Biological Collection for Marfan and Related Syndromes

Marfan Syndrome Clinical Trial

— MARFANS  

Official title:

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

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04970459
• Other study ID #: RC31/21/0178
• Status: Recruiting
• Start date: January 24, 2022
• Est. completion date: August 7, 2031

Study information

• Verified date: March 2024
• Source: University Hospital, Toulouse
• Contact: Thomas Edouard, MD, PhD
• Phone: 5 34 55 85 55
• Email: edouard.t[@]chu-toulouse.fr
• Is FDA regulated: No
• Study type: Observational

Clinical Trial 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.

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.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 300
• Est. completion date: August 7, 2031
• Est. primary completion date: August 7, 2026
• Accepts healthy volunteers: No
• Gender: All
• Age group: 3 Years to 99 Years

Eligibility

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

Related Conditions & MeSH terms

• Marfan Syndrome
• Syndrome

Intervention

Biological:
• collection of samples of blood and urine
extra samples of blood and urine will be collected and stored for research utilisation

Locations

Country	Name	City	State
France	Purpan University Hospital	Toulouse

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Toulouse

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Constitution of a biological collection from patients with Marfan or related syndromes.	extra sample of blood and urine will be collected	Day 0
Primary	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