Status:
COMPLETED
Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm
Lead Sponsor:
Assistance Publique - Hôpitaux de Paris
Conditions:
Thoracic Aortic Aneurysm
Eligibility:
All Genders
18+ years
Brief Summary
The primary objectives of the study are * to assess the contribution of alteration of each known gene on non-syndromic TAA. * to map and identify unknown gene involved in the non-syndromic TAA.
Detailed Description
The secondary objectives of the study are * to study the correlation of phenotype-genotype, in particular, to compare the aortic phenotype of non-syndromic TAA patients and TAA syndromic patients. * ...
Eligibility Criteria
Inclusion
- For all:
- Aged \> 18 years.
- Written informed consent obtained.
- People with health insurance.
- For individual:
- people ≥ 45 years, thoracic aortic aneurysm without syndrome,
- or people \> 45 years with familial TAA.
- For family:
- At least 2 members of family in 2 generations have TAA without syndrome and at least 2 patients of TAA will undergo blood collection.
- All people in family will undergo blood collection, each member should declare at first his (her) status (with or without TAA, unknown), the relationship (direct relative family or family in-law), no limit of age. For the children, only those with TAA will perform blood collection for the study.
Exclusion
- Thoracic aortic aneurysm with different syndromes (Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome, Turner syndrome, Noonan syndrome).
- Arterial hypertension.
Key Trial Info
Start Date :
June 1 2011
Trial Type :
OBSERVATIONAL
Allocation :
ACTUAL
End Date :
March 1 2017
Estimated Enrollment :
258 Patients enrolled
Trial Details
Trial ID
NCT02256163
Start Date
June 1 2011
End Date
March 1 2017
Last Update
November 20 2017
Active Locations (1)
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1
Département de Génétique, Hôpital Bichat
Paris, Île-de-France Region, France, 75018