ClinicalTrials.gov record NCT04970459
Biological Collection for Marfan and Related Syndromes
Constitution of a Biological Collection to Study the Pathophysiology in Marfan Syndrome and Related Syndromes and to Identify Predictive Factors of Disease Progression
AI summaryWhat this study is about, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
This observational study builds a biological collection by taking extra blood and urine samples from people with Marfan syndrome or related syndromes during routine clinic visits. Samples are stored for future research to study disease mechanisms and to look for biological factors that predict severity and progression.
What it is studying. The study aims to create a stored set of biological samples to help researchers better understand the disease processes (pathophysiology) in Marfan and related syndromes and to identify biological factors that might predict how severe the disease becomes or how it progresses over time.
What the researchers hope to learn. Provide a biological resource (biobank) to enable future research. Improve understanding of multisystem features of Marfan and related syndromes. Identify biological markers that could predict disease severity or progression.
What this study is about
The study's own summary, as published on ClinicalTrials.gov. Underlined terms have a short explanation.
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.
Interventions being studied
Being studied in this trial does not mean the treatment or procedure is approved or available for this condition.
- Biological
- collection of samples of blood and urine
Eligibility
The criteria exactly as listed on ClinicalTrials.gov. Only the study team can say whether they apply to you.
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 description and what participation involves
The study's detailed description, as published on ClinicalTrials.gov.
Detailed description from the registry
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.
AI summaryWhat participation may involve, in plain languageShow ▾Hide ▴
AI-written from the registry record, not the study's own wording. May contain errors or omissions. Check the registry text on this page and the original record ↗ before acting on it.
With your consent, extra blood and urine samples will be collected during your regular clinic visits and stored for research. No experimental treatments are given as part of this study. Samples are used to build a biological collection for future research into Marfan syndrome and related conditions.
How the study is structured. A prospective observational cohort: extra blood and urine samples are collected at inclusion or during routine follow-up visits and stored for research. No experimental treatments are given; the study collects and preserves samples and related data for later studies.
Questions you could ask
These questions are suggestions for a conversation with the study team or your own clinician, not advice.
- This is an observational study, so the study itself gives no treatment. What would taking part involve for me, and would it change my usual care?
- The listed sites are in France. Is any of them reachable for me, and does the study help with travel?
- Which of the eligibility criteria would need to be checked with tests before I could join?
More on Marfan syndrome
Important dates
- Study start
- Jan 24, 2022
- Primary completion
- Aug 7, 2026 (estimated)
- Study completion
- Aug 7, 2031 (estimated)
- Target enrollment
- 300 participants (estimated)
- Last updated on registry
- Mar 17, 2026
- Data verified
- Oct 10, 2026
Sponsor and research team
The lead sponsor funds and oversees the trial. A pharmaceutical or biotech company sponsor typically means the study is testing that company's drug or device; a hospital, university, or government agency usually indicates investigator-initiated or publicly funded research.
- Lead sponsor
- University Hospital, Toulouse
Central study contact
If you're interested in participating, the central contact can answer general questions about the study — including eligibility requirements and how to find a recruiting site near you. Actual eligibility is determined by the site's medical team.
- Thomas Edouard, MD, PhD 📞 5 34 55 85 55 ext. 0033 ✉ edouard.t@chu-toulouse.fr
- Françoise Auriol, PhD 📞 5 67 77 10 95 ext. 0033 ✉ auriol.f@chu-toulouse.fr
Participating sites (1)
- Purpan University HospitalRecruiting
Toulouse, 31059 · France
- Thomas Edouard, MD, PhD · 5 34 55 85 55 ext. 0033 · edouard.t@chu-toulouse.fr
- Françoise Auriol, PhD · 5 67 77 10 95 ext. 0033 · auriol.f@chu-toulouse.fr
Terms used on this page · explanations by MedicalUpdates.ai
- legal representative
- A person who is legally allowed to make decisions, including consent to research, on behalf of someone who cannot consent for themselves.
- Inclusion Criteria
- The conditions a person must meet to be considered for the study, for example a confirmed diagnosis, an age range or a test result.
- Exclusion Criteria
- The conditions that rule a person out even if they meet the inclusion criteria, for example other illnesses, certain medicines or pregnancy.
The study record on this page is reproduced from ClinicalTrials.gov, a database of the U.S. National Library of Medicine, where it was submitted by the study sponsor. MedicalUpdates.ai does not own this content, is not affiliated with or endorsed by ClinicalTrials.gov, NIH, or the U.S. Government, and does not verify the record. Plain-language notes, the glossary and the questions above are added by this site; text in the boxes marked "AI summary" was written by an AI model and may contain errors. Registry records change over time. Check the original record for the current version and discuss eligibility or participation with a qualified healthcare professional.
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