CAN-ACT Registry Grant Proposal

The Cause

Despite advancements in understanding Heritable Thoracic Aortic Diseases (HTAD), significant gaps remain in public and healthcare professionals' awareness and education about their physical and genotypic manifestations. These gaps have led to delayed diagnoses, misdiagnoses, and inadequate support for affected patients and families. A delay in diagnosis not only diminishes the quality of life for these individuals but also postpones the initiation of therapies and lifestyle modifications that could prevent the progression of aortic aneurysms, which are ultimately life-threatening.

Currently, there is limited data on the phenotypic and genotypic presentation of pediatric patients with hereditary aortic diseases in Canada. Through our assessment of the needs within the Heritable Aortic Disorders (HAD) community, we recognize the crucial need for a patient registry that serves as a centralized database. Under the leadership of Dr. Tiscar Cavallé-Garrido, Dr. Tim Bradley, Dr. Gregor Andelfinger, and Dr. Frederic Dallaire, the Loeys-Dietz Syndrome Foundation Canada (LDSF Canada) has established a long-term partnership with the Canadian Congenital and Pediatric Cardiology Research Network (CCPCRN) to develop the CANadian Aortopathy and Connective Tissue Disorders (CAN-ACT) Registry. As of May 2024, clinicians from research sites across Canada, who are already members of the CCPCRN and are involved in the care of pediatric patients with hereditary aortopathies, have committed to joining our study team as Co-Investigators to contribute to the CAN-ACT Registry (see Table 1). This initiative represents the first truly pan-Canadian multidisciplinary team for hereditary aortopathies, bringing together highly complementary expertise in areas such as gene identification, epidemiology, clinical management, and imaging.

The study team aims to achieve the following objectives: 1) identify and describe the Canadian patient population with a confirmed diagnosis of hereditary aortopathies; 2) gather detailed information on the epidemiology, phenotypic and genotypic presentations, and care delivery models currently available in Canada; and 3) engage clinicians, researchers, and patients across Canadian institutions to foster future research collaborations.

Who Will it Benefit?

The CAN-ACT Registry project aims to address significant gaps in the understanding, diagnosis, and management of Heritable Thoracic Aortic Diseases (HTAD) in Canada. Despite advancements in the study of HTAD, there remain challenges related to delayed diagnoses, misdiagnoses, and inadequate support systems for patients and families affected by these conditions. HTAD, including Marfan Syndrome (MFS), Loeys-Dietz Syndrome (LDS), and other syndromic and non-syndromic aortopathies, present unique challenges due to their phenotypic and genotypic diversity, which complicates diagnosis and management.
The primary beneficiaries of this project are HTAD patients and their families. By creating a centralized patient registry, the CAN-ACT Registry will enable earlier diagnosis, more personalized treatment, and improved long-term outcomes for patients. Delayed diagnosis of HTAD often results in a reduced quality of life and increases the risk of life-threatening conditions like aortic aneurysms. With earlier identification, patients will be able to receive the appropriate therapies and lifestyle recommendations, which are crucial for preventing disease progression.
The project will also benefit healthcare providers, especially clinicians working in cardiology, genetics, and related specialties. The registry will provide comprehensive data on the epidemiology, phenotypic and genotypic characteristics, and clinical outcomes of HTAD patients across Canada. This information will improve clinicians’ ability to diagnose and manage these conditions, especially in resource-limited areas where specialized care may not be readily available. By identifying regional disparities in care, the registry can help create a more uniform care delivery model, ensuring equitable access to high-quality care for all HTAD patients in Canada.
Researchers will significantly benefit from the CAN-ACT Registry as it will serve as a valuable resource for conducting further studies on HTAD. It will provide epidemiological data, insights into care delivery models, and detailed information on the attention needed to improve care for patients today and in the future.