Progress in Halting Pompe Disease

April 15, 2021

Dear Colleagues and Friends,

In commemorating International Pompe Day on April 15, we are proud to host a special webinar, “Progress in Halting Pompe Disease,” to raise awareness of not only the disease but of ongoing efforts for better care and cure. This is the fifth complimentary webinar in the rare disease series, where we convene physicians, drug developers, patients, and advocates to critically examine the current state of rare diseases that impact more than 300 million patients worldwide.

You are welcome to watch the on-demand video on WuXi AppTec YouTube page.

Below are our past events in the “Collaborations that Transform” series.



Advances in Rare Diseases: Hemophilia

Spinal Muscular Atrophy (SMA)

Emerging Opportunities in Multiple Sclerosis and Neuroscience


WuXi Rare Disease Awareness Concert on International Rare Disease Day 2021



8:00 AM


Hui Cai, Program Chair, VP and Head of Content, WuXi AppTec

8:05 AM

Racing against Time in Rare Diseases

John Crowley, Chairman & CEO, Amicus Therapeutics

Moderator: Simone Fishburn, VP & Editor in Chief, BioCentury

8:25 AM

Closing the Gap in Pompe Disease: Where Are We Heading

Tiffany House, Chairman & Board Member, International Pompe Association

Priya Kishnani, C.L. and Su Chen Professor of Pediatrics, Division Chief, Medical Genetics, Duke University Medical Center

Brad Crittenden, Executive Director, Canadian Association of Pompe

Jordi Díaz-Manera, Professor of Neuromuscular Disorders, Translational Medicine and Genetics Honorary Consultant in Clinical Genetics, Newcastle University

Moderator:  Richard Soll, Head of Boston Office and Senior Advisor of Strategic Initiatives, WuXi AppTec

9:10 AM

Realizing the Promise of Gene Therapy in Pompe

Barry Byrne, Professor and Associate Chair, Director, Powell Gene Therapy Center, Department of Pediatrics, University of Florida

Edward Conner, Site Lead and Division Head of Gene Therapy Medical & Development, Astellas Gene Therapies

Geoff MacKay, President & CEO, AVROBIO

Moderator: David Chang, CEO, WuXi Advanced Therapies, WuXi AppTec

9:50 AM



Hui Cai

Program Chair, VP and Head of Content, WuXi AppTec

Dr. Hui Cai joined WuXi AppTec in 2009 as Vice President of Business Development, and is currently Vice President and Head of Content Division.

Prior to WuXi, Dr. Cai spent 10 years at Johnson & Johnson Pharmaceutical Research and Development leading multiple drug discovery programs in the therapeutic areas of inflammation and autoimmune diseases. She is a co-author and co-inventor to over 50 scientific publications and issued or pending patents. Dr. Cai is a Councilor of the American Chemical Society (ACS), a member of BayHelix, and a member of the UCSD Alumni Board. In her past capacity, she served as a Commissioner at the City of San Diego Science and Technology Commission, Chair of SABPA, and President of SDCA. Dr. Cai received her BS and MS in Chemistry from Peking University, PhD from The Scripps Research Institute, and MBA from UCSD Rady School of Management as a DLA Piper – Athena Scholar.

John Crowley

Chairman & CEO, Amicus Therapeutics

John F. Crowley is our Chairman and CEO. John’s involvement with biotechnology stems from the 1998 diagnosis of two of his children with Pompe disease—a severe and often fatal neuromuscular disorder. In his drive to find a cure for them, he left his position at Bristol-Myers Squibb and became an entrepreneur as the Co-founder, President and CEO of Novazyme Pharmaceuticals, a biotech start-up conducting research on a new experimental treatment for Pompe disease (which he credits as ultimately saving his children’s lives). In 2001, Novazyme was acquired by Genzyme Corporation and John continued to play a lead role in the development of a drug for Pompe disease as Senior Vice President, Genzyme Therapeutics.

John and his family have been profiled on the front page of The Wall Street Journal and are the subjects of a book by Pulitzer prize-winning journalist Geeta Anand, “The Cure: How a Father Raised $100 Million-And Bucked the Medical Establishment-In a Quest to Save His Children.” The major motion picture, Extraordinary Measures, starring Brendan Fraser and Harrison Ford, is inspired by the Crowley family journey. John is the author of a personal memoir: Chasing Miracles: The Crowley Family Journey of Strength, Hope, and Joy.

John is also a commissioned officer in the U.S. Navy Reserve, assigned to the United States Special Operations Command and is a veteran of the global war on terrorism, with service in Afghanistan. He graduated with a B.S. in Foreign Service from Georgetown University, and earned a J.D. from the University of Notre Dame Law School and an M.B.A. from Harvard. The Crowley family was the recipient of the 2011 Family Exemplar Award from the University of Notre Dame. He is also a member of the University Council on Science & Technology at Notre Dame. Currently, John serves as a member of the Intellia Therapeutics, Inc. Board of Directors. He is the former National Chairman of the Make-A-Wish Foundation of America and is a founding Board member of the Global Genes Project. John is a Henry Crown Fellow at the Aspen Institute.

Simone Fishburn

VP & Editor in Chief, BioCentury

Simone serves as Vice President and Editor in Chief, bringing experience from both industry and academia in translational science, where she focused for over 15 years on the scientific, commercial and strategic considerations for advancing laboratory discoveries to products for patients.

Since joining BioCentury in 2013, Simone has written and edited on innovation from idea to patient, most recently serving as Executive Editor. Previously, she was a director of translational research at Nektar Therapeutics and a senior managing consultant at Exponent Inc., where she specialized in projects for the biopharma industry. Simone serves as an adviser on multiple university translational programs, including initiatives at the University of California and Stanford University. Simone is also active in programs to advance women's careers; she is a board member of Women In Bio and served as its President in 2013-14.

Simone is a Fulbright scholar and performed a post-doc at the University of California San Francisco. She holds a Ph.D. in Molecular Pharmacology from the Weizmann Institute of Science, and an M.A. and B.A. in Pharmacology from Cambridge University.

Tiffany House

Chairman & Board Member, International Pompe Association

Tiffany House is presently President, Acid Maltase Deficiency Association (AMDA), Inc., San Antonio, Texas; a non-profit organization for patients with Pompe Disease. Spearheads annual agenda, communicates with industry, current on latest advancements in treatment and patient care, and attends various scientific/patient conferences.

Patient Representative/Voting Member of Four Advisory Committees (AC), Food and Drug Administration (FDA), Washington, D.C.; serves as the “voice of the patient.” Active team member reviewing Lumizyme (Pompe treatment). Committed to email correspondence, teleconferences, and in-person meetings in D.C. Lumizyme AC Voting Member, evaluated application with recommendations, October 2008. Patient Representative Role guest speaker, FDA Patient Representative workshops, 2009 and 2010.

Patient Representative, Niemann-Pick Type C and NAGS Deficiency AC, January 2010; Patient Representative, Direct-to-Consumer Genetic Testing AC, March 2011.

Chairman/Board Member, International Pompe Association (IPA), Baarn, the Netherlands; an international Pompe patient support organization. The mission of the IPA is to “Campaign for early diagnosis and effective, affordable and safe therapies. Strive to provide information and support to all patients, their families and others with interests in Pompe Disease.” Board Member, participates in regular conference calls with Board and industry, annual meetings, and face-to-face meetings with industry and scientific/medical experts.

Tiffany received her Juris Doctorate (Suma Cum Laude) in 2011 at St. Mary’s University School of Law, San Antonio, Texas and an M.A. in English, 2007 and B.A. in English, 2005 (Thesis: Pompe’s Disease: My Experiences and the Search for a Cure) at the University of Texas at San Antonio, Texas.

Priya Kishnani

C.L. and Su Chen Professor of Pediatrics, Division Chief, Medical Genetics, Duke University Medical Center

Priya S. Kishnani, MD, is chief of the Division of Medical Genetics, Department of Pediatrics, at Duke University Medical Center in Durham, North Carolina, and director of its YT and Alice Chen Center for Genomic Research. She holds certification from the American Board of Medical Genetics and the American Board of Biochemical Genetics. She began her medical education in Bombay, India, followed by a residency and 2 fellowship programs at Duke University. Dr Kishnani’s primary focus has been the translation of laboratory science into the clinical arena.

She has a long-standing research and clinical interest in Pompe disease, and was the lead investigator for the pivotal trials of Pompe disease and responsible for the clinical translation from the bench, which led to FDA approval of Myozyme™ (2006)/Lumizyme™ (2010) as the first treatments for Pompe disease. Dr Kishnani continues to investigate the natural history of Pompe disease, uncovering several long-term complications, among them speech and swallowing dysfunction, cardiac arrhythmias, vascular involvement, sleep and gait disturbances, CNS involvement and small fiber neuropathy. She and the Duke team played an integral role in the nomination and approval for the addition of Pompe disease to the RUSP (Recommended Uniform Screening Panel) for newborn screening in the United States.

Brad Crittenden

Executive Director, Canadian Association of Pompe

Brad Crittenden is Executive Director and past president of Canadian Association of Pompe (CAP). He previously worked for 15 years doing research for major forest products companies, where he took process and product improvements from concept to implementation. He has also been a freelance web designer, working in project areas like venture capital, education, local sports and patient advocacy.
In 2006, after four years of testing, Brad was diagnosed with Pompe disease. It was a surprise but, in retrospect, not surprising as he can remember symptoms even back as a child. He sits on the Volunteer Engagement Advisory Committee for Muscular Dystrophy Canada and volunteers through the local chapter. Brad supports local charities through 100 Men Who Care, and is constantly inspired by what they do. He has served on advisory boards and in his current role looks for opportunities for CAP to partner with other organizations on common goals. Even small things can have a big impact.
Brad grew up in a small community in British Columbia enjoying the outdoors and especially the water. He now lives in the sunny Okanagan Valley of British Columbia in a small city nestled between two beautiful lakes. For many years he competed and now still coaches mixed, women’s, and 55+ dragon boat teams.

Jordi Díaz-Manera

Professor of Neuromuscular Disorders, Translational Medicine and Genetics Honorary Consultant in Clinical Genetics, Newcastle University

Professor Jordi Díaz-Manera joined Newcastle University in 2020 where he is working as Professor of Neuromuscular Disorders and as Honorary Consultant Clinical Geneticist with the Newcastle Hospitals NHS Foundation Trust.
Jordi trained as an adult neurologist at the Hospital de la Santa Creu I Sant Pau (HSCSP) in Barcelona from 2001 to 2005. In 2006 he was appointed as Clinical Associate by the Neurology Department of HSCSP. He spent two years as a fellow in the laboratory of Giulio Cossu at the Stem Cell Research Institute of the Ospedalle San Rafaelle in Milano (Italy). His PhD was focused on the development of new diagnostic tools and therapies for Dysferlin Muscular dystrophy.
Jordi has a long-standing experience in translational clinical and basic research. His current clinical research projects are focused on the characterization of large cohort of patients with muscular dystrophies, the implementation of quantitative muscle MRI for the diagnosis and follow-up of patients with muscular diseases and the development of new outcome measures for clinical trials and natural history studies.
His basic research interest focuses on the process of muscle fiber degeneration and the replacement of muscle tissue by fat and fibrosis that takes place in patients with muscular dystrophies. He is especially interested in translating outcomes from cell biology experiments to the development of new therapies, and test them in preclinical animal models of muscular dystrophies.
Jordi was the Coordinator of the Spanish Neuromuscular Research Group from 2012 to 2014 and member of the Executive Committee of the Catalan Society of Neurology from 2017 to 2019.

Richard Soll

Head of Boston Office and Senior Advisor of Strategic Initiatives, WuXi AppTec

Dr. Richard Soll is presently Senior Advisor, Strategic Initiatives for the Research Service Division at WuXi AppTec and Head of the WuXi office in Boston, Massachusetts. He has held various leadership roles at WuXi as Senior Vice President including head of the medicinal chemistry unit known as the International Discovery Service Unit, business development, and corporate alliances.

Dr. Soll’s contributions led to the discovery of the HCV NS5A inhibitor elbasvir (a component of Zepatier®) in the Merck-WuXi partnership, the JAK2 inhibitor fedratinib at TargeGen which formed the basis of the $7B partnership between Celgene and Impact Biomedicines, and more than 10 other clinical stage drugs throughout his career.

Dr. Soll is currently a board member at Simcha Therapeutics, an board observer at the Accelerator Life Science Parnters, and an advisory board member with the Blavatnik Center for Drug Discovery at Tel Aviv University, the Children’s Tumor Foundation, and the Pistoia Alliance.

Dr. Soll was CSO / VP of R&D at TargeGen and was VP of Chemistry at 3-Dimensional Pharmaceuticals. He started his career at Ayerst Research Labs and was trained as a synthetic chemist at Dartmouth and Harvard.

Barry Byrne

Professor and Associate Chair, Director, Powell Gene Therapy Center, Department of Pediatrics, University of Florida

Dr. Barry Byrne is a clinician scientist who is studying a variety of rare diseases with the specific goal of developing therapies for inherited muscle disease. As a pediatric cardiologist, his focus is on conditions that lead to skeletal muscle weakness and abnormalities in heart and respiratory function.
His group has made significant contributions to the understanding and treatment of Pompe disease, a type of neuromuscular disease due to glycogen storage in motor units. The research team has been developing new therapies using AAV-mediated gene therapy to restore cardiac and skeletal muscle function in DMD, Friedreich’s ataxia, Pompe, and other inherited neuromuscular diseases. His group at the Powell Center has also established a series of new methods for large-scale AAV clinical manufacturing.
Dr. Byrne is the Associate Chair of Pediatrics and Director of the University of Florida Powell Center and Child Health Research Institute. He obtained his B.S. degree from Denison University; M.D. and Ph.D. from the University of Illinois; and he completed his Pediatrics residency and cardiology fellowship as well as post-doctoral training in Biological Chemistry at the Johns Hopkins Hospital. Following his early career at Hopkins, he joined the University of Florida and is now the Earl and Christy Powell University Chair in Genetics.
In addition to his academic appointments, he serves as the Chief Medical Advisor of the Muscular Dystrophy Association and a member of the TACT committee of TREAT-NMD. He is an advisor to the Pfizer Rare Disease Therapeutic Area Advisory Committee and co-founder of AavantiBio.

Edward Conner

Site Lead and Division Head of Gene Therapy Medical & Development, Astellas Gene Therapies

Edward Conner, M.D. is Astellas Gene Therapies Site Lead and Division Head of Gene Therapy Medical & Development and is responsible for leading the global clinical development strategy for Astellas Gene Therapies. He oversees clinical development, clinical operations, regulatory affairs, medical affairs, and patient advocacy. Dr. Conner brings more than 10 years of industry leadership experience in early and late-stage clinical development across a broad range of disease areas, including rare diseases.
Dr. Conner joined Astellas Gene Therapies (formerly Audentes Therapeutics) from Sangamo Therapeutics, Inc. where he served as Senior Vice President and Chief Medical Officer and led the clinical development of the company’s pipeline of genomic therapies. Prior to Sangamo, Ed served as Vice President, Global Clinical Development at Ultragenyx Pharmaceutical Inc. where he led the global clinical development efforts for two of the company’s rare disease product candidates. Previously, Ed served as Senior Medical Director at BioMarin Pharmaceutical Inc. where he led clinical development and regulatory interactions for its global Phase 3 program in Pompe disease, and earlier in his career Dr. Conner served as Medical Director at Genentech, Inc. where he was the clinical science team leader of two product candidates, including XOLAIR®.
Dr. Conner completed his Internal Medicine residency training at the University of Michigan and was a fellow in Clinical Immunology and Allergic Diseases at Johns Hopkins School of Medicine. He earned a B.S. in Biology, cum laude, from Duke University and his M.D. from the University of California, San Francisco.

Geoff MacKay

President & CEO, AVROBIO

Geoff MacKay is President and CEO of AVROBIO, Inc, a clinical stage gene therapy company focused in rare disease.
Geoff was founding CEO of eGenesis Inc., which applies CRISPR-Cas 9 gene editing to the field of xenotransplantation.
Mr. MacKay spent 11 years as President and Chief Executive Officer at Organogenesis Inc., building the company into the leading cell-based therapy company in the world as measured by FDA approvals, patients treated and revenue.
Mr. MacKay held numerous leadership positions within Novartis AG, such as Vice-President and Business Unit Head, Transplantation and Immunology at Novartis Canada, Vice-President, Tissue-Engineering in Novartis USA, Head of Global Sales Immunology and Transplantation based in Basel, Switzerland, and Sales and Marketing Manager of Novartis Biotech Europe.
Mr. MacKay has served as Chairman of the Board of the Alliance for Regenerative Medicine (ARM), a Washington DC-based multi-stakeholder advocacy group whose mission is to advance the field of regenerative medicine. Mr. MacKay also served as Chairman of the Board of MassBio as well as multiple biotech company directorships.
Additionally, he was an Advisory Council member for the Health Policy Commission (HPC) for the Commonwealth of Massachusetts, a state agency focused on health policy reform to reduce overall cost growth while improving patient outcomes.
Through his public and private enterprise work, Mr. MacKay is dedicated to applying innovation to reshape and improve the quality of healthcare.

David Chang

CEO, WuXi Advanced Therapies, WuXi AppTec

Dr. David Chang has 30-year industrial experience, and is currently the CEO of Wuxi AppTec Advanced Therapies Business Unit located in Philadelphia, PA. Prior to current role, he was Corporate VP and Head of Cell Therapy Global Manufacturing, of Celgene Corporation; the Global Head of Engineering and Strategy at Roche based in Basel, Switzerland; the VP/Site Head of Roche Shanghai Technical Operations in China. Earlier in his career Dr. David Chang worked at Genentech as the Senior Director of Global Manufacturing Science and Technology, and as the Director of Process Development in its Oceanside, CA site. He was also formerly at Biogen Idec as Director of cell culture R&D, at BASF Bioresearch as a cell culture group leader, and at Schering-Plough Research Institute as a process development engineer.

Dr. David Chang obtained his Bachelor’s degree in Chemical Engineering from National Taiwan University in Taiwan, and the Master’s and PhD degrees in Biochemcial Engineering from MIT in Massachusetts, USA.

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