The National Organization for Rare Disorders (NORD) announced the launch of two Canadian patient registries within its IAMRARE® Program, in partnership with the Children’s Hospital of Eastern Ontario (CHEO) Research Institute, INFORM RARE, the Canadian MPS Society, and Canadian PKU and Allied Disorders Inc. (CanPKU+).
Before today, no public patient registries existed in Canada for phenylketonuria (PKU) or mucopolysaccharidoses (MPS), which are both rare, inherited metabolic disorders that can result in developmental challenges and neurological disabilities.
Co-developed by Canadian patient advocacy groups, researchers at CHEO, and clinicians at the front lines of care, these patient registries represent a first-of-its-kind research collaborative within the NORD IAMRARE® Program, allowing for cooperative data collection and real-time analysis to accelerate research on these conditions.
These are the first registries in the NORD IAMRARE® Program to be based outside of the United States. They are also the first to be presented in multiple languages, English and French, and to support parental consent requirements that can vary across provinces—critical parameters for the Canadian rare disease population. They join more than 60 registries on the platform with more than 18,000 enrolled patients, many of which have international patient participation.
“We are thrilled by the launch of these registries, which will move us forward in our mission to support families and professionals dealing with PKU and similar, rare, inherited metabolic disorders,” said John Adams, Co-Founder, President & CEO of Canadian PKU and Allied Disorders Inc. “This incredible advancement in data collection capabilities, functioning in both official languages and hosted on Canadian servers, is a significant step towards better understanding rare diseases and how they change over time for different patients.”
“Rare disease research succeeds when as many patients as possible can participate, and we know that one-size patient registries do not fit all,” said NORD CEO, Pamela K. Gavin. “Patient registries need to account for the diversity of patient backgrounds and experiences as well as the diversity of regulations and requirements that must be met to ensure participation of both patients and researchers.”
“This registry represents a crucial advancement in our efforts to understand and support individuals with MPS disorders, said Kim Angel, Executive Director of the Canadian MPS Society. “By consolidating data from across Canada, the registry will provide invaluable insights into the prevalence, progression, and management of MPS in pediatric patients. This initiative underscores our commitment to improving the lives of those affected by MPS and will serve as a cornerstone for future research and therapeutic developments.”
This news comes at an important time for rare disease research in Canada. Recognizing the need for approved treatments for the 95% of rare diseases that currently lack them, the Canadian government has committed $1.5B over five years as part of its National Strategy for Drugs for Rare Diseases. Some of this funding is intended to advance development of gene therapies for rare diseases. By collecting clinician-informed data on patients’ long-term health, each of these registries will help researchers understand the effectiveness of existing treatments on the market and identify participants who may be eligible for clinical trials, making it more feasible for new treatments to be tested in Canada.
“To have rare disease drugs approved in Canada, we need to have Canadian clinical trials—these types of registries are critical to that process,” said Dr. Pranesh Chakraborty, Investigator at the CHEO Research Institute (CHEO RI) and Principal Investigator at INFORM RARE. “If companies can see how many people in Canada are impacted by a rare disease, it strengthens the case to bring important clinical trials to Canada.”
Anyone age 18 or younger with a diagnosis who is receiving care in Canada is eligible to enroll in these registries with the assistance of a guardian.
To learn more and/or enroll in the Canadian MPS Registry, visit mpsregistry.ca.
To learn more and/or enroll in the Canadian PKU Registry, visit pkuregistry.ca.
About NORD’s IAMRARE® Program
The NORD IAMRARE® Program is celebrating its 10th anniversary this year. The first natural history study platform for rare diseases, IAMRARE was launched with a vision to leverage patient-provided data to drive treatments for the more than 10,000 known rare diseases. It was the first program of its kind to partner with the U.S. Food & Drug Administration (FDA) and has been trusted by researchers and patient advocacy organizations for the past decade. Currently, there are more than 18,000 participants enrolled in over 50 natural history studies, representing more than 75 unique rare diseases. To learn more, visit iamrare.org.
