheson, Robert C. Sergott, Deborah Gibbs, Rabih Hage, Stephan R. Thurau, Adam A. DeBusk, Lidia Di Vito, Mark L. Moster, Valérie Biousse, Med Lindreth DuBois, Valerio Carelli, Gad Heilweil, Chiara La Morgia, Michele Carbonelli, Andrew Hendrick, Patrick Yu-Wai-Man, Jason H. Peragallo, Gerard Smits, Angelika Pressler, Martin Hildebrandt, Alcides Fernandes Filho, Michael Neuenhahn, Bettina von Livonius, Barrett Katz, Daniel R Muth, Siegfried G. Priglinger, Lauren Leitch-Devlin, Susan Mohamed, William R. Tucker, Maria Massini, Maria Eleftheriadou, Laure Blouin, Catherine Vignal-Clermont, Eman Hawy, Simona Degli Esposti, Heather Tollis, G. Baker Hubbard, Jannah Rutter Dobbs, José-Alain Sahel, Catherine Vignal, Melissa SantaMaria, Julie A. Haller

Publikováno v: Ophthalmology: Journal of The American Academy of Ophthalmology
Ophthalmology: Journal of The American Academy of Ophthalmology, Elsevier, 2021, 128 (5), pp.649-660. ⟨10.1016/j.ophtha.2020.12.012⟩
Ophthalmology 128(5), 649-660 (2021). doi:10.1016/j.ophtha.2020.12.012

International audience; Purpose: To evaluate the efficacy of a single intravitreal injection of rAAV2/2-ND4 in subjects with visual loss from Leber hereditary optic neuropathy (LHON).Design: RESCUE is a multicenter, randomized, double-masked, sham-co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61639fdbd5cf15223e6676350bc8de96
https://hal.sorbonne-universite.fr/hal-03238444/file/1-s2.0-S0161642020311878-main.pdf

Postnatal Cardiac Gene Editing Using CRISPR/Cas9 With AAV9-Mediated Delivery of Short Guide RNAs Results in Mosaic Gene Disruption

Autor: Charlotte Demkes, Mauro Giacca, Bastiaan Spanjaard, Farhad Akbari Moqadam, Lieneke Kooijman, Hesther de Ruiter, Lorena Zentilin, D Versteeg, Bas Molenaar, Anne Katrine Johansen, Eva van Rooij, Ana Rita Leitoguinho

Publikováno v: Circulation Research, 121(10), 1168-1181. Lippincott Williams & Wilkins

Rationale: CRISPR/Cas9 (clustered regularly interspaced palindromic repeats/CRISPR-associated protein 9)–based DNA editing has rapidly evolved as an attractive tool to modify the genome. Although CRISPR/Cas9 has been extensively used to manipulate

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb66c30d26a595eda1fb2d3c95d584e3
https://doi.org/10.1161/circresaha.116.310370

In Vivo Functional Selection Identifies Cardiotrophin-1 as a Cardiac Engraftment Factor for Mesenchymal Stromal Cells

Autor: Lorena Zentilin, Francesca Bortolotti, Sara Doimo, Lawrence Banks, Antonella Falcione, Pierluigi Lesizza, Mauro Giacca, Giulia Ruozi, Matteo Dal Ferro, Serena Zacchigna

Publikováno v: Circulation. 136(16)

Background: Transplantation of cells into the infarcted heart has significant potential to improve myocardial recovery; however, low efficacy of cell engraftment still limits therapeutic benefit. Here, we describe a method for the unbiased, in vivo s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::131c13fd761379973e533d13e30af79f
https://pubmed.ncbi.nlm.nih.gov/29038207

Safety and durability of effect of contralateral-eye administration of AAV2 gene therapy in patients with childhood-onset blindness caused by RPE65 mutations: a follow-on phase 1 trial

Autor: Alberto Auricchio, Katherine A. High, Julie DiStefano-Pappas, Kathleen A. Marshall, Dominique Cross, J. Fraser Wright, Albert M. Maguire, Puya Aravand, Okan U. Elci, Sarah McCague, Federico Mingozzi, Laura Cyckowski, Bart P. Leroy, Daniel C. Chung, Jennifer Wellman, Jason Ruggiero, Francesca Simonelli, Eric A. Pierce, Junwei Sun, Manzar Ashtari, Jeannette L. Bennicelli, Jean Bennett

Publikováno v: LANCET
LANCET, 2016, 388 (10045), pp.661-72. ⟨10.1016/S0140-6736(16)30371-3⟩
The Lancet
The Lancet, 2016, 388 (10045), pp.661-72. ⟨10.1016/S0140-6736(16)30371-3⟩

International audience; BACKGROUND: Safety and efficacy have been shown in a phase 1 dose-escalation study involving a unilateral subretinal injection of a recombinant adeno-associated virus (AAV) vector containing the RPE65 gene (AAV2-hRPE65v2) in i

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9adfa71eeaec8bb5fe1e821d109f2c2
http://hdl.handle.net/11591/358419