Biological Collection for Marfan and Related Syndromes

NCT04970459 | Recruiting

• 1 other identifier: RC31/21/0178
• Study Type: observational
• Target: 300
• Locations: 1 country
• Sites: 1

Brief Summary

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.

Conditions

Marfan Syndrome

Keywords

Biological collection; Marfan syndrome; Marfan associated syndromes

Outcome Measures

Primary Outcomes (2)

• 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

Study Arms (1)

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

Interventions

collection of samples of blood and urine BIOLOGICAL

extra samples of blood and urine will be collected and stored for research utilisation

Patients with Marfan syndrome or related syndromes

Eligibility Criteria

• Age: 3 Years - 99 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Child (0-17), Adult (18-64), Older Adult (65+)
• Sampling Method: Non-Probability Sample

Study Population

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

You may qualify if:

• 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)

You may not qualify if:

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

Sponsors & Collaborators

• University Hospital, Toulouse: lead

Study Sites (1)

Purpan University Hospital

Toulouse, 31059, France

RECRUITING

Biospecimen

Retention: SAMPLES WITH DNA

extra sample of blood and urine

MeSH Terms

Conditions

Marfan Syndrome

Interventions

Urination

Condition Hierarchy (Ancestors)

Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Connective Tissue Diseases; Skin and Connective Tissue Diseases

Intervention Hierarchy (Ancestors)

Urinary Tract Physiological Phenomena; Reproductive and Urinary Physiological Phenomena

Study Officials

• Thomas Edouard, MD

  University Hospital, Toulouse

  PRINCIPAL INVESTIGATOR

Central Study Contacts

Thomas Edouard, MD, PhD

CONTACT

5 34 55 85 55; edouard.t@chu-toulouse.fr

Françoise Auriol, PhD

CONTACT

5 67 77 10 95; auriol.f@chu-toulouse.fr

Study Design

• Study Type: observational
• Observational Model: COHORT
• Time Perspective: PROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: July 9, 2021
• First Posted: July 21, 2021
• Study Start: January 24, 2022
• Primary Completion (Estimated): August 7, 2026
• Study Completion (Estimated): August 7, 2031
• Last Updated: March 17, 2026

Record last verified: 2026-03

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)