News Release

BALTIMORE — Researchers from the Gene Therapy Program (GTP) at the Perelman School of Medicine at the University of Pennsylvania will present ten research abstracts, two invited talks, and a workshop presentation highlighting their translational science and discovery research on gene therapy, gene editing, and adeno-associated virus (AAV) vector technology at the American Society of Cell and Gene Therapy (ASGCT) 27th Annual Meeting on May 7 - 11, 2024 in Baltimore, Maryland.

The Penn GTP is an academic program focused on genetic medicines led by James M. Wilson, MD, PhD, the Rose H. Weiss Professor and director at the Orphan Disease Center and a professor of Medicine and Pediatrics at the Perelman School of Medicine.

The team at Penn’s GTP continues to make substantial progress in understanding AAV vector biology to support the development of successful gene therapies. In addition, they will present novel applications of a broad range of genetic medicines for rare and acquired diseases with high unmet need.

Key Presentations on AAV Vector Integration and Targeted Gene Insertion

Molecular Forms of AAV in Primate Liver and Long-term Expression (Room 307-308, 8:26 a.m. ET on Thursday, May 9)

AAV Vector Integration (Ballroom 1, 8:52 a.m. ET on Saturday, May 11)

Jenny Greig, PhD, will deliver two presentations that cover the most extensive analysis to date of AAV integrations that occur in nonhuman primates (NHPs) and humans from wild type infections and in NHPs following vector administration, as well as how AAV integration can be harnessed for therapeutic gain.

Efficacy and Toxicology Studies of a Clinical Candidate Dual AAV-Delivered, Meganuclease-Mediated, Gene Insertion Approach for Ornithine Transcarbamylase Deficiency (Abstract 1195)

Claude Warzecha, PhD, will present data from a minimal effective dose study in mice for a dual AAV vector-delivered, meganuclease-mediated gene insertion approach to treat ornithine transcarbamylase deficiency (OTCD); he will also present safety data from a one-year toxicology study in infant rhesus macaques.  This work contributed to recent clinical trial clearances by various regulatory authorities including the US FDA for ECUR-506, an investigational new drug for neonatal onset OTC deficiency.  Warzecha will present a poster in the Exhibit Hall starting at 12 p.m. ET on Thursday, May 9.

In Silico Prediction Tool for Meganuclease Off-Target Sites (Abstract 257)

Zhe Zhang, PhD, will outline the development of an in silico tool that enables the prediction of off-target gene editing sites, which could provide insights into the potential safety of meganuclease-based gene editing therapies. Zhang will present this work in an oral presentation in Ballroom 3 at 2:15 p.m. ET on Friday, May 10.

Dual AAV-Delivered, Meganuclease-Mediated Gene Insertion Approach for the Treatment of Citrullinemia Type 1 (Abstract 1194)

Mark Urban, PhD, will present data from an NHP study evaluating the feasibility of using a dual AAV vector, meganuclease-mediated targeted gene insertion approach to treat citrullinemia type 1 (CTLN1). Urban will present a poster in the Exhibit Hall starting at 12:00 p.m. ET on Thursday, May 9.

Dual AAV-Delivered, Meganuclease-Mediated Gene Insertion Approach for the Treatment of Phenylketonuria - Proof-of-Concept Study in Rhesus Macaques (Abstract 1193)

Bénédicte Rousseau, PhD, will present data from a proof-of-concept study in rhesus macaques that utilizes a similar gene insertion approach to treat phenylketonuria (PKU). Rousseau will present a poster in the Exhibit Hall starting at 12:00 p.m. on Thursday, May 9.

Key Presentations in Genetic Medicine Development and Safety

Development of a Computational Pipeline to Improve Engineered Capsid Identification from Defined and Random AAV9 Peptide Insert Libraries (Abstract 497)

Rosemary Meggersee, PhD, will outline the development of cutting-edge data analytical techniques to optimize hit picking and AAV capsid engineering efforts in the discovery phase. This work will be presented as a poster in the Exhibit Hall starting at 12:00 p.m. ET on Wednesday, May 8.

Toxicity Profile of Clade F Vectors Administered Intravenously in Nonhuman Primates (Abstract 299)

Different aspects of AAV gene therapy safety will be covered by Juliette Hordeaux, DVM, PhD, DECVP, in two presentations. Safety considerations for AAV administration to the central nervous system will be covered in her accredited Continuing Medical Education workshop on Tuesday morning, May 7, while a systematic analysis of toxicity observed in NHPs following intravenous vector administration will be presented in this research talk. This highly translational work enhances our understanding of AAV toxicity to help improve safety outcomes in the clinic. Hordeaux will deliver an oral presentation in Ballroom 4 at 4:30 p.m. ET on Friday, May 10.

Impact of Pre-existing Neutralizing Antibodies on Transduction, Safety, And Shedding of AAVhu68.FXN Following Intraparenchymal Injection into the Dentate Nucleus (Abstract 1876)

Gourav Roy Choudhury, PhD, will present work evaluating the impact of circulating neutralizing antibodies (NAb) on AAV vector transduction and transgene expression in rhesus macaques that received direct brain injections. These preclinical data provide support for extending clinical trial inclusion criteria to permit the participation of NAb-positive patients in AAV-based clinical trials involving direct AAV administration to the brain. Roy Choudhury will present a poster in the Exhibit Hall starting at 12:00 p.m. ET on Friday, May 10.

Development of an Adeno-Associated Virus Gene Therapy for the Treatment of CDKL5 Deficiency Disorder (Abstract 270)

Janine Lamonica, PhD, will showcase data from mouse and NHP studies involved in the development of an AAV gene therapy for the X-linked cyclin-dependent kinase-like 5 (CDKL5) deficiency disorder (CDD), a severe neurodevelopmental condition. Lamonica will give an oral presentation in Room 307-308 at 2:00 p.m. ET on Friday, May 10.

Preclinical Therapeutic Efficacy of Novel Bicistronic Adeno-Associated Virus Vectors for GM2 Gangliosidosis Gene Therapy (Abstract 1095).

Ali Ramezani, PhD, will review the development of novel AAV vectors that express both HEXA and HEXB genes (i.e., bicistronic) to overcome the shortcomings of delivery strategies involving co-administration of two AAV vectors. These promising data highlight the potential efficacy of bicistronic AAV vectors in the treatment of GM2 gangliosidoses such as Tay-Sachs disease and Sandhoff disease. Ramezani will present a poster in the Exhibit Hall starting at 12:00 p.m. ET on Thursday, May 9.

Adeno-Associated Virus-Mediated Expression of Rituximab for the Treatment of Central Nervous System Lymphoma (Abstract 1774)

Marcela Salazar Werner, PhD, will provide an overview of the development of a Rituximab-expressing AAV vector for direct administration to the central nervous system (CNS) to treat CNS lymphomas, a group of rare, currently incurable malignancies. Salazar Werner will present a poster in the Exhibit Hall starting at 12:00 p.m. ET on Friday, May 10.


Penn Medicine is one of the world’s leading academic medical centers, dedicated to the related missions of medical education, biomedical research, excellence in patient care, and community service. The organization consists of the University of Pennsylvania Health System and Penn’s Raymond and Ruth Perelman School of Medicine, founded in 1765 as the nation’s first medical school.

The Perelman School of Medicine is consistently among the nation's top recipients of funding from the National Institutes of Health, with $550 million awarded in the 2022 fiscal year. Home to a proud history of “firsts” in medicine, Penn Medicine teams have pioneered discoveries and innovations that have shaped modern medicine, including recent breakthroughs such as CAR T cell therapy for cancer and the mRNA technology used in COVID-19 vaccines.

The University of Pennsylvania Health System’s patient care facilities stretch from the Susquehanna River in Pennsylvania to the New Jersey shore. These include the Hospital of the University of Pennsylvania, Penn Presbyterian Medical Center, Chester County Hospital, Lancaster General Health, Penn Medicine Princeton Health, and Pennsylvania Hospital—the nation’s first hospital, founded in 1751. Additional facilities and enterprises include Good Shepherd Penn Partners, Penn Medicine at Home, Lancaster Behavioral Health Hospital, and Princeton House Behavioral Health, among others.

Penn Medicine is an $11.1 billion enterprise powered by more than 49,000 talented faculty and staff.

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