The first AMDA Patient Conference was held in San Antonio, Texas on September 28-30, 2001. It was attended by approximately 100 participants from around the world. The agenda included presentations from doctors directly involved in current clinical trials for Acid Maltase Deficiency, Pompe’s disease, throughout the world.
Current Clinical Trials
There are 7 patients ( 4 infantile, 3 juvenile ) in the original Rotterdam, Netherlands trials. These patients began therapy in January 1999 ( infantile) and in June 1999 (juvenile) and continue to receive enzyme produced from the milk of transgenic rabbits.
There are 5 infantile patients on the CHO derived enzyme at Duke University, 3 from the original trial that began in June 1999, and 2 additional infants that have recently started treatment.
There are 4 infantile patients in Essen, Germany, 2 transgenic patients, 2 CHO patients. There is 1 infantile patient in Lyon, France receiving CHO enzyme.
Randall H. House, President of AMDA, opened the conference with a welcoming address on Saturday morning. The day was jam-packed with phenomenal presentations by scientists/ physicians and informative discourses by corporate leaders.
John Hopwood, M.D. (Head-Lysosomal Diseases Research Unit, Women’s and Children’s Hospital, North Adelaide,Australia) was the conference moderator.
Arnold J.J. Reuser, Ph.D. ( Associate Professor of Cell Biology, Department of Clinical Genetics, Erasmus University, Rotterdam, the Netherlands) launched the conference with an information presentation entitled “Overview of Developments in Pompe’s Disease”.
This was succeeded with an astounding presentation by Ans T. van der Ploeg, M.D., Ph.D. (Department of Neonatology, Sophia Children’s Hospital, Rotterdam, the Netherlands) on the progression of the infantile patients in the transgenic trial.
Andrea Amalfitano, D.O., Ph.D. (Assistant professor Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA) followed with an equally astonishing presentation on the progression of the infantile patients in the original CHO trial at Duke.
Dr. van der Ploeg’s second presentation on juvenile patients was equally as enthralling as her presentation on infantile patients. She showed a video of a young juvenile patient that was wheelchair bound for 3 years who is now able to walk, run, and play soccer.
After the above presentations, the 4 presenters formed a panel and answered questions from the audience.
The afternoon session was lead off with a marathon (1 1/2 hour session) by Jan van Heek, M.B.A., Ph.D. (Vice President Genzyme Corporation) and John Crowley, J.D., M.B.A. (President/CEO, Novazyme Pharmaceuticals, Inc.). Topics covered production timelines, continuation of existing trials, initiation of expanded clinical trials, large scale availability of enzyme, cost of treatment, enzyme availability for compassionate use situations, and a many more questions from the audience.
This was followed by a presentation from Tan Nguyen, M.D., Ph.D. (Medical Officer, Office of Orphan Products Development, Food and Drug Administration , Rockville, Maryland, USA). His presentation encompassed the role of the US-FDA in the approval process of orphan drugs.
Tiffany House, the first juvenile patient in the world to receive treatment, gave a presentation on the experiences of a patient in the clinical trials, the ERT infusion process, the testing procedures, safety and efficacy from a patient’s perspective, and the improvement of life experienced with ERT treatment.
The opening speaker was Andrea Amalfitano, D.O., Ph.D. (Assistant Professor Medical Genetics, Duke University Medical Center, Durham, North Carolina, USA). His talk was entitled,” Progress on Gene Therapy for Acid Maltase Deficiency—Obstacles and Advantages”.
Nina Raben, M.D., Ph.D. (National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, NIH, Bethesda, Maryland, USA) gave a presentation on the NIH’s work with the knockout mouse models for Pompe’s disease. Her research has been geared both towards enzyme and gene replacement therapy. She emphasized that the role of the NIH as an unbiased party in research into Pompe’s disease. The NIH has generated significant research in this field and has shared this information with all parties working on a therapy for this disease.
John Hopwood, M.D., (Head, Lysosomal Disease Research Unit, Women’s and Children’s Hospital, North Adelaide, Australia) gave a presentation on the diagnostic procedure in development under his supervision in Australia. The non-invasive blood analysis method is being pursued as a newborn screening method to diagnose all lysosomal disorders of which Pompe’s disease is one.
Kevin O’Donnell, Ph.D. (Association for Glycogen Storage Disease-United Kingdom, AGSD-UK) gave a presentation on the role of patient organizations and unified patient-group involvement in the battle for a treatment/cure for Acid Maltase Deficiency, Pompe’s disease.