Gene AbnormalityGEN-AORNCT04751058
Genetic Profile in Patients With Aortic Syndrome
An observational study of Gene Abnormality and Acute Aortic Syndrome, run by Hospitales Universitarios Virgen del Rocío at 2 sites in Spain.
Trial summary
The overall prevalence has increased significantly in the general population, which may be due in part to advances in diagnostic techniques, such as improved imaging techniques. Aortic dissection (AD) can cause sudden cardiac death (SCD). Read more about this study
- Who is it for?
- Ages 16 years and olderHealthy volunteers can take part
- Conditions the study is for
- Gene Abnormality, Acute Aortic Syndrome
- What is being tested?
- genetic analysis
- How many people
- 73 participants
- Where
- 2 sitesSpain
- Study dates
- 27 Feb 2021to 30 Mar 2022
- Phase
- Observational
- Are there results?
- None posted in the registry
Key requirements
Who can take part, as listed by the sponsor. Only the study team can confirm whether you are eligible, so take this list to your doctor.
- Ages 16 years and older
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: The study includes all patients who are admitted with the diagnosis of Acute Aortic Syndrome verified by imaging techniques (CT Angiography) in the Intensive Care Unit of a tertiary Hospital with a 24-hour Cardiac and Vascular Surgery Service
Who may be able to join
- Patient older than 16 years
- Patients admitted alive with a diagnosis of acute aortic syndrome
- Written consent to be DNA analysis and conservation in the DNA bank
Who cannot join
- Refusal to participate in the study and , or analysis of their DNA.
- Without life expectancy and , or Income without life.
Trial locations and contacts
2 sites in 1 country.
Spain2 sites
Hospital Universitario Virgen del Rocio
Seville, Andalusia, 41012
Hospital Universitario Virgen del Rocio
Seville, 41012
About this study
The overall prevalence has increased significantly in the general population, which may be due in part to advances in diagnostic techniques, such as improved imaging techniques. Aortic dissection (AD) can cause sudden cardiac death (SCD). Approximately 95% of thoracic AAS are clinically "silent" until a life-threatening complication arises in an unpredictable manner and presents as sudden cardiac death. The peak incidence of death caused by aortic dissection occurs within 48 hours, therefore, timely diagnosis is essential and saves lives.
We have traditionally associated as risk factors in patients with ASA long-term arterial hypertension, present in 66-75% of cases, smoking, dyslipidemia or atherosclerotic disease. Likewise, any condition that alters the structure of the aorta such as: collagen diseases, aneurysms, bicuspid aorta, and manipulation of the thoracic aorta (cardiac surgery, 18%, or percutaneous intervention that can injure the intima) is involved in ASA. In addition to the well-known hereditary syndromes that affect collagen (Marfan, Elher-Danlos ...) there is a clear familial aggregation: 13-19% of patients without identifiable syndrome have first-degree relatives with thoracic aortic aneurysms or ICD, something that has been called "thoracic aortic dissection and familial aneurysm syndrome."
Notable achievements have been made in the discovery of genetic mutations associated with SAA and key regulatory molecules involved, including the extracellular matrix (ECM), cytoskeletal proteins, and the TGF-β signaling pathway. Identification of the causative gene is advantageous for both patients and their families, especially those who do not show symptoms. The specific underlying genotype could benefit the process of diagnosis, surveillance and surgery, with the aim of reducing morbidity and mortality
Read the detailed description
HYPOTHESIS.:
A proportion of patients admitted to the Hospital with a diagnosis of Aortic Syndrome without phenotypic characteristics are carriers of mutations. The presence of these mutations can condition both the indication for treatment, post-surgical aortic remodeling, and family traceability.
OBJECTIVE.:
The objective of this study is to analyze the prevalence of mutations in non-phenotypic patients admitted urgently due to Aortic Syndrome.
Material and method:
Patients admitted to the Intensive Care Unit of the Virgen del Rocio University Hospital in Seville (third level Hospital) with the diagnosis of Aortic Syndrome will be included. The clinical and angiographic variables were analyzed. All patients will undergo, with prior informed consent, a peripheral blood extraction, from which a DNA sample will be obtained using the ChemagicTM 360 equipment. This DNA will be processed for massive sequencing on Illumina's NextSeq500 platform using the technology Capture SeqCap EZ Choice Library NimbleGen. The data generated will be analyzed bioinformatically and the identified variants prioritized based on their population frequency (<0.01), location (exonic and close to splicing sites), their presence in databases of clinical significance ClinVar, HGMD and LOVD and the phenotypic association of the mutated gene OMIM and Orphanet.
- Conditions
- Gene Abnormality, Acute Aortic Syndrome
- Being tested
- genetic analysis
- Medical subject headings
- Acute Aortic Syndrome
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
genetic analysisGenetic
Intervention details: sampling in peripheral blood for the Methodology:
- Automatic DNA extraction (ChemagicTM 360)
- Mass sequencing using SeqCap EZ Choice Library capture technology (NimbleGen) and NextSeq sequencer (Illumina).
- 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.
What is being measured
The primary outcome is the main question the study is designed to answer.
% of patients with presence of Missense mutations
massive sequencing
Measured: post-treatment
% of patients with presence of splicing mutations
massive sequencing
Measured: post-treatment
% of patients with presence of frameshift mutations
massive sequencing
Measured: post-treatment
% of patients with presence of nonframeshift mutations
massive sequencing
Measured: post-treatment
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted11 Feb 2021
- Study start27 Feb 2021
- Primary completion30 Mar 2022
- Study completion30 Mar 2022
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (22)Papers the sponsor has linked to this study.
- Other trials for Gene AbnormalityStudies of the same condition, open and under way.
- What the trial phases meanHow a treatment moves from first tests in people to approval.
More details
For doctors and researchers: how the study is designed, who runs it, and its registry IDs.
Study design
- Study type
- Observational
- Observational model
- Cohort
- Time perspective
- Prospective
- Enrolment
- 73 participants (actual)
Sponsor and investigators
- Lead sponsor
- Hospitales Universitarios Virgen del Rocío
- Sponsor type
- University, hospital or other
- Responsible party
- Principal investigator, Antonio M. Puppo Moreno, Hospitales Universitarios Virgen del Rocío
- Investigators
- Antonio M Puppo Moreno, MD;PhD, Principal investigator, Andaluz Health Service
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04751058
- Sponsor's protocol ID
- HU Virgen Rocio
- Acronym
- GEN-AOR
- Status last verified
- Apr 2022
- First submitted
- 21 Dec 2020
- Last updated
- 22 Apr 2022
- Results posted
- No
- Data monitoring committee
- Yes
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- No
Publications
Bravo-Gil N, Gonzalez-Del Pozo M, Martin-Sanchez M, Mendez-Vidal C, Rodriguez-de la Rua E, Borrego S, Antinolo G. Unravelling the genetic basis of simplex Retinitis Pigmentosa cases. Sci Rep. 2017 Feb 3;7:41937. doi: 10.1038/srep41937.
PubMed 28157192Lopez-Domingo FJ, Florido JP, Rueda A, Dopazo J, Santoyo-Lopez J. ngsCAT: a tool to assess the efficiency of targeted enrichment sequencing. Bioinformatics. 2014 Jun 15;30(12):1767-8. doi: 10.1093/bioinformatics/btu108. Epub 2014 Feb 26.
PubMed 24578402Biddinger A, Rocklin M, Coselli J, Milewicz DM. Familial thoracic aortic dilatations and dissections: a case control study. J Vasc Surg. 1997 Mar;25(3):506-11. doi: 10.1016/s0741-5214(97)70261-1.
PubMed 9081132Albornoz G, Coady MA, Roberts M, Davies RR, Tranquilli M, Rizzo JA, Elefteriades JA. Familial thoracic aortic aneurysms and dissections--incidence, modes of inheritance, and phenotypic patterns. Ann Thorac Surg. 2006 Oct;82(4):1400-5. doi: 10.1016/j.athoracsur.2006.04.098.
PubMed 16996941Coady MA, Davies RR, Roberts M, Goldstein LJ, Rogalski MJ, Rizzo JA, Hammond GL, Kopf GS, Elefteriades JA. Familial patterns of thoracic aortic aneurysms. Arch Surg. 1999 Apr;134(4):361-7. doi: 10.1001/archsurg.134.4.361.
PubMed 10199307Milewicz D, Hostetler E, Wallace S, Mellor-Crummey L, Gong L, Pannu H, Guo DC, Regalado E. Precision medical and surgical management for thoracic aortic aneurysms and acute aortic dissections based on the causative mutant gene. J Cardiovasc Surg (Torino). 2016 Apr;57(2):172-7. Epub 2016 Feb 2.
PubMed 26837258Elefteriades JA, Farkas EA. Thoracic aortic aneurysm clinically pertinent controversies and uncertainties. J Am Coll Cardiol. 2010 Mar 2;55(9):841-57. doi: 10.1016/j.jacc.2009.08.084.
PubMed 20185035Milewicz DM, Chen H, Park ES, Petty EM, Zaghi H, Shashidhar G, Willing M, Patel V. Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections. Am J Cardiol. 1998 Aug 15;82(4):474-9. doi: 10.1016/s0002-9149(98)00364-6.
PubMed 9723636Robertson EN, van der Linde D, Sherrah AG, Vallely MP, Wilson M, Bannon PG, Jeremy RW. Familial non-syndromal thoracic aortic aneurysms and dissections - Incidence and family screening outcomes. Int J Cardiol. 2016 Oct 1;220:43-51. doi: 10.1016/j.ijcard.2016.06.086. Epub 2016 Jun 23.
PubMed 27372041Renner S, Schuler H, Alawi M, Kolbe V, Rybczynski M, Woitschach R, Sheikhzadeh S, Stark VC, Olfe J, Roser E, Seggewies FS, Mahlmann A, Hempel M, Hartmann MJ, Hillebrand M, Wieczorek D, Volk AE, Kloth K, Koch-Hogrebe M, Abou Jamra R, Mitter D, Altmuller J, Wey-Fabrizius A, Petersen C, Rau I, Borck G, Kubisch C, Mir TS, von Kodolitsch Y, Kutsche K, Rosenberger G. Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. Genet Med. 2019 Aug;21(8):1832-1841. doi: 10.1038/s41436-019-0435-z. Epub 2019 Jan 24.
PubMed 30675029Poninska JK, Bilinska ZT, Franaszczyk M, Michalak E, Rydzanicz M, Szpakowski E, Pollak A, Milanowska B, Truszkowska G, Chmielewski P, Sioma A, Janaszek-Sitkowska H, Klisiewicz A, Michalowska I, Makowiecka-Ciesla M, Kolsut P, Stawinski P, Foss-Nieradko B, Szperl M, Grzybowski J, Hoffman P, Januszewicz A, Kusmierczyk M, Ploski R. Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations. J Transl Med. 2016 May 4;14(1):115. doi: 10.1186/s12967-016-0870-4.
PubMed 27146836Proost D, Vandeweyer G, Meester JA, Salemink S, Kempers M, Ingram C, Peeters N, Saenen J, Vrints C, Lacro RV, Roden D, Wuyts W, Dietz HC, Mortier G, Loeys BL, Van Laer L. Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes. Hum Mutat. 2015 Aug;36(8):808-14. doi: 10.1002/humu.22802. Epub 2015 Jun 13.
PubMed 25907466Arslan-Kirchner M, Arbustini E, Boileau C, Charron P, Child AH, Collod-Beroud G, De Backer J, De Paepe A, Dierking A, Faivre L, Hoffjan S, Jondeau G, Keyser B, Loeys B, Mayer K, Robinson PN, Schmidtke J. Clinical utility gene card for: Hereditary thoracic aortic aneurysm and dissection including next-generation sequencing-based approaches. Eur J Hum Genet. 2016 Jan;24(1):e1-5. doi: 10.1038/ejhg.2015.225. Epub 2015 Oct 28. No abstract available.
PubMed 26508578Renard M, Francis C, Ghosh R, Scott AF, Witmer PD, Ades LC, Andelfinger GU, Arnaud P, Boileau C, Callewaert BL, Guo D, Hanna N, Lindsay ME, Morisaki H, Morisaki T, Pachter N, Robert L, Van Laer L, Dietz HC, Loeys BL, Milewicz DM, De Backer J. Clinical Validity of Genes for Heritable Thoracic Aortic Aneurysm and Dissection. J Am Coll Cardiol. 2018 Aug 7;72(6):605-615. doi: 10.1016/j.jacc.2018.04.089.
PubMed 30071989Zheng J, Guo J, Huang L, Wu Q, Yin K, Wang L, Zhang T, Quan L, Zhao Q, Cheng J. Genetic diagnosis of acute aortic dissection in South China Han population using next-generation sequencing. Int J Legal Med. 2018 Sep;132(5):1273-1280. doi: 10.1007/s00414-018-1890-9. Epub 2018 Jul 28.
PubMed 30056620
Study at a glance
From the registry record, last updated by the sponsor on 22 Apr 2022. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Genetic Profile in Patients With Aortic Syndrome
- ClinicalTrials.gov ID
- NCT04751058
- Acronym / sponsor ID
- GEN-AOR / HU Virgen Rocio
- Conditions
- Gene Abnormality, Acute Aortic Syndrome
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 73 participants (actual)
- Lead sponsor
- Hospitales Universitarios Virgen del RocíoUniversity, hospital or other
- Study start
- 27 Feb 2021 (actual)
- Primary completion
- 30 Mar 2022 (actual)
- Study completion
- 30 Mar 2022 (actual)
- First posted
- 11 Feb 2021 (actual)
- Results
- Not posted in the source record
Clinical summary
The research question as the sponsor registered it. This describes what the study plans to test, not what it found.
The overall prevalence has increased significantly in the general population, which may be due in part to advances in diagnostic techniques, such as improved imaging techniques. Aortic dissection (AD) can cause sudden cardiac death (SCD). Approximately 95% of thoracic AAS are clinically "silent" until a life-threatening complication arises in an unpredictable manner and presents as sudden cardiac death. The peak incidence of death caused by aortic dissection occurs within 48 hours, therefore, timely diagnosis is essential and saves lives.
We have traditionally associated as risk factors in patients with ASA long-term arterial hypertension, present in 66-75% of cases, smoking, dyslipidemia or atherosclerotic disease. Likewise, any condition that alters the structure of the aorta such as: collagen diseases, aneurysms, bicuspid aorta, and manipulation of the thoracic aorta (cardiac surgery, 18%, or percutaneous intervention that can injure the intima) is involved in ASA. In addition to the well-known hereditary syndromes that affect collagen (Marfan, Elher-Danlos ...) there is a clear familial aggregation: 13-19% of patients without identifiable syndrome have first-degree relatives with thoracic aortic aneurysms or ICD, something that has been called "thoracic aortic dissection and familial aneurysm syndrome."
Notable achievements have been made in the discovery of genetic mutations associated with SAA and key regulatory molecules involved, including the extracellular matrix (ECM), cytoskeletal proteins, and the TGF-β signaling pathway. Identification of the causative gene is advantageous for both patients and their families, especially those who do not show symptoms. The specific underlying genotype could benefit the process of diagnosis, surveillance and surgery, with the aim of reducing morbidity and mortality
Detailed description
HYPOTHESIS.:
A proportion of patients admitted to the Hospital with a diagnosis of Aortic Syndrome without phenotypic characteristics are carriers of mutations. The presence of these mutations can condition both the indication for treatment, post-surgical aortic remodeling, and family traceability.
OBJECTIVE.:
The objective of this study is to analyze the prevalence of mutations in non-phenotypic patients admitted urgently due to Aortic Syndrome.
Material and method:
Patients admitted to the Intensive Care Unit of the Virgen del Rocio University Hospital in Seville (third level Hospital) with the diagnosis of Aortic Syndrome will be included. The clinical and angiographic variables were analyzed. All patients will undergo, with prior informed consent, a peripheral blood extraction, from which a DNA sample will be obtained using the ChemagicTM 360 equipment. This DNA will be processed for massive sequencing on Illumina's NextSeq500 platform using the technology Capture SeqCap EZ Choice Library NimbleGen. The data generated will be analyzed bioinformatically and the identified variants prioritized based on their population frequency (<0.01), location (exonic and close to splicing sites), their presence in databases of clinical significance ClinVar, HGMD and LOVD and the phenotypic association of the mutated gene OMIM and Orphanet.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
Who may qualify
- Ages
- 16 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- The study includes all patients who are admitted with the diagnosis of Acute Aortic Syndrome verified by imaging techniques (CT Angiography) in the Intensive Care Unit of a tertiary Hospital with a 24-hour Cardiac and Vascular Surgery Service
Key inclusion criteria (3 listed)
- Patient older than 16 years
- Patients admitted alive with a diagnosis of acute aortic syndrome
- Written consent to be DNA analysis and conservation in the DNA bank
Key exclusion criteria (2 listed)
- Refusal to participate in the study and , or analysis of their DNA.
- Without life expectancy and , or Income without life.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Interventions
| Intervention | Type | Arms |
|---|---|---|
| genetic analysisIntervention 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. | Genetic | – |
Primary outcome
% of patients with presence of Missense mutations
Time frame: post-treatment
massive sequencing
% of patients with presence of splicing mutations
Time frame: post-treatment
massive sequencing
% of patients with presence of frameshift mutations
Time frame: post-treatment
massive sequencing
% of patients with presence of nonframeshift mutations
Time frame: post-treatment
massive sequencing
Results and safety
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
Research links
- Official record on ClinicalTrials.govLast updated by the sponsor 22 Apr 2022.
- Background: PubMed 28157192Bravo-Gil N, Gonzalez-Del Pozo M, Martin-Sanchez M, Mendez-Vidal C, Rodriguez-de la Rua E, Borrego S, Antinolo G. Unravelling the genetic basis of simplex Retinitis Pigmentosa cases. Sci Rep. 2017 Feb 3;7:41937. doi: 10.1038/srep41937.
- Background: PubMed 24578402Lopez-Domingo FJ, Florido JP, Rueda A, Dopazo J, Santoyo-Lopez J. ngsCAT: a tool to assess the efficiency of targeted enrichment sequencing. Bioinformatics. 2014 Jun 15;30(12):1767-8. doi: 10.1093/bioinformatics/btu108. Epub 2014 Feb 26.
- Background: PubMed 9081132Biddinger A, Rocklin M, Coselli J, Milewicz DM. Familial thoracic aortic dilatations and dissections: a case control study. J Vasc Surg. 1997 Mar;25(3):506-11. doi: 10.1016/s0741-5214(97)70261-1.
- Background: PubMed 16996941Albornoz G, Coady MA, Roberts M, Davies RR, Tranquilli M, Rizzo JA, Elefteriades JA. Familial thoracic aortic aneurysms and dissections--incidence, modes of inheritance, and phenotypic patterns. Ann Thorac Surg. 2006 Oct;82(4):1400-5. doi: 10.1016/j.athoracsur.2006.04.098.
- Background: PubMed 10199307Coady MA, Davies RR, Roberts M, Goldstein LJ, Rogalski MJ, Rizzo JA, Hammond GL, Kopf GS, Elefteriades JA. Familial patterns of thoracic aortic aneurysms. Arch Surg. 1999 Apr;134(4):361-7. doi: 10.1001/archsurg.134.4.361.
- Background: PubMed 26837258Milewicz D, Hostetler E, Wallace S, Mellor-Crummey L, Gong L, Pannu H, Guo DC, Regalado E. Precision medical and surgical management for thoracic aortic aneurysms and acute aortic dissections based on the causative mutant gene. J Cardiovasc Surg (Torino). 2016 Apr;57(2):172-7. Epub 2016 Feb 2.
- Background: PubMed 20185035Elefteriades JA, Farkas EA. Thoracic aortic aneurysm clinically pertinent controversies and uncertainties. J Am Coll Cardiol. 2010 Mar 2;55(9):841-57. doi: 10.1016/j.jacc.2009.08.084.
- Background: PubMed 9723636Milewicz DM, Chen H, Park ES, Petty EM, Zaghi H, Shashidhar G, Willing M, Patel V. Reduced penetrance and variable expressivity of familial thoracic aortic aneurysms/dissections. Am J Cardiol. 1998 Aug 15;82(4):474-9. doi: 10.1016/s0002-9149(98)00364-6.
- Background: PubMed 27372041Robertson EN, van der Linde D, Sherrah AG, Vallely MP, Wilson M, Bannon PG, Jeremy RW. Familial non-syndromal thoracic aortic aneurysms and dissections - Incidence and family screening outcomes. Int J Cardiol. 2016 Oct 1;220:43-51. doi: 10.1016/j.ijcard.2016.06.086. Epub 2016 Jun 23.
- Background: PubMed 30675029Renner S, Schuler H, Alawi M, Kolbe V, Rybczynski M, Woitschach R, Sheikhzadeh S, Stark VC, Olfe J, Roser E, Seggewies FS, Mahlmann A, Hempel M, Hartmann MJ, Hillebrand M, Wieczorek D, Volk AE, Kloth K, Koch-Hogrebe M, Abou Jamra R, Mitter D, Altmuller J, Wey-Fabrizius A, Petersen C, Rau I, Borck G, Kubisch C, Mir TS, von Kodolitsch Y, Kutsche K, Rosenberger G. Next-generation sequencing of 32 genes associated with hereditary aortopathies and related disorders of connective tissue in a cohort of 199 patients. Genet Med. 2019 Aug;21(8):1832-1841. doi: 10.1038/s41436-019-0435-z. Epub 2019 Jan 24.
- Background: PubMed 27146836Poninska JK, Bilinska ZT, Franaszczyk M, Michalak E, Rydzanicz M, Szpakowski E, Pollak A, Milanowska B, Truszkowska G, Chmielewski P, Sioma A, Janaszek-Sitkowska H, Klisiewicz A, Michalowska I, Makowiecka-Ciesla M, Kolsut P, Stawinski P, Foss-Nieradko B, Szperl M, Grzybowski J, Hoffman P, Januszewicz A, Kusmierczyk M, Ploski R. Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations. J Transl Med. 2016 May 4;14(1):115. doi: 10.1186/s12967-016-0870-4.
- Background: PubMed 25907466Proost D, Vandeweyer G, Meester JA, Salemink S, Kempers M, Ingram C, Peeters N, Saenen J, Vrints C, Lacro RV, Roden D, Wuyts W, Dietz HC, Mortier G, Loeys BL, Van Laer L. Performant Mutation Identification Using Targeted Next-Generation Sequencing of 14 Thoracic Aortic Aneurysm Genes. Hum Mutat. 2015 Aug;36(8):808-14. doi: 10.1002/humu.22802. Epub 2015 Jun 13.
- Individual participant dataSharing planned: No
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Referral and contact
AzTrials does not enrol participants or take referrals. Contact the study team or a site listed below; they decide who can take part. This study is not recruiting at the moment.
Antonio M Puppo Moreno, MD;PhD principal investigator
Andaluz Health Service
2 sites in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Gene Abnormality and Acute Aortic Syndrome, run by Hospitales Universitarios Virgen del Rocío at 2 sites in Spain.
The full registered description is in the About this study section and the official record.
Who may be eligible to take part?
The sponsor lists 3 inclusion and 2 exclusion criteria. Eligibility is decided by the study team after screening, so read the full criteria and contact a listed site.
Is this clinical trial currently recruiting?
The record says: finished, as of the sponsor's last update on 22 Apr 2022. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 2 sites in Spain. Whether a site is taking part right now should be confirmed with that site. See every site.
What are the possible benefits and risks?
They depend on the study and the treatment, and no study can promise a benefit. The study team explains the known risks during informed consent, before anyone joins; the record itself does not list them.
Are results available for this study?
The study is completed, but results are not available in the source record. That does not mean the treatment did or did not work.
How can a doctor refer a patient or contact the research team?
The record lists no contact. The official record names the sponsor, who can be asked directly. AzTrials does not enrol participants or take referrals.
What does the primary outcome measure?
% of patients with presence of Missense mutations (time frame: post-treatment). The study lists 4 primary outcomes in all. It is what the study was designed to measure, not a finding.
Where can I read the original study information?
On the ClinicalTrials.gov record for NCT04751058, which also lists 22 linked publications.
Does a listing mean the treatment is approved or proven to work?
No. A listing means the study is registered. It does not show that the treatment is safe, works, or is approved by a regulator.
How often is this information updated?
AzTrials copies changed records from ClinicalTrials.gov every night and reloads the whole registry every week. The sponsor last updated this record on 22 Apr 2022.