Collection of Blood and Urine Samples to Study Marfan Syndrome and Related Conditions to Understand Disease Progression

What this Trial Is About

Researchers are collecting biological samples from patients with Marfan syndrome or related syndromes to support research focused on understanding the diseases effects and progression. Marfan syndrome is a genetic condition that affects the eyes, heart, and skeleton, and is also linked to reduced muscle and fat mass and lower exercise endurance, which can impact quality of life. This observational study aims to gather and store these samples confidentially to help advance future studies on the conditions multisystem effects and to identify factors predicting disease severity. Participants include children aged 3 years and older, as well as adults with Marfan syndrome or related syndromes. During their regular clinic visits, extra blood and urine samples will be collected and stored with consent for research use. This biological collection will enable researchers to quickly access samples as new questions arise in Marfan syndrome research. Participants will be involved during their routine follow-up visits at the Rare Diseases Reference Centre. Samples are collected at enrollment and during these visits to build a comprehensive biological resource. Data confidentiality and patient consent are emphasized. The primary outcome is establishing this biological collection, which will facilitate ongoing and future research into the diseases pathophysiology and progression. The study is sponsored by the University Hospital, Toulouse, and participation spans from enrollment through sample collection at visits.

Biological Collection for Marfan and Related Syndromes