Genetic Profile in Patients With Aortic Syndrome

CompletedOBSERVATIONAL
Enrollment

73

Participants

Timeline

Start Date

February 27, 2021

Primary Completion Date

March 30, 2022

Study Completion Date

March 30, 2022

Conditions
Gene AbnormalityAcute Aortic Syndrome
Interventions
GENETIC

genetic analysis

"Intervention details: sampling in peripheral blood for the Methodology:~1. Automatic DNA extraction (ChemagicTM 360)~2. Mass sequencing using SeqCap EZ Choice Library capture technology (NimbleGen) and NextSeq sequencer (Illumina).~3. Bioinformatic analysis:.~ * Identification of point mutations and small deletions or insertions~ * Analysis of CNVs using the BEDtools program package~ * Search of the identified variants in the following public databases: 1000G, dbSNP, ExAC, EVS, GenomADm CSVS and DGV. Those with a MAF\> 1% have been considered benign, in public or private databases of our population.~The analysis process has focused exclusively on the genes described to date as associated with the pathology under study and included in the panel used. The reference sequences used for these genes are: determination of possible mutations, nucleotics, etc."

Trial Locations (2)

41012

Hospital Universitario Virgen del Rocio, Seville

Hospital Universitario Virgen del Rocio, Seville

All Listed Sponsors
lead

Hospitales Universitarios Virgen del Rocío

OTHER

NCT04751058 - Genetic Profile in Patients With Aortic Syndrome | Biotech Hunter | Biotech Hunter