Biological Collection for Marfan and Related Syndromes (MARFANS)

Constitution of a Biological Collection to Study the Pathophysiology in Marfan Syndrome and Related Syndromes and to Identify Predictive Factors of Disease Progression

The present study will establish a collection of biological samples from Marfan patients or with associated diseases to be used for research purposes only, with due respect for confidentiality.

Study Overview

• Status: Recruiting
• Conditions: Marfan Syndrome
• Intervention / Treatment: Biological: collection of samples of blood and urine

Detailed Description

Marfan syndrome is an autosomal dominant disease (incidence 1/5000) characterized by ocular, cardiac and skeletal abnormalities. More recently, a decrease in fat and muscle mass has been demonstrated, associated with a decrease in exercise endurance, causing a significant deterioration in the quality of life. Little is known about the pathophysiology of these symptoms. Patients with Marfan syndrome or related diseases are followed at the children's hospital as part of the Rare Diseases Reference Centre (CRMR) for Marfan syndrome at the Toulouse University Hospital. During regular check-up visits, an extra sample of blood and urine will be collected and stored for research utilisation with the patient's consent. The ultimate objective of this collection is to provide available biological resources to facilitate the development of subsequent studies aimed at better characterizing the multisystemic disorders in Marfan syndrome, to understand the pathophysiology of the disease, and to identify biological factors that predict the severity and progression of the disease. The possibility of having systematically collected biological resources will make it possible to answer certain questions more quickly depending on the progress of research.

• Study Type: Observational
• Enrollment (Estimated): 300

Contacts and Locations

• Study Contact: Name: Thomas Edouard, MD, PhD; Phone Number: 0033 5 34 55 85 55; Email: edouard.t@chu-toulouse.fr
• Study Contact Backup: Name: Françoise Auriol, PhD; Phone Number: 0033 5 67 77 10 95; Email: auriol.f@chu-toulouse.fr

Study Locations

• France
  • Toulouse, France, 31059
    • Recruiting
    • Purpan University Hospital
    • Contact: Thomas Edouard, MD, PhD; Phone Number: 0033 5 34 55 85 55; Email: edouard.t@chu-toulouse.fr
    • Contact: Françoise Auriol, PhD; Phone Number: 0033 5 67 77 10 95; Email: auriol.f@chu-toulouse.fr

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 3 years to 99 years (Child, Adult, Older Adult)
• Accepts Healthy Volunteers: No

• Sampling Method: Non-Probability Sample

Study Population

Patients followed at the Rare Diseases Reference Centre (CRMR) for Marfan syndrome at the Toulouse University Hospital.

Description

Inclusion Criteria:

• Children aged at least 3 years old or adult with Marfan syndrome or related syndromes
• Patients affiliated to or beneficiaries of a social security scheme
• Patients able to receive information on the progress of the study and understand the information form to participate in the study. That implies to master the French language and not to be subject to a restriction of rights by the judicial authorities
• Patients or legal representative who have given their consent to participate in the study (expression of no objection)

Exclusion Criteria:

• Patients subject to a legal protection measure (guardianship, curators, or safeguard of justice)
• Pregnant or breastfeeding women

Study Plan

How is the study designed?

Design Details

• Observational Models: Cohort
• Time Perspectives: Prospective

Number of groups / cohorts

1

Cohorts and Interventions

Group / Cohort	Intervention / Treatment
Patients with Marfan syndrome or related syndromes; Children aged at least 3 years old or adult with Marfan syndrome or related syndromes	Biological: collection of samples of blood and urine; extra samples of blood and urine will be collected and stored for research utilisation

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Constitution of a biological collection from patients with Marfan or related syndromes.	extra sample of blood and urine will be collected	Day 0
Constitution of a biological collection from patients with Marfan or related syndromes. Collection of samples at inclusion.	extra sample of blood and urine will be collected	during the intervention/procedure/surgery

Collaborators and Investigators

• Sponsor: University Hospital, Toulouse
• Investigators: Principal Investigator: Thomas Edouard, MD, University Hospital, Toulouse

Study record dates

Study Major Dates

• Study Start (Actual): January 24, 2022
• Primary Completion (Estimated): August 7, 2026
• Study Completion (Estimated): August 7, 2031

Study Registration Dates

• First Submitted: July 9, 2021
• First Submitted That Met QC Criteria: July 20, 2021
• First Posted (Actual): July 21, 2021

Study Record Updates

• Last Update Posted (Actual): March 29, 2024
• Last Update Submitted That Met QC Criteria: March 28, 2024
• Last Verified: March 1, 2024

More Information

Terms related to this study

• Keywords: Marfan syndrome; Biological collection; Marfan associated syndromes
• Additional Relevant MeSH Terms: Pathologic Processes; Heart Diseases; Cardiovascular Diseases; Disease; Congenital Abnormalities; Genetic Diseases, Inborn; Musculoskeletal Diseases; Connective Tissue Diseases; Bone Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Musculoskeletal Abnormalities; Abnormalities, Multiple; Bone Diseases, Developmental; Limb Deformities, Congenital; Syndrome; Marfan Syndrome; Arachnodactyly
• Other Study ID Numbers: RC31/21/0178

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: NO

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No