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Genes Modulating the Severity of Aortic Aneurysms (MSF1-TGFBR2)

NCT05146375 · Status: ACTIVE_NOT_RECRUITING · Type: OBSERVATIONAL · Enrollment: 17

Last updated 2024-03-13

No results posted yet for this study

Summary

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.

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.

Conditions

  • Thoracic Aortic Aneurysm

Interventions

BIOLOGICAL

TGFBR2

TGFBR2 mutation correlation with severity of the aortic disease. Blood sampling. Serum will be analysed by DNA sequencing to detect specific mutations involved in aneurysms. Cutaneous biopsy. Fibroblast culture will be done to assess the transcriptome analysis.

Sponsors & Collaborators

  • Fédération Française de Cardiologie

    collaborator OTHER

  • Institut National de la Santé Et de la Recherche Médicale, France

    collaborator OTHER_GOV

  • French Cardiology Society

    lead OTHER

Principal Investigators

  • Guillaume JONDEAU, MD · Hopital Bichat-Claude Bernard

Eligibility

Min Age
10 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2022-11-24
Primary Completion
2023-09-28
Completion
2025-11-30

Countries

  • France

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT05146375 on ClinicalTrials.gov