Anvendelse af koblingsanalyse til identifikation af nye arvelige faktorer i familiære aneurismer (ORPHADIAG)
The aim of this study is to describe the effectiveness of the application of Linkage Analysis, compared to the standard procedures currently provided by the italian NHS, in the identification of thoracic aortic aneurysms and dissection (TAAD) transmission markers in individuals with familial TAAD.
Studieoversigt
Status
Intervention / Behandling
Detaljeret beskrivelse
According to current guidelines, it is important to screen first-degree relatives of patients with familial thoracic aortic aneurysm and dissection (FTAAD) using imaging techniques in order to detect any undiagnosed or asymptomatic cases. The current diagnostic methods for FTAAD involve clinical and instrumental diagnosis. In addition to these methods, genetic analysis through DNA testing, using a blood sample has become an essential tool. The use of massive parallel sequencing (NGS) of multiple genes or the entire exome (Whole Exome Sequencing - WES) is considered the gold standard for genetic diagnosis of FTAAD. However, it should be noted that linkage studies are not currently included in the diagnostic protocols of the Italian National Health System, although they may be helpful in complex familial cases where DNA sequencing has not provided conclusive evidence.
Undersøgelsestype
Tilmelding (Anslået)
Kontakter og lokationer
Studiekontakt
- Navn: Alessandro Pini, MD
- Telefonnummer: +39 0252774705
- E-mail: alessandro.pini@grupposandonato.it
Undersøgelse Kontakt Backup
- Navn: Nathasha S Udugmpolage, Master of Science in Nursing
- E-mail: nathasha.udugampolage@grupposandonato.it
Studiesteder
-
-
Milan
-
San Donato Milanese, Milan, Italien, 20097
- Ikke rekrutterer endnu
- Cardiovascular Genetic Centre
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Kontakt:
- Alessandro Pini
- Telefonnummer: +39 0252774705
- E-mail: alessandro.pini@grupposandonato.it
-
Kontakt:
- Nathasha S Udugampolage
-
San Donato Milanese, Milan, Italien, 20097
- Rekruttering
- Cardiovascular Genetic Centre
-
Kontakt:
- Alessandro Pini
- Telefonnummer: +39 0252774705
- E-mail: alessandro.pini@grupposandonato.it
-
Kontakt:
- Nathasha S Udugampolage
-
-
Deltagelseskriterier
Berettigelseskriterier
Aldre berettiget til at studere
Tager imod sunde frivillige
Køn, der er berettiget til at studere
Prøveudtagningsmetode
Studiebefolkning
Families of patients with FTAAD in follow-up in an italian reference centre for genetic aorthopathies.
Beskrivelse
Inclusion Criteria:
- Patients with ascending thoracic aortic aneurysms in the absence of a mutation identified by WES
- Subjects with small and medium artery aneurysms in the absence of a mutation identified by WES
- Relatives of individuals with ascending thoracic aortic aneurysms in the absence of a mutation identified by WES
- Relatives of individuals with ascending thoracic aortic aneurysms in the absence of a mutation identified by WES
- Signed informed consent
Exclusion Criteria:
- Subjects wit syndromic FTAAD with WES identified gene mutation
- Subjects wit non-syndromic FTAAD with WES identified gene mutation
Studieplan
Hvordan er undersøgelsen tilrettelagt?
Design detaljer
- Observationsmodeller: FAMILY_BASED
- Tidsperspektiver: CROSS_SECTIONAL
Kohorter og interventioner
Gruppe / kohorte |
Intervention / Behandling |
|---|---|
|
FTAAD
members of families with FTAAD |
WES-Linkage analysis in families with FTAAD in follow-up in an Italian reference centre for genetic aorthopathies |
Hvad måler undersøgelsen?
Primære resultatmål
Resultatmål |
Foranstaltningsbeskrivelse |
Tidsramme |
|---|---|---|
|
DNA sequences in FTAAD
Tidsramme: 16 months
|
Identify those chromosome regions containing the DNA sequences responsible for each enrolled member of FTAAD families |
16 months
|
Sekundære resultatmål
Resultatmål |
Foranstaltningsbeskrivelse |
Tidsramme |
|---|---|---|
|
Mutations associated with Mendelian and monogenic diseases
Tidsramme: 24 months
|
Identification of potential sites for the location of the responsible gene and mutations associated with Mendelian and monogenic diseases. |
24 months
|
Samarbejdspartnere og efterforskere
Sponsor
Samarbejdspartnere
Publikationer og nyttige links
Generelle publikationer
- Isselbacher EM, Lino Cardenas CL, Lindsay ME. Hereditary Influence in Thoracic Aortic Aneurysm and Dissection. Circulation. 2016 Jun 14;133(24):2516-28. doi: 10.1161/CIRCULATIONAHA.116.009762.
- Carino D, Agostinelli A, Molardi A, Benassi F, Gherli T, Nicolini F. The role of genetic testing in the prevention of acute aortic dissection. Eur J Prev Cardiol. 2018 Jun;25(1_suppl):15-23. doi: 10.1177/2047487318756433.
Datoer for undersøgelser
Studer store datoer
Studiestart (Faktiske)
Primær færdiggørelse (Anslået)
Studieafslutning (Anslået)
Datoer for studieregistrering
Først indsendt
Først indsendt, der opfyldte QC-kriterier
Først opslået (Faktiske)
Opdateringer af undersøgelsesjournaler
Sidste opdatering sendt (Faktiske)
Sidste opdatering indsendt, der opfyldte kvalitetskontrolkriterier
Sidst verificeret
Mere information
Begreber relateret til denne undersøgelse
Yderligere relevante MeSH-vilkår
Andre undersøgelses-id-numre
- ORPHADIAG
Plan for individuelle deltagerdata (IPD)
Planlægger du at dele individuelle deltagerdata (IPD)?
IPD-planbeskrivelse
IPD will be considered for sharing after data collection and analysis
Lægemiddel- og udstyrsoplysninger, undersøgelsesdokumenter
Studerer et amerikansk FDA-reguleret lægemiddelprodukt
Studerer et amerikansk FDA-reguleret enhedsprodukt
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