Webinar overview + objectives:
Therapies for rare diseases are emerging at a rapid pace yet rigorous evidence regarding their safety, efficacy, and effectiveness in practice is often sparse and is difficult to generate. High quality longitudinal patient registries may help to address this evidence gap. In this webinar, we will:
Describe the challenges in generating high quality evidence about treatments for rare diseases;
Summarize some of the strategies proposed to address these challenges, emphasizing the potential value of patient registries;
Describe the features of registry-based randomized clinical trials and discuss the scientific and practical challenges associated with such trials; and
Summarize current guidance and emerging developments in designing and improving rare disease registries to support clinical trials.
Meet the speakers!
Pranesh Chakraborty is the Chief/Chair of the Department of Pediatrics at the Children’s Hospital of Eastern Ontario (CHEO) and the University of Ottawa, where he is also a Full Professor. He is a physician certified by the Royal College in medical biochemistry and pediatrics, with a subspecialty in biochemical genetics. Dr. Chakraborty joined CHEO in 2003 as a clinician for patients with inherited metabolic diseases. In 2006, he led the establishment of Newborn Screening Ontario at CHEO and he was its Medical and Laboratory Director until taking on the Chief/Chair of Pediatrics role in 2023. Dr. Chakraborty’s research interest focuses on inherited metabolic diseases and newborn screening. He is involved in team research in newborn screening policy, the development of novel laboratory diagnostic and screening methods, translational metabolomics and disease pathophysiology research, as well as patient registries and observational outcome research.
Beth Potter is a Professor of Epidemiology and Public Health and University Research Chair in Health Services for Children with Rare Diseases at the University of Ottawa; and an Affiliate Investigator at the Children’s Hospital of Eastern Ontario Research Institute. Dr. Potter completed her PhD in Epidemiology at the University of Western Ontario in 2003 and joined the University of Ottawa as a faculty member in 2007. Her research aims to produce evidence to improve health care and outcomes for children with rare genetic diseases, particularly inherited metabolic diseases. Dr. Potter is Principal Investigator for INFORM RARE (www.informrare.ca), a Canadian CIHR-funded clinical trials network that brings together patients and their family members, clinical providers, methodologists, and policy makers to focus on research questions prioritized by those who make decisions about rare disease care.