Genes Modulating the Severity of Aortic Aneurysms (MSF1-TGFBR2)
Key facts
- Who runs it
- French Cardiology Society
- Where
- France1 site in 1 countryChoose a country to see its sites
- Trial code
- Status
- Completed
- People taking part
- 17 people enrolled
- Started
- 24 Nov 2022
- Ended
- 30 Nov 2025
- Type of study
- Observational
- Treatments tested
- TGFBR2
- Record updated
- 9 October 2026
Who can take part
- Age
- 10 years and older
- Sex
- Women and men
The registry criteria, word for word
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Who can take part
- Member of MSF1 family. The MFS1 family is a family in which the aortic pathology is due to a mutation in the TGFBR2 gene. All patients with this family carry the same TGFBR2 mutation (heterozygous)
Who cannot take part
- Refusal or linguistic or psychological inability to sign informed consent
This trial has no sites in United States.
It has sites in one country. Choose a country to see its sites.
About the trial
What the trial wants to find out
This project concerns a population at risk of sudden death by dissection of the thoracic aorta. Its interest is to make it possible to recognize the genes that protect or worsen the evolution of aneurysms, to better understand the mechanisms involved, to detect and treat aneurysms of the thoracic aorta, wich is a pathology that is completely silent clinically until life-threatening complications.
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The variability in the severity of the disease within the same family is related to modifier genes.
The objective is to find the modifying factors that account for the variability in the severity of the progression of aneurysms of the thoracic aorta.
The group in the trial
- MSF1
Each member of the MSF1 family who consents to participate to the study will be included.
Treatment: TGFBR2
Data and sources
- Registry record
- Listed on ClinicalTrials.gov.
- Record updated
- 9 October 2026