Written by Maria El Bizri, Knowledge and Community Mobilization Officer, Loeys-Dietz Syndrome Foundation Canada
Rare diseases often face a common challenge: a lack of coordinated data. For children and families living with heritable thoracic aortic diseases (HTAD), including Loeys-Dietz syndrome, Marfan syndrome, vascular Ehlers-Danlos syndrome, and other rare connective tissue disorders, this gap has limited research, clinical decision-making, and the development of evidence-based care.
To address this need, Loeys-Dietz Syndrome Foundation Canada (LDSFC) partnered with the Canadian Congenital and Pediatric Cardiology Research Network (CCPCRN), leading clinicians, researchers, geneticists, and patient partners from across the country to create the CANadian Aortopathy and Connective Tissue Disorders (CAN-ACT) Registry, the first pediatric registry of its kind in Canada dedicated to HTAD. Under the leadership of co-Chairs Dr. Tíscar Cavallé-Garrido (RARE.Qc member) and Dr. Tim Bradley, CAN-ACT has established a national collaborative network dedicated to advancing research and improving care for individuals living with heritable thoracic aortic diseases.
With financial and in-kind support from the Foundation over four years and beyond, CAN-ACT is creating a secure, ethically governed national database that collects genetic, clinical, imaging, and patient-reported information from children and youth affected by these rare conditions.
The impact is already visible. CAN-ACT has brought together a national network of 17 researchers, 5 geneticists, and patient partners working collaboratively across Canada. As of May 2026, 222 patients have been enrolled across 18 sites, creating one of the largest coordinated datasets on pediatric heritable aortopathies in the country. The registry’s website and educational resources have also increased public awareness and supported participant engagement.
Photo : From left to right: Dr. Tíscar Cavallé-Garrido (co-Chair) (RARE.Qc member), Dr. Gregor Andelfinger (co-investigator) (RARE.Qc member), Joseph Galli (patient partner), Dr. Frédéric Dallaire (co-investigator) (RARE.Qc member), Jida El Hajjar (co-investigator) (RARE.Qc partner member), Dr. Tim Bradley (co-Chair).
Looking ahead, CAN-ACT aims to enroll 500 pediatric participants during its first year, creating the largest Canadian datasets on heritable thoracic aortic diseases. The next phase of the initiative will expand enrollment to include adult patients and further develop its national consortium of research projects. By integrating pediatric and adult populations, the registry will enable researchers to study lifelong disease trajectories, support multicentre investigator-initiated studies, foster trainee-led research, and generate the evidence needed to improve care for individuals living with heritable thoracic aortic diseases across Canada.
As RARE.Qc continues to build a connected rare disease research ecosystem in Quebec and beyond, initiatives such as CAN-ACT demonstrate the power of partnership-driven, patient-oriented research to address longstanding knowledge gaps and create lasting impact for rare disease communities.
To learn more about the Loeys-Dietz Syndrome Foundation Canada, please visit their website , the CAN-ACT website, or contact them at info@loeysdietzcanada.org
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