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Gene Therapy for Rare Diseases

Gene Therapy for Rare Diseases

Tuesday, April 11, 2017

The New York Academy of Sciences

Presented By

Biochemical Pharmacology Discussion Group

The New York Academy of Sciences


Numerous life-threatening rare diseases are due to single gene mutations that manifest within several months of birth. With no effective treatment options, these monogenic diseases require constant and expensive care. Gene therapy is beginning to show clinical promise as a strategy for treating rare diseases, but faces challenges around safe, consistent, and durable gene delivery to targeted tissues. This symposium will explore recent advances in gene therapy for rare diseases, identify issues that remain to be addressed in order for gene therapy to become more widely used, and explore opportunities for application to other disease areas.

Registration Pricing

Member (Student / Postdoc / Fellow)$25
Nonmember (Academia)$105
Nonmember (Corporate)$160
Nonmember (Non-profit)$105
Nonmember (Student / Postdoc / Fellow)$70

This event also will be broadcast via webinar. Registration is required.

Please note: Transmission of presentations via the webinar is subject to individual consent by the speakers. Therefore, we cannot guarantee that every speaker's presentation will be broadcast in full via the webinar. To access all speakers' presentations in full, we invite you to attend the live event in New York City where possible.

Webinar Pricing

Member (Student / Postdoc / Fellow)$15
Nonmember (Academia)$65
Nonmember (Corporate)$85
Nonmember (Non-profit)$65
Nonmember (Student / Postdoc / Fellow)$45


* Presentation times are subject to change.

Tuesday, April 11, 2017

8:30 AM

Breakfast and Registration

9:00 AM

Introduction and Welcome Remarks
Sonya Dougal, PhD, The New York Academy of Sciences
Tim Miller, PhD, Abeona Therapeutics

Session 1

9:15 AM

Gene Therapy for Pompe Disease: Approaches to the CNS and Immune Response
Barry J. Byrne, MD, PhD, University of Florida Powell Gene Therapy Center

9:50 AM

Therapeutic DNA Repair: From Cloning to Clinic
Jakub Tolar, MD, PhD, University of Minnesota

10:25 AM

Gene Delivery Translation in Spinal Muscular Atrophy
Brian Kaspar, PhD, AveXis Inc.

11:00 AM

Networking Coffee Break

11:30 AM

AAV Vectors in Early Clinical Phase I Studies: Lesson Learned
R. Jude Samulski, PhD, Bamboo Therapeutics
* Presenter slides will not be included as part of the webinar broadcast

12:05 PM

Evaluating Outcomes of Gene Therapy for Neurodegenerative Diseases
Maria Escolar, MD, MS, University of Pittsburgh

12:40 PM

Antigen-Specific Modulation of Capsid Immunogenicity with Tolerogenic Nanoparticles Enables Effective AAV vector Readministration
Takashi Kei Kishimoto, PhD, Selecta Biosciences, Inc.

12:50 PM

Systemic AAV9 Gene Therapy Improves the Lifespan of Mice with Niemann-Pick Disease, Type C1
Cristin D. Davidson, PhD, Albert Einstein College of Medicine

1:00 PM

Networking Lunch and Poster Viewing

Session 2

2:00 PM

Strategies and Applications for Widespread CNS Gene Transfer Using AAV Vectors
Steven J. Gray, PhD, University of North Carolina at Chapel Hill

2:35 PM

Systemic Gene Transfer of scAAV9.u1a.hsGSH for MPS IIIA
Kevin Flanigan, MD, Center for Gene Therapy, Nationwide Children's Hospital

3:10 PM

Networking Coffee Break

3:35 PM

AAV Gene Therapy for Rare Disease: Prospects and Problems in Clinical Development of a Novel Class of Therapists
Katherine A. High, MD, Spark Therapeutics
* Presenter slides will not be included as part of the webinar broadcast

4:10 PM

Next Steps for Developing Therapeutics for Rare Diseases
Moderator: George Zavoico, PhD, JonesTrading
Katherine A. High, MD, Spark Therapeutics
Tim Miller, PhD, Abeona Therapeutics
R. Jude Samulski, PhD, Bamboo Therapeutics
Maria Escolar, MD, MS, University of Pittsburgh

4:50 PM

Closing Remarks and F1000 Poster Prize Presentation

5:00 PM

Networking Reception

6:00 PM



Tim Miller, PhD

Abeona Therapeutics

Timothy J. Miller, PhD is President and Chief Executive Officer and a Director of Abeona Therapeutics Inc. He has 18 years of scientific research, product development and clinical operations expertise, with a focus on transitioning novel biotherapeutics through pre-clinical phases and into Phase 1 and 2 human clinical trials. Dr. Miller was President & CEO of Red5 Pharmaceuticals from 2013 until 2015 and was CEO-in-Residence at BioEnterprise Inc. in 2015. He was Senior Director of Product Development at SironRX Therapeutics from 2010 to 2013. Between 1996 and 2010 Dr. Miller held various positions at several biotech companies focusing on gene therapy and regenerative medicine. Dr. Miller earned his PhD in Pharmacology with a focus on Gene therapy/Cystic Fibrosis from Case Western University. He also holds a BS in Biology and MS in Molecular Biology from John Carroll University (Cleveland, OH).

He has raised over $100M for therapies in cystic fibrosis, cardiovascular disease, wound healing, scar prevention, and rare diseases to advance these therapies into clinical trials. As a serial entrepreneur, he has managed all aspects of research and development, manufacturing of biologics, and clinical program start-up in both public and private companies, with direct experience engaging Food and Drug Administration (FDA) and NIH advisory agencies on multiple Investigational New Drug (IND) submissions. During his career, he has contributed to multiple patent applications, managed intellectual property, and published research in several internationally recognized journals. He has a passion for supporting patient advocacy.

George Zavoico, PhD

JonesTrading Institutional Services

George B. Zavoico, PhD, is a Senior Equity Analyst, Healthcare, at JonesTrading Institutional Services, a leading equity trading firm with a focus on block trading and a growing capital markets business. He has over 11 years of experience as a life sciences analyst writing research on publicly traded equities. His principal focus is on biotechnology, biopharmaceutical, specialty pharmaceutical, and molecular diagnostics companies. He received The Financial Times / Starmine Award two years in a row for being among the top-ranked earnings estimators in the biotechnology sector. In 2009, Zavoico was hired as the first equity analyst at MLV & Co., a New York-based boutique investment bank and institutional broker-dealer at the time, where he helped establish its Healthcare research team. He returned to MLV in mid-2014 after serving for a brief period as a Senior Equity Analyst at H.C. Wainwright & Co. in early 2014, and then joined JonesTrading in early 2015.

Previously, Zavoico was an equity research analyst in the healthcare sector at Westport Capital Markets and Cantor Fitzgerald. Prior to working as an analyst, Zavoico established his own consulting company serving the biotech and pharmaceutical industries, providing competitive intelligence and marketing research, due diligence services and guidance in regulatory affairs. Zavoico began his career as a senior research scientist at Bristol-Myers Squibb Co., moving on to management positions at Alexion Pharmaceuticals Inc. and T Cell Sciences Inc. (now Celldex Therapeutics Inc.). Zavoico has a bachelor's degree in biology from St. Lawrence University and a PhD in physiology from the University of Virginia. He held post-doctoral fellowships at the University of Connecticut School of Medicine and Harvard Medical School / Brigham & Women's Hospital. He has published more than 30 papers in peer-reviewed journals and has coauthored four book chapters.

Sonya Dougal, PhD

The New York Academy of Sciences

Caitlin McOmish, PhD

The New York Academy of Sciences


Barry Byrne, MD, PhD

University of Florida Powell Gene Therapy Center

Dr. Barry J. Byrne is a clinician scientist interested in a variety of rare diseases, with specific attention to developing therapies for inherited muscle disease. As a pediatric cardiologist, his focus is on conditions that lead to skeletal muscle weakness, cardiac dysfunction and respiratory dysfunction. His research team has made significant contributions to the understanding and treatment of Pompe disease, a type of muscular dystrophy resulting from abnormal glycogen accumulation in the muscle. His current research has focused on developing new therapies using the missing cellular protein or the corrective gene to restore muscle function in Pompe and other inherited myopathies.

Dr. Byrne is the Associate Chair of Pediatrics and Director of the Powell Gene Therapy Center at the University of Florida. After obtaining a BS degree in Chemistry from Denison University, he pursued his medical education, as well as a PhD in Microbiology and Immunology, at the University of Illinois. He completed his pediatric residency, cardiology fellowship training and post-doctoral training in Biological Chemistry at Johns Hopkins University. Joining the University of Florida in 1997, he has served in a variety of clinical, research and educational roles, and is now the Earl and Christy Powell University Chair in Genetics.

Maria Escolar, MD, MS

University of Pittsburgh

After receiving her medical degree in Colombia in 1986, Dr. Maria Luisa Escolar came to the United States to complete a residency in Pediatrics and a fellowship in Child Development and Behavioral Pediatrics at New York Hospital-Cornell Medical Center. Within one year of encountering her first patient with Krabbe disease in 2000, Dr. Escolar established the Program for the Study of Neurodevelopment in Rare Disorders and relocated her program to Children's Hospital of Pittsburgh of UPMC in 2011. This Program is the only one of its kind in the United States and focuses on understanding the behavioral and neurological abnormalities of inherited brain disorders caused by genetic mutations, such as the mucopolysaccharidoses (MPS) and leukodystrophies. Dr. Escolar's research focuses on developing better methods to understand the impact of brain abnormalities on neurobehavioral function. She has developed new methods to understand function in neurodegeneration and a new neuroimaging tool able to quantitate changes in myelination as early as birth. She has published more than 60 papers in medical journals, including two articles published in the New England Journal of Medicine. Dr. Escolar is board certified in Pediatrics and Neurodevelopmental Disabilities.

Kevin Flanigan, MD

Nationwide Children's Hospital

Dr. Flanigan trained in Neurology and Neuromuscular Disease at Johns Hopkins University, and pursued a post-doctoral fellowship in Human Molecular Biology and Genetics at the University of Utah. After 14 years on the faculty in Utah, he moved to Ohio State University as Professor of Pediatrics and Neurology in 2009. He is the Robert F. & Edgar T. Wolfe Foundation Endowed Chair in Neuromuscular Research, Director, of Nationwide Children's Center for Gene Therapy and co-Director of the NCH Muscular Dystrophy Association Clinic. He has been a member of the Executive Board of the World Muscle Society since 2001, and is a member of the Executive Committee of TREAT-NMD, the international alliance directed toward establishing the infrastructure to ensure that promising new therapies reach patients as quickly as possible. His laboratory work is directed toward the molecular characterization and therapy of neuromuscular diseases, and the identification of genetic modifiers of disease. He is also conducted multiple clinical trials in Duchenne muscular dystrophy, including trials of gene modifying therapies such as nonsense suppression and exon skipping.

Steven J. Gray, PhD

University of North Carolina at Chapel Hill

Dr. Steven Gray earned his PhD in molecular biology from Vanderbilt University in 2006, after receiving a BS degree with honors from Auburn University. He performed a postdoctoral fellowship focusing on gene therapy in the laboratory of Jude Samulski at UNC. He is currently an assistant professor at UNC in the Department of Ophthalmology. He is also a member of the Gene Therapy Center and the Carolina Institute for Developmental Disabilities (CIDD).

Dr. Gray's core expertise is in AAV gene therapy vector engineering, followed by optimizing approaches to deliver a gene to the nervous system or eye. His major focus is in AAV vector development to develop vectors tailored to serve specific clinical and research applications involving the nervous system or eye. These include the development of novel AAV capsids amenable to widespread CNS gene transfer or specialized ocular gene transfer. As AAV-based platform gene transfer technologies have been developed to achieve global, efficient, and in some cases cell-type specific CNS gene delivery, his research focus has also included preclinical studies to apply these reagents toward the development of treatments for neurological diseases. Currently these include preclinical studies for Rett Syndrome, Giant Axonal Neuropathy (GAN), Tay-Sachs, Krabbe, AGU, and Batten Disease, and have expanded into human clinical studies to test a gene therapy approach for GAN.

Dr. Gray has published over 50 peer-reviewed papers in journals such as New England Journal of Medicine, Molecular Therapy, Nature Biotechnology, Gene Therapy, and The Proceedings of the National Academy of Sciences. He also has 3 pending patents. His research is funded by the National Institute for Neurological Disorders and Stroke, as well as numerous large and small research foundations. Dr. Gray was recently recognized with the 2016 Healthcare Hero award by the Triangle Business Journal, and his work on GAN was featured in a story by the CBS National Evening News in 2015.

Katherine A. High, MD

Spark Therapeutics

Dr. Kathy High, an accomplished hematologist with a longstanding interest in gene therapy for genetic disease, began her career studying the molecular basis of blood coagulation and the development of novel therapeutics for the treatment of bleeding disorders. Her pioneering bench-to-bedside studies of gene therapy for hemophilia led to a series of studies that characterized the human immune response to AAV vectors in a variety of target tissues. Kathy's work has evolved to encompass clinical translation of potential gene therapies for multiple inherited disorders. As the director of the Center for Cellular and Molecular Therapeutics at the Children's Hospital of Philadelphia, Kathy assembled a multidisciplinary team of scientists and researchers working to discover new gene and cell therapies for genetic diseases and to facilitate rapid translation of preclinical discoveries into clinical application.

Kathy was a long-time member of the faculty at the University of Pennsylvania and of the medical staff at CHOP, where she was also an Investigator of the Howard Hughes Medical Institute. She served a five-year term on the FDA Advisory Committee on Cell, Tissue and Gene Therapies and is a past president of the American Society of Gene & Cell Therapy (ASGCT). She received her AB in chemistry from Harvard University, an MD from the University of North Carolina School of Medicine, a business certification from the University of North Carolina Business School Management Institute for Hospital Administrators and an MA from the University of Pennsylvania.

Brian Kaspar, PhD

AveXis Inc.

Dr. Kaspar's research focuses on basic and translational studies related to neurological and neuromuscular disorders. The laboratory has strengths in animal models of neurodegenerative and neuromuscular disease, gene delivery, and stem cell biology. A main focus of the Kaspar laboratory is centered on the mechanism(s) of neurodegeneration in Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA). Rodent models of this disease are employed to investigate various cell type involvements in disease onset and progression. Furthermore, Kaspar laboratory is actively developing novel methods to deliver genes and therapies more efficiently to the nervous system and testing novel targets to combat this debilitating, lethal disease. Additionally, the laboratory also investigates the biological control of embryonic and adult derived stem cells. Current studies with stem cells are evaluating cell cycle regulation along with developing methods for intricate control of differentiation to defined cellular phenotypes, such as complex motor neurons. Finally, the laboratory works on muscle enhancing strategies in order to combat musculoskeletal disorders.

R. Jude Samulski, PhD

Bamboo Therapeutics

Dr. Samulski received his PhD in Medical Microbiology and Immunology from the University of Florida. Dr. Samulski's graduate work (1978-82) involved cloning of AAV as a viral vector and culminated in the first US patent involving non-AAV genes inserted into AAV.

Dr Samulski has worked with adeno-associated virus (AAV) for 35 years, and was the Director of the University of North Carolina Gene Therapy Center for over 20 years. Dr. Samulski Research has focused on AAV-based gene therapy. Dr Samulski is a former member of the Recombinant DNA Advisory Committee (RAC), a committee tasked with assisting the FDA with approving or disapproving gene therapy clinical trials in the United States. He also has served as a gene therapy consultant to the FDA.

Jakub Tolar, MD, PhD

University of Minnesota

Dr. Tolar is originally from the Czech Republic, and received his medical education in Prague at the Charles University. In 1992, he came to the University of Minnesota, where he completed his PhD in Molecular, Cellular & Developmental Biology and Genetics. He is currently a distinguished McKnight Professor in the Department of Pediatrics, Blood and Marrow Transplantation, the Edmund Wallace Tulloch & Anna Marie Tulloch Chair in Stem Cell Biology, Genetics & Genomics, and the Director of the Stem Cell Institute. He is a member of the graduate faculty of the Microbiology, Immunology and Cancer Biology Program, the Molecular, Cellular, and Developmental Biology and Genetics Program, and the Stem Cell Biology Program.

Dr. Tolar's research focuses on finding new ways of treating children with lethal diseases—cancer, inborn errors of metabolism, and devastating genetic disorders—using stem cell transplantation. He is also looking for safer and more effective methods of repairing and using a patient's own cells in diseases such as epidermolysis bullosa, mucopolysaccharidosis type I (Hurler syndrome), Fanconi anemia, and dyskeratosis congenita.


Gene Therapy for Pompe Disease: Approaches to the CNS and Immune Response
Barry J. Byrne, MD, PhD, University of Florida Powell Gene Therapy Center

Pompe disease results from a deficiency or absence of the lysosomal enzyme acid alpha glucosidase (GAA), resulting in lysosomal accumulation of glycogen which impacts striated muscle and motorneurons. The weakness observed in patients is a manifestation of the cellular changes in muscle and the CNS and includes alterations in the neuromuscular junction (NMJ). Cardiorespiratory failure is the leading cause of morbidity and mortality in Pompe patients. We have investigated the utility of AAV vectors expressing GAA to restore lysosomal function in several non-clinical studies a phase I/II study in ventilator-dependent and independent pediatric Pompe patients. mIn a series of preclinical studies, we have found that restoration of GAA activity in muscle and neural tissue is able to reverse ventilatory insufficiency by reversing motor neuron dysfunction and restoring the integrity of the NMJ. The principle defect in the motor unit is related to deficiency of NMJ structure and function. New evidence also indicates the need for early intervention related to neural dysfunction since motor neurons show evidence of apoptosis in the murine model of Pompe disease. These deficits are present early in the mouse model and restoration of GAA activity in the muscle and neurons before 6 months of age leads to restoration of in situ force production. After 18 months of age, the loss in motor neurons leads to permanent deficits in force production of the tibialis anterior.
Nine children were studied in the first Pompe gene therapy trial and all subjects have undergone one year of follow up. There were no adverse events related to the study agent. All children had improvement in spontaneous ventilatory endurance from baseline to the one-year study endpoint. Additionally, findings related to immune management pave the way to the current clinical studies in adults and younger subjects who are candidates for systemic admiration of a next-generation AAV vector delivered systemically. The loss of neuromuscular junction formation is a major contributor of weakness and ventilatory failure and these deficits can be prevented by early administration of AAV-GAA which leads to rescue of the CNS deficits. Current studies utilizing AAV9-GAA are expected to lead to more efficient targeting of muscle and motor neurons following systemic vector delivery.

Evaluating Outcomes of Gene Therapy in Neurodegenerative Diseases
Maria Escolar, ML, MD, MS, University of Pittsburgh School of Medicine

There has been significant progress in the field of gene therapy for rare diseases. One of the most challenging problems in developing treatments for neurodegenerative conditions is to measure the effectiveness of therapy in very small populations. During the last 17 years our group has worked on quantitating changes in the rapidly growing but degenerating brain of children with rare disorders. The purpose of our work is to understand the variability in disease progression in small populations and understanding the effect of age of onset of disease with the purpose of accurately measuring the effectiveness of a novel treatment. Theoretical concepts in brain development, effects of neurodegeneration and defining best practices in the context of brain injury will guide our selection of meaningful outcome measures. The utility of standardized behavioral tools, neuroimaging analysis and biomarkers in quantitating the effects of gene therapy in the brain will be discussed.

Strategies and Applications for Widespread CNS Gene Transfer Using AAV Vectors
Steven J. Gray, PhD, Gene Therapy Center, Carolina Institute for Developmental Disorders, and University of North Carolina

Gene therapy for central nervous system (CNS) disorders has seen a recent resurgence with the discovery of adeno-associated virus (AAV) vectors that are capable of crossing the blood-brain barrier (BBB), such as AAV9. Multiple studies have demonstrated that AAV9 can achieve dose-dependent, widespread gene transfer to neurons and astrocytes in mice as well as in non-human primates, by either intravenous (IV) or intrathecal (IT) vector administration. Clinical trials have been initiated using AAV9 vectors injected IV, for Spinal Muscular Atrophy and Mucopolysaccharidosis Type IIIA, or IT, for Giant Axonal Neuropathy and Neuronal Ceroid Lipofuscinosis (NCL) Type 6. With encouraging safety and efficacy data reported from these trials, IV or IT administration of AAV9 vectors is emerging as a platform approach to treat multiple CNS disease.
Our lab has been comparing the relative utility of the IT route versus an IV route for AAV9 injection, as well as a lumbar IT versus cisterna magna route, in several preclinical mouse models including those for infantile NCL (CLN1), Rett Syndrome, and Aspartylglucosaminuria. Overall, especially for lysosomal storage diseases that can benefit from cross-correction, a lumbar IT route has been sufficient to supply superphysiological levels of the missing enzyme to peripheral organs while also treating the CNS, at a considerably lower dose as compared to an IV injection. The advantages and disadvantages of the 2 routes of administration will be compared, and the possible benefit of a combined IT+IV vector administration for certain scenarios will be discussed.
Coauthors: Alejandra Rozenberg, Erik Lykken, Xin Chen, Sarah Sinnett, and Rachel M. Bailey; Gene Therapy Center

AAV Gene Therapy for Rare Disease: Prospects and Problems in Clinical Development of a Novel Class of Therapeutics
Katherine A. High, MD, Spark Therapeutics, Philadelphia

This presentation will discuss clinical development programs in AAV-mediated gene therapy for two different conditions- a rare form of congenital blindness, and the bleeding disorder hemophilia B, and will highlight differing challenges in drug development in these two settings. Factors to be discussed include: availability of well-defined registration endpoints vs. need to develop novel endpoints; ease of measuring transgene product expression levels; challenges in delivery as a function of route of administration; availability of robust natural history data and effects on choice of controls; and differences in immune responses as a function of the target tissue. The effects of time to initial clinical readout, and differing demands on manufacturing capabilities will also be discussed.

Therapeutic DNA Repair: From Cloning to Clinic
Jakub Tolar, MD, PhD, University of Minnesota

The discovery of genes has revolutionized our understanding of the biological world. Now, the ability to edit genes has re-defined the way we think about medicine. Gene editing is based on the concepts of nucleic acids transmitting information via a digital code, and the natural mutating variance of nucleic acids as a substrate for evolutionary selection. Human genetic disorders are clinical representations of these variations. Gene editing offers-for the first time-a technology whereby the disease-causing mutations can be eliminated by re-coding the affected gene. Synthetic molecules with the dual functions of identifying and cutting the DNA at a specific genomic location proximal to the targeted mutation are one of the most elegant examples of current biology's emerging ability to engineer clinically relevant interventions at the site of the problem, i.e., at a molecular level. Gene editing offers the additional advantages that: [1] the gene restored to function remains under the physiological control of the native promoter, [2] these gene-editing molecules can be multiplexed to modify several molecular targets at once, and [3] when paired with activation or repression, they can be used to regulate gene expression. Gene editing offers an improved future for patients with untreatable or incurable genetic disorders-freedom from the limitations of their disease. As one of the most critical tools to be combined with stem cell biology, regenerative medicine, and transplantation biology-gene editing will govern our practice of medicine and experience of life in the 21st century.

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