Connect-HCTD

This research program is organized around three complementary objectives.

Objective 1
Understanding clinical guidance

The first phase consists of a systematic review of international clinical practice guidelines for Marfan syndrome, Loeys-Dietz syndrome and Ehlers-Danlos syndromes.

This review aims to:

• identify existing recommendations for diagnosis, treatment and symptom management;
• evaluate the methodological quality of available clinical guidelines;
• examine patient involvement in guideline development;
• identify important evidence gaps that may limit high-quality care.

Consult here the complete database on clinical recommendations: https://airtable.com/app3S29kg3K6e7DLw/shrkCQX1WXWTV8Mdu

Objective 2
Understanding the lifecourse of people living with a hereditary connective tissue disorder

Through narrative interviews and life-course mapping, this project seeks to understand how living with a hereditary connective tissue disorder unfolds across time.

The research explores:

• how symptoms appear, evolve and are managed throughout life;
• how healthcare experiences interact with education, work, family life, relationships and other life domains;
• how barriers to care emerge and change across different stages of life.

Rather than studying healthcare alone, this project examines the broader life journey of people living with these conditions.

If you are an adult patient who received healthcare in Canada with a diagnosis of Loeys-Dietz, Marfan, or Ehlers-Danlos syndrome, we are currently recruiting: https://redcap.link/thtc

Objective 3
Identifying opportunities to improve care

Building on participants’ life-course maps, the final phase aims to identify where healthcare systems can better support people living with hereditary connective tissue disorders.

More specifically, the project seeks to:

• identify unmet needs throughout the life course;
• understand where patients encounter obstacles within the healthcare system;
• identify strategies that could reduce these barriers;
• determine the most appropriate moments across the life course for interventions and support.

Ultimately, the goal is to contribute to more coordinated, patient-partenered evidence-informed care, that will lead to an app acting like a roadmap to navigate the life with the condition and to access resources timely.