Prevalence and Significance of ATTR Aortic Valve Amyloidosis in Degenerative Aortic Stenosis

Amyloidosis Clinical Trial

— RACAMYL  

Official title:

Prevalence and Significance of ATTR Aortic Valve Amyloidosis in Degenerative Aortic Stenosis

Clinical Trial Details — Status: Recruiting

Administrative data

• NCT number: NCT04636684
• Other study ID #: RC31/19/0446
• Status: Recruiting
• Phase: N/A
• Start date: December 1, 2020
• Est. completion date: December 31, 2025

Study information

• Verified date: July 2023
• Source: University Hospital, Toulouse
• Contact: Magali COLOMBAT, MD
• Phone: 5 31 15 61 40
• Email: colombat.m[@]chu-toulouse.fr
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

Cardiac amyloidosis is a restrictive cardiomyopathy with a potentially severe prognosis that can be life-threatening. It is linked in the vast majority of cases to a light chain deposition of immunoglobulin or transthyretin. Although myocardial involvement is predominant, other locations are possible: the atrioventricular conduction system, coronary arteries and valve leaflets. In systematic histological analyzes, deposits of amyloidosis infiltrating the aortic valve have been reported with a frequency of up to 74% for degenerative RA. The nature of these deposits has never been established because the immunostaining carried out all remained negative, probably due to decalcification prior to cutting. Currently, these deposits are considered to be local degenerative phenomena without clinical repercussions. However, the use of bone scintigraphy has shown a high prevalence, between 14 and 16%, of ATTR cardiac amyloidosis in patients with severe RA. The diagnosis of ATTR amyloidosis has been proven histologically in a few patients. Sequencing of the TTR gene has shown that they are mainly wild forms. In fact, the prevalence of transthyretin mutations in our local cohort is 20%.

The objective of this study is to determine by proteomic analysis based on mass spectrometry, the prevalence of ATTR aortic valve amyloidosis in patients undergoing surgical valve replacement for degenerative aortic stenosis.

Recruitment information / eligibility

• Status: Recruiting
• Enrollment: 100
• Est. completion date: December 31, 2025
• Est. primary completion date: December 31, 2025
• Accepts healthy volunteers: No
• Gender: All
• Age group: 18 Years to 99 Years

Eligibility

Inclusion Criteria:

• Patient over 18 years old

• Degenerative aortic stenosis

• Aortic valve replacement surgery

• Signature of the informed consent form

Exclusion Criteria:

• Non-degenerative aortic stenosis: bicuspid, rheumatic disease, aortic regurgitation

• Persons under a system of legal protection for adults (guardianship, curatorship, etc.)

• Pregnant women

Related Conditions & MeSH terms

• Amyloidosis
• Aortic Valve Stenosis

Intervention

Diagnostic Test:
• Proteomic analysis
Proteomic analysis based on mass spectrometry on the sample of valve tissues.

Locations

Country	Name	City	State
France	university hospital center Toulouse	Toulouse

Sponsors (1)

Lead Sponsor	Collaborator
University Hospital, Toulouse

Country where clinical trial is conducted

France, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	prevalence rate of valvular ATTR amyloidosis	calculation of the prevalence rate of valvular ATTR amyloidosis with its 95% confidence interval.	1 year
Secondary	Prevalence of ATTR myocardial amyloidosis revealed by bone scintigraphy	The prevalence of ATTR myocardial amyloidosis revealed by bone scintigraphy (HMDP scan) will be calculated	1 year
Secondary	percentage of wild ATTR myocardial amyloidosis	The percentage of wild ATTR forms will be calculated	1 year
Secondary	percentage of mutated ATTR myocardial amyloidosis	The percentage of mutated ATTR forms will be calculated	1 year
Secondary	Prevalence of types of amyloidosis other than ATTR	The prevalence of types of amyloidosis other than ATTR will be calculated	1 year