Adeno-associated virus-based gene therapy for hemophilia–addressing the gaps

Authors: Miesbach, Wolfgang ^{1, ∗}, Batty, Paul ^{2, 3}, Chowdary, Pratima ³, Fong, Sylvia ⁴, Kaczmarek, Radoslaw ^{5, 6}, Leebeek, Frank W.G. ⁷, Long, Brian ⁸, Mahlangu, Johnny ⁹, Makris, Mike ¹⁰, Pierce, Glenn F. ¹¹, Pipe, Steven W. ¹², Srivastava, Alok ¹³, Voorberg, Jan ¹⁴, Peyvandi, Flora ^{15, 16}

Source: In Research and Practice in Thrombosis and Haemostasis January 2025 9(1)

Optimizing liver health before and after gene therapy for hemophilia A

Authors: Ragni, Margaret V., Mead, Henry, de Jong, Ype P., Kaczmarek, Radoslaw, Leavitt, Andrew D., Long, Brian, Nugent, Diane J., Sabatino, Denise E., Fong, Sylvia, von Drygalski, Annette, Walsh, Christopher E., Luxon, Bruce A.

Source: In Blood Advances 8 October 2024 8(19):5203-5212

The longitudinal kinetics of AAV5 vector integration profiles and evaluation of clonal expansion in mice

Authors: Ismail, Ashrafali Mohamed, Witt, Evan, Bouwman, Taren, Clark, Wyatt, Yates, Bridget, Franco, Matteo, Fong, Sylvia

Source: In Molecular Therapy - Methods & Clinical Development 12 September 2024 32(3)

Vector integration and fate in the hemophilia dog liver multiple years after AAV-FVIII gene transfer

Authors: Batty, Paul, Fong, Sylvia, Franco, Matteo, Sihn, Choong-Ryoul, Swystun, Laura L., Afzal, Saira, Harpell, Lorianne, Hurlbut, David, Pender, Abbey, Su, Cheng, Thomsen, Hauke, Wilson, Christopher, Youssar, Loubna, Winterborn, Andrew, Gil-Farina, Irene, Lillicrap, David

Source: In Blood 6 June 2024 143(23):2373-2385

Deciphering conundrums of adeno-associated virus liver-directed gene therapy: focus on hemophilia

Authors: Pierce, Glenn F., Fong, Sylvia, Long, Brian R., Kaczmarek, Radoslaw

Source: In Journal of Thrombosis and Haemostasis May 2024 22(5):1263-1289

Adeno-associated viruses for gene therapy – clinical implications and liver-related complications, a guide for hepatologists

Authors: Mücke, Marcus Maximilian ¹, Fong, Sylvia ², Foster, Graham R. ^{3, ∗}, Lillicrap, David ⁴, Miesbach, Wolfgang ⁵, Zeuzem, Stefan ¹

Source: In Journal of Hepatology February 2024 80(2):352-361

Vector genome loss and epigenetic modifications mediate decline in transgene expression of AAV5 vectors produced in mammalian and insect cells

Authors: Handyside, Britta, Ismail, Ashrafali Mohamed, Zhang, Lening, Yates, Bridget, Xie, Lin, Sihn, Choong-Ryoul, Murphy, Ryan, Bouwman, Taren, Kim, Chan Kyu, De Angelis, Rolando, Karim, Omair A., McIntosh, Nicole L., Doss, Michael Xavier, Shroff, Shilpa, Pungor, Erno, Bhat, Vikas S., Bullens, Sherry, Bunting, Stuart, Fong, Sylvia

Source: In Molecular Therapy 7 December 2022 30(12):3570-3586

Intracerebroventricular dosing of N-sulfoglucosamine sulfohydrolase in mucopolysaccharidosis IIIA mice reduces markers of brain lysosomal dysfunction

Authors: Magat, Jenna, Jones, Samantha, Baridon, Brian, Agrawal, Vishal, Wong, Hio, Giaramita, Alexander, Mangini, Linley, Handyside, Britta, Vitelli, Catherine, Parker, Monica, Yeung, Natasha, Zhou, Yu, Pungor, Erno, Slabodkin, Ilya, Gorostiza, Olivia, Aguilera, Allora, Lo, Melanie J., Alcozie, Saida, Christianson, Terri M., Tiger, Pascale M.N., Vincelette, Jon, Fong, Sylvia, Gil, Geuncheol, Hague, Chuck, Lawrence, Roger, Wendt, Daniel J., Lebowitz, Jonathan H., Bunting, Stuart, Bullens, Sherry, Crawford, Brett E., Roy, Sushmita M., Woloszynek, Josh C.

Source: In Journal of Biological Chemistry December 2022 298(12)

Young mice administered adult doses of AAV5-hFVIII-SQ achieve therapeutic factor VIII expression into adulthood

Authors: Zhang, Lening, Yates, Bridget, Murphy, Ryan, Liu, Su, Xie, Lin, Handyside, Britta, Sihn, Choong-Ryoul, Bouwman, Taren, Galicia, Nicole, Tan, Danielle, Fonck, Carlos, Arens, Jeremy, Clark, Annie, Zhang, Weiming, Chandra, Sundeep, Srimani, Jaydeep, Holcomb, Jennifer, Van Tuyl, Andrea, Henshaw, Joshua, Vettermann, Christian, Siso, Silvia, Su, Cheng, Bullens, Sherry, Bunting, Stuart, O’Neill, Charles, Fong, Sylvia

Source: In Molecular Therapy - Methods & Clinical Development 8 September 2022 26:519-531

Application of in-vitro-cultured primary hepatocytes to evaluate species translatability and AAV transduction mechanisms of action

Authors: Liu, Su, Razon, Lisa, Ritchie, Olivia, Sihn, Choong-Ryoul, Handyside, Britta, Berguig, Geoffrey, Woloszynek, Jill, Zhang, Lening, Batty, Paul, Lillicrap, David, Agrawal, Vishal, Cortesio, Christa, Gebretsadik, Kahsay, Akeefe, Hassibullah, Colosi, Peter, Kim, Benjamin, Bunting, Stuart, Fong, Sylvia

Source: In Molecular Therapy - Methods & Clinical Development 8 September 2022 26:61-71

Molecular analysis of AAV5-hFVIII-SQ vector-genome-processing kinetics in transduced mouse and nonhuman primate livers

Authors: Sihn, Choong-Ryoul, Handyside, Britta, Liu, Su, Zhang, Lening, Murphy, Ryan, Yates, Bridget, Xie, Lin, Torres, Richard, Russell, Chris B., O'Neill, Charles A., Pungor, Erno, Bunting, Stuart, Fong, Sylvia

Source: In Molecular Therapy - Methods & Clinical Development 10 March 2022 24:142-153

Intracerebroventricular enzyme replacement therapy with β-galactosidase reverses brain pathologies due to GM1 gangliosidosis in mice

Authors: Chen, Joseph C., Luu, Amanda R., Wise, Nathan, Angelis, Rolando De, Agrawal, Vishal, Mangini, Linley, Vincelette, Jon, Handyside, Britta, Sterling, Harry, Lo, Melanie J., Wong, Hio, Galicia, Nicole, Pacheco, Glenn, Van Vleet, Jeremy, Giaramita, Alexander, Fong, Sylvia, Roy, Sushmita M., Hague, Chuck, Lawrence, Roger, Bullens, Sherry, Christianson, Terri M., d'Azzo, Alessandra, Crawford, Brett E., Bunting, Stuart, LeBowitz, Jonathan H., Yogalingam, Gouri

Source: In Journal of Biological Chemistry 25 September 2020 295(39):13532-13555

Induction of ER Stress by an AAV5 BDD FVIII Construct Is Dependent on the Strength of the Hepatic-Specific Promoter

Authors: Fong, Sylvia, Handyside, Britta, Sihn, Choong-Ryoul, Liu, Su, Zhang, Lening, Xie, Lin, Murphy, Ryan, Galicia, Nicole, Yates, Bridget, Minto, Wesley C., Vitelli, Catherine, Harmon, Danielle, Ru, Yuanbin, Yu, Guoying Karen, Escher, Claudia, Vowinckel, Jakob, Woloszynek, Jill, Akeefe, Hassib, Mahimkar, Rajeev, Bullens, Sherry, Bunting, Stuart

Source: In Molecular Therapy - Methods & Clinical Development 11 September 2020 18:620-630

Prednisolone Does Not Regulate Factor VIII Expression in Mice Receiving AAV5-hFVIII-SQ: Valoctocogene Roxaparvovec

Authors: Zhang, Lening, Handyside, Britta, Murphy, Ryan, Sihn, Choong-Ryoul, Xie, Lin, Vitelli, Catherine, Harmon, Danielle, Sisó, Sílvia, Liu, Su, Bullens, Sherry, Bunting, Stuart, Fong, Sylvia

Source: In Molecular Therapy - Methods & Clinical Development 12 June 2020 17:13-20

Adenovirus‐associated antibodies in UK cohort of hemophilia patients: A seroprevalence study of the presence of adenovirus‐associated virus vector–serotypes AAV5 and AAV8 neutralizing activity and antibodies in patients with hemophilia A

Authors: Stanford, Sophia ^*, Pink, Ruth, Creagh, Desmond, Clark, Amanda, Lowe, Gillian, Curry, Nicola, Pasi, John, Perry, David, Fong, Sylvia, Hayes, Gregory, Chandrakumaran, Kandiah, Rangarajan, Savita

Source: In Research and Practice in Thrombosis and Haemostasis April 2019 3(2):261-267

Gene Therapy with BMN 270 Results in Therapeutic Levels of FVIII in Mice and Primates and Normalization of Bleeding in Hemophilic Mice

Authors: Bunting, Stuart, Zhang, Lening, Xie, Lin, Bullens, Sherry, Mahimkar, Rajeev, Fong, Sylvia, Sandza, Krystal, Harmon, Danielle, Yates, Bridget, Handyside, Britta, Sihn, Choong-Ryoul, Galicia, Nicole, Tsuruda, Laurie, O’Neill, Charles A., Bagri, Anil, Colosi, Peter, Long, Shinong, Vehar, Gordon, Carter, Barrie

Source: In Molecular Therapy 7 February 2018 26(2):496-509

Functional Identification of Distinct Sets of Antitumor Activities Mediated by the FKBP Gene Family

Authors: Fong, Sylvia, Mounkes, Leslie, Liu, Yong, Maibaum, Michael, Alonzo, Eric, Desprez, Pierre-Yves, Thor, Ann D., Kashani-Sabet, Mohammed, Debs, Robert J.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2003 Nov . 100(24), 14253-14258.

Access URL: https://www.jstor.org/stable/3148944

Id-1 as a Molecular Target in Therapy for Breast Cancer Cell Invasion and Metastasis

Authors: Fong, Sylvia, Itahana, Yoko, Sumida, Tomoki, Singh, Jarnail, Coppe, Jean-Philippe, Liu, Yong, Richards, Peter C., Bennington, James L., Lee, Nancy M., Debs, Robert J., Desprez, Pierre-Yves

Source: Proceedings of the National Academy of Sciences of the United States of America, 2003 Nov 01. 100(23), 13543-13548.

Access URL: https://www.jstor.org/stable/3148176

The attribution of animacy and agency in frontotemporal dementia versus Alzheimer's disease

Authors: Fong, Sylvia S., Paholpak, Pongsatorn, Daianu, Madelaine, Deutsch, Mariel B., Riedel, Brandalyn C., Carr, Andrew R., Jimenez, Elvira E., Mather, Michelle M., Thompson, Paul M., Mendez, Mario F.

Source: In Cortex July 2017 92:81-94

Identification of Gene Function and Functional Pathways by Systemic Plasmid-Based Ribozyme Targeting in Adult Mice

Authors: Kashani-Sabet, Mohammed, Liu, Yong, Fong, Sylvia, Desprez, Pierre-Yves, Liu, Shuqing, Tu, Guanghuan, Nosrati, Mehdi, Handumrongkul, Chakkrapong, Liggitt, Denny, Thor, Ann D., Debs, Robert J.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2002 Mar . 99(6), 3878-3883.

Access URL: https://www.jstor.org/stable/3058220