Rare Disease Registries: Pioneering Real World Evidence and a Continued Commitment to the Rare Disease Community

Description:
The Sanofi Genzyme Rare Disease Registries have been pioneers in real-world evidence generation for 30 years, starting with the Gaucher Registry in 1991 and following with the Fabry, Mucopolysaccharidosis type I and Pompe Registries. Prior to the advent of these Registries, there was very limited understanding of the natural history of these rare lysosomal storage diseases. While individual treaters across these rare diseases had gained clinical experience, there was no clear framework for data dissemination. The establishment of the Registries helped to improve patient care by expanding the understanding of the diseases’ natural histories, regional disease patterns, long-term treatment outcomes and clinical practice similarities/differences, and helped to inform the development of monitoring and treatment guidelines. Registries also complement clinical trials by providing the research infrastructure needed to aggregate longitudinal real-world data (RWD).

During this session, Professors Mistry, Kishnani and Wanner will discuss their involvement with the Registries and the most important lessons they have learned from this experience. Clinical care of patients before the Registries, as well as the main features of the Registries, highlighting the community that they create, will be addressed. Benefits to the medical community with learnings from the over 90 publications using RWD from the Registries will also be discussed, along with contributions to treatment and monitoring guidelines, and understanding long-term treatment outcomes. The experts will share how their participation in the Registries has impacted the clinical care of their patients, and the impact on patients and their families and healthcare policy. Finally, future perspectives and the key unmet needs that the Registries may collaborate on in the future will be explored.

Supported by Sanofi Genzyme.

Presentations in this session

Introduction and Welcome
Pramod K. Mistry.
Yale University School of Medicine, CT, USA.

Panel Discussion- Rare Disease Registries: Pioneering Real World Evidence and a Continued Commitment to the Rare Disease Community
Pramod K. Mistry.
Yale University School of Medicine, CT, USA.

Panel Discussion-Rare Disease Registries: Pioneering Real World Evidence and a Continued Commitment to the Rare Disease Community
Priya Kishnani.
Duke University Medical Center Durham, NC, USA.

Panel Discussion- Rare Disease Registries: Pioneering Real World Evidence and a Continued Commitment to the Rare Disease Community
Christoph Wanner.
University Hospital Würzburg, Germany.

Live Q&A

Faculty

Pramod Mistry
Pramod K. Mistry.
Yale University School of Medicine, CT, USA.

Dr Pram Mistry is Professor of Medicine, Pediatrics and Cellular & Molecular Physiology at Yale School of Medicine. He is the Director of Yale’s National Gaucher Disease Treatment Center. His lab is focused on clinical translational research in Gaucher disease that includes patient-centered research, treatment outcomes, mouse models, genomics, biomarker discovery, and understanding the role of glycosphingolipids in immune dysregulation and cancer. Dr Mistry is the Chair of Project Hope Humanitarian program for Gaucher disease, serves on the medical advisory board of the National Gaucher Foundation and he is regional coordinator of the ICGG Registry.


Priya Kishnani
Priya Kishnani.
Duke University Medical Center Durham, NC, USA.

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.


Christoph Wanner
Christoph Wanner.
University Hospital Würzburg, Germany.

Christoph Wanner, M.D., is Professor of Medicine and Chief of the Division of Nephrology and Hypertension at the University Hospital of Würzburg, Germany and leading the Fabry Center of Interdisciplinary Therapy (FAZIT). Dr. Wanner’s areas of interest are metabolism and cardiovascular outcomes in patients with rare and common diseases.

He has published more than 750 pubmed referenced scientific articles of whom more than 120 are Fabry disease related. He has a Fabry Registry advisor since its inception and authored pioneering disease and therapy outcomes manuscripts originated in the Fabry Registry. He has been an Editor of the Journal of Renal Nutrition and Associate Editor of the Clinical Journal of the America Society of Nephrology.

Dr. Wanner received two prominent Awards; in 2016 for Outstanding Clinical Contributions to Nephrology from the ERA-EDTA and in 2018 the Franz Volhard medaille from the German Society of Nephrology. He received a doctor honoris causa from the Charles University Prague in 2012 and is currently President of the ERA-EDTA.