Marfan SyndromeMARFANSNCT04970459
Biological Collection for Marfan and Related Syndromes
An observational study of Marfan Syndrome, run by University Hospital, Toulouse at 1 site in France.
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. Read more about this study
- Who is it for?
- Ages 3 to 99 years
- Conditions the study is for
- Marfan Syndrome
- What is being tested?
- collection of samples of blood and urine
- How many people
- 300 participants
- Where
- 1 siteFrance
- Study dates
- 24 Jan 2022to 7 Aug 2031
- Phase
- Observational
- Are there results?
- Not yet: the study is under way
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 3 to 99 years
- All sexes
- No healthy volunteers
- Child, Adult, Older adult
Study population: Patients followed at the Rare Diseases Reference Centre (CRMR) for Marfan syndrome at the Toulouse University Hospital.
Who may be able to join
- 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)
Who cannot join
- Patients subject to a legal protection measure (guardianship, curators, or safeguard of justice)
- Pregnant or breastfeeding women
Trial locations and contacts
1 site in 1 country. Contact the study team or a site near you to ask about taking part.
France1 site, 1 recruiting
- Recruiting
Purpan University Hospital
Toulouse, 31059
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
About this study
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
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.
Read the 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.
- Conditions
- Marfan Syndrome
- Being tested
- collection of samples of blood and urine
- Keywords
- Biological collection, Marfan syndrome, Marfan associated syndromes
- Medical subject headings
- Marfan Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
collection of samples of blood and urineBiological
extra samples of blood and urine will be collected and stored for research utilisation
| Study group | Role | What they receive |
|---|---|---|
| Patients with Marfan syndrome or related syndromes | Children aged at least 3 years old or adult with Marfan syndrome or related syndromes Receives: Biological: collection of samples of blood and urine |
What is being measured
The primary outcome is the main question the study is designed to answer.
Constitution of a biological collection from patients with Marfan or related syndromes.
extra sample of blood and urine will be collected
Measured: 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
Measured: during the intervention/procedure/surgery
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted21 Jul 2021
- Study start24 Jan 2022
- Primary completion7 Aug 2026 (estimated)
- Study completion7 Aug 2031 (estimated)
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Marfan SyndromeStudies of the same condition, open and under way.
- More trials run by University Hospital, ToulouseThe sponsor's other registered studies.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 300 participants (estimated)
Sponsor and investigators
- Lead sponsor
- University Hospital, Toulouse
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Thomas Edouard, MD, Principal investigator, University Hospital, Toulouse
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04970459
- Sponsor's protocol ID
- RC31/21/0178
- Acronym
- MARFANS
- Status last verified
- Mar 2026
- First submitted
- 9 Jul 2021
- Last updated
- 17 Mar 2026
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Study at a glance
From the registry record, last updated by the sponsor on 17 Mar 2026. Recruitment status is as the sponsor reported it: confirm with the study team.
- 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
- ClinicalTrials.gov ID
- NCT04970459
- Acronym / sponsor ID
- MARFANS / RC31/21/0178
- Conditions
- Marfan Syndrome
- Keywords
- Biological collection, Marfan syndrome, Marfan associated syndromes
- Study type
- Observational
- Recruitment status
- Recruiting
- Enrolment
- 300 participants (estimated)
- Lead sponsor
- University Hospital, ToulouseUniversity, hospital or other
- Study start
- 24 Jan 2022 (actual)
- Primary completion
- 7 Aug 2026 (estimated)
- Study completion
- 7 Aug 2031 (estimated)
- First posted
- 21 Jul 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
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.
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 design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 1
| Arm | Type | Receives |
|---|---|---|
| Patients with Marfan syndrome or related syndromes | – | Biological: collection of samples of blood and urineChildren aged at least 3 years old or adult with Marfan syndrome or related syndromes |
Who may qualify
- Ages
- 3 to 99 years
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Child, Adult, Older adult
- Study population
- Patients followed at the Rare Diseases Reference Centre (CRMR) for Marfan syndrome at the Toulouse University Hospital.
Key inclusion criteria (4 listed)
- 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)
Key exclusion criteria (2 listed)
- Patients subject to a legal protection measure (guardianship, curators, or safeguard of justice)
- Pregnant or breastfeeding women
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| collection of samples of blood and urineextra samples of blood and urine will be collected and stored for research utilisation | Biological | Patients with Marfan syndrome or related syndromes |
Primary outcome
Constitution of a biological collection from patients with Marfan or related syndromes.
Time frame: Day 0
extra sample of blood and urine will be collected
Constitution of a biological collection from patients with Marfan or related syndromes. Collection of samples at inclusion.
Time frame: during the intervention/procedure/surgery
extra sample of blood and urine will be collected
Results and safety
This study is still under way. Results are not available in the source record yet.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 17 Mar 2026.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part.
Thomas Edouard, MD principal investigator
University Hospital, Toulouse
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Marfan Syndrome, run by University Hospital, Toulouse at 1 site in France.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 4 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: looking for participants now, as of the sponsor's last update on 17 Mar 2026. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
This study is still under way. Results are not available in the source record yet.
How can a doctor refer a patient or contact the research team?
Contact Thomas Edouard, MD, PhD (5 34 55 85 55 ext. 0033, edouard.t@chu-toulouse.fr), or a site near the patient. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
Constitution of a biological collection from patients with Marfan or related syndromes. (time frame: Day 0). The study lists 2 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 17 Mar 2026.