Thoracic Aortic AneurysmTAANCT02256163
Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm
An observational study of Thoracic Aortic Aneurysm, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial 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. Read more about this study
- Who is it for?
- Ages 18 years and older
- Conditions the study is for
- Thoracic Aortic Aneurysm
- How many people
- 258 participants
- Where
- 1 siteFrance
- Study dates
- Jun 2011to Mar 2017
- 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 18 years and older
- All sexes
- No healthy volunteers
- Adult, Older adult
Study population: Enrollement of individuals and families followed in the reference centers and the competence centers, * search for mutations in one of known genes such as FBN1, TGFBR1, TGFBR2, ACTA2, or MYH11. * search for new genes in families and individuals with TAA who without mutation in one of the known genes.
Who may be able to join
- For all:
- Aged > 18 years.
- Written informed consent obtained.
- People with health insurance.
- For individual:
- people ≥ 45 years, thoracic aortic aneurysm without syndrome,
Show all 10Show fewer
- 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.
Who cannot join
- Thoracic aortic aneurysm with different syndromes (Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome, Turner syndrome, Noonan syndrome).
- Arterial hypertension.
Trial locations and contacts
1 site in 1 country.
France1 site
Département de Génétique, Hôpital Bichat
Paris, Île-de-France Region, 75018
About this study
Official title: Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm (TAA)
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.
Read the 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.
- to develop national standardized strategies of genetic diagnosis and of clinical management using genetic data.
- Conditions
- Thoracic Aortic Aneurysm
- Keywords
- Thoracic Aortic Aneurysm (TAA), gene, familial TAA, blood collection
- Medical subject headings
- Aortic Aneurysm, Thoracic
What is being measured
The primary outcome is the main question the study is designed to answer.
Impact of known mutations and research of new genes involved in non syndromic TAA
Research for mutations in known genes such as FBN1, TGFBR1, TGFBR2, ACTA2, or MYH11.
Research for new genes in families and in individuals TAA patients without known mutation.
Measured: 1 year
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted3 Oct 2014 (estimated)
- Study startJun 2011
- Primary completionDec 2016
- Study completionMar 2017
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Thoracic Aortic AneurysmStudies of the same condition, open and under way.
- More trials run by Assistance Publique - Hôpitaux de ParisThe sponsor's other registered studies.
- 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
- Family based
- Time perspective
- Prospective
- Enrolment
- 258 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Catherine Boileau, MD, Principal investigator, Département de Génétique, Hôpital Bichat, France
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT02256163
- Sponsor's protocol ID
- NI10023
- Other IDs
- N° ID RCB: 2010-A01448-31, AOM10108
- Acronym
- TAA
- Status last verified
- Nov 2017
- First submitted
- 1 Oct 2014
- Last updated
- 20 Nov 2017
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 20 Nov 2017. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Identification of Genes and Pathogenesis Involved in Familial Thoracic Aortic Aneurysm (TAA)
- ClinicalTrials.gov ID
- NCT02256163
- Acronym / sponsor ID
- TAA / NI10023
- Conditions
- Thoracic Aortic Aneurysm
- Keywords
- Thoracic Aortic Aneurysm (TAA), gene, familial TAA, blood collection
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 258 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Study start
- Jun 2011 (actual)
- Primary completion
- Dec 2016 (actual)
- Study completion
- Mar 2017 (actual)
- First posted
- 3 Oct 2014 (estimated)
- 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 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.
- to develop national standardized strategies of genetic diagnosis and of clinical management using genetic data.
Study design
- Observational model
- Family based
- Time perspective
- Prospective
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Not accepted
- Age groups
- Adult, Older adult
- Study population
- Enrollement of individuals and families followed in the reference centers and the competence centers, * search for mutations in one of known genes such as FBN1, TGFBR1, TGFBR2, ACTA2, or MYH11. * search for new genes in families and individuals with TAA who without mutation in one of the known genes.
Key inclusion criteria (10 listed)
- Aged > 18 years.
- Written informed consent obtained.
- People with health insurance.
- people ≥ 45 years, thoracic aortic aneurysm without syndrome,
- or people > 45 years with familial TAA.
Key exclusion criteria (2 listed)
- Thoracic aortic aneurysm with different syndromes (Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome, Turner syndrome, Noonan syndrome).
- Arterial hypertension.
Eligibility is decided by the study team after screening; this overview does not establish that a patient qualifies. Full inclusion and exclusion criteria.
Primary outcome
Impact of known mutations and research of new genes involved in non syndromic TAA
Time frame: 1 year
Research for mutations in known genes such as FBN1, TGFBR1, TGFBR2, ACTA2, or MYH11. Research for new genes in families and in individuals TAA patients without known mutation.
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 20 Nov 2017.
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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.
Catherine Boileau, MD principal investigator
Département de Génétique, Hôpital Bichat, France
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
An observational study of Thoracic Aortic Aneurysm, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
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 10 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 20 Nov 2017. Status can change between updates, so confirm with the study contact before making plans.
Where is the study taking place?
The record lists 1 site in France. 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?
Impact of known mutations and research of new genes involved in non syndromic TAA (time frame: 1 year). It is what the study was designed to measure, not a finding.
Where can I read the original study information?
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 20 Nov 2017.