Marfan SyndromeVariarfanNCT01707563
Clinical Variability in Marfan Syndrome
A study testing skin punch biopsy and molecular biology and fibroblast culture and molecular biology in people with Marfan Syndrome, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.
Trial summary
Marfan syndrome is an autosomal dominant connective tissue disorder caused by mutations in the fibrillin-1 gene (FBN1). Penetrance of FBN1 mutations is complete but intra and inter familial clinical expressivity is extremely variable. The underlying mechanisms for variability are not understood. Read more about this study
- Who is it for?
- Ages 18 years and olderHealthy volunteers can take part
- Conditions the study is for
- Marfan Syndrome
- What is being tested?
- skin punch biopsy and molecular biology and fibroblast culture and molecular biology
- Type of treatment
- Surgery or procedure
- Could I receive a placebo?
- No, everyone receives an active treatment
- How many people
- 160 participants
- Where
- 1 siteFrance
- Study dates
- Jan 2009to Jan 2012
- Phase
- Interventional
- 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
- Healthy volunteers accepted
- Adult, Older adult
Who may be able to join
- Man or woman > 18 years old
- With a mutation in FBN1 gene
- Has signed an informed consent form
Who cannot join
- -No affiliated to a Healthcare System.
Trial locations and contacts
1 site in 1 country.
France1 site
Centre de Reference Maladie de Marfan Et Apparente
Paris, Île-de-France Region, 75018
About this study
Official title: Correlations' Study Between Variability of Expression in FBN1 Gene and Clinical Features in Marfan Patients.
Marfan syndrome is an autosomal dominant connective tissue disorder caused by mutations in the fibrillin-1 gene (FBN1). Penetrance of FBN1 mutations is complete but intra and inter familial clinical expressivity is extremely variable. The underlying mechanisms for variability are not understood. An interesting mechanism is that the expression level of the wild type and/or mutated allele may play a role in the determination of variability.
Principal objective: To evaluate in Marfan patients, if FBN1 expression level (non-mutated or mutated allele) modulates the clinical expression of the disease.
Judgment criteria : Correlation allelic expression level-phenotype Perspectives : To search the predictive factors of severity in order to ameliorate precocity of taking care.
Read the detailed description
Marfan syndrome is an autosomal dominant connective tissue disorder caused by mutations in the fibrillin-1 gene (FBN1). Penetrance of FBN1 mutations is complete but intra and inter familial clinical expressivity is extremely variable. The underlying mechanisms for variability are not understood. An interesting mechanism is that the expression level of the wild type and/or mutated allele may play a role in the determination of variability.
Principal objective : To evaluate in Marfan patients, if FBN1 expression level (non-mutated or mutated allele) modulates the clinical expression of the disease in individuals from families with clinical variability (intrafamilial) and in independant probands (interfamilial).
Judgment criteria : Correlation allelic expression level-phenotype Method : In Marfan patients with a FBN1 nul allele, FBN1 RNA will be extracted from a fibroblast culture. Allelic FBN1 expression level will be performed by quantitative RT-PCR and then compared with clinical evaluation.
Number of subjects : 160 subjects, 45 Marfan patients in 15 independent families, 5 patients with the same mutation, 30 with a private mutation leading to a nul allele and 80 non Marfan subjects.
Perspectives : To search the predictive factors of severity in order to ameliorate precocity of taking care.
- Conditions
- Marfan Syndrome
- Being tested
- skin punch biopsy and molecular biology, fibroblast culture and molecular biology
- Keywords
- Marfan syndrome, Variability, Fibrillin 1, clinical expression
- Medical subject headings
- Marfan Syndrome, Arachnodactyly
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
skin punch biopsy and molecular biologyProcedure or surgery
fibroblast culture and molecular biologyOther
| Study group | Role | What they receive |
|---|---|---|
| Marfan patients | Other | Study participants were recruited between 11/2009 and 10/2011, among adult patients consulting in the Multidisciplinary Marfan Clinic of our University Hospital, and having a known mutation in the FBN1 gene. There, patients are evaluated by geneticists, rheumatologists, cardiologists, and ophthalmologists. Systematic slit-lamp examination, cardiac ultrasonography, and radiological investigations are also performed. A skin punch biopsy was used to establish a fibroblast cell culture. We determined mRNA levels for FBN1 and compared it to the clinical involvement. Receives: Procedure: skin punch biopsy and molecular biology |
| control patients | Other | Fibroblasts were obtained from non Marfan patients (cell bank). We determineed mRNA level for FBN1 for each allele. Receives: Other: fibroblast culture and molecular biology |
What is being measured
The primary outcome is the main question the study is designed to answer.
FBN1 expression level
Evaluation in Marfan patients, of FBN1 expression level (non-mutated or mutated allele) compared to the clinical expression of the disease in idividuals
Measured: 6 months
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted16 Oct 2012 (estimated)
- Study startJan 2009
- Primary completionJun 2011
- Study completionJan 2012
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Other trials for Marfan SyndromeStudies 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
- Interventional
- Phase
- Phase N/A
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Factorial
- Masking
- None (open label)
- Enrolment
- 160 participants (actual)
Sponsor and investigators
- Lead sponsor
- Assistance Publique - Hôpitaux de Paris
- Sponsor type
- University, hospital or other
- Collaborators
- Hospices Civils de Lyon, Banque de cellules cochin
- Responsible party
- Sponsor
- Investigators
- Chantal Stheneur, PHD, MD, Principal investigator, Hôpital Bichat, AP-HP
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT01707563
- Sponsor's protocol ID
- P071009
- Acronym
- Variarfan
- Status last verified
- Dec 2010
- First submitted
- 12 Oct 2012
- Last updated
- 6 Nov 2014
- Results posted
- No
- Data monitoring committee
- No
Study at a glance
From the registry record, last updated by the sponsor on 6 Nov 2014. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Correlations' Study Between Variability of Expression in FBN1 Gene and Clinical Features in Marfan Patients.
- ClinicalTrials.gov ID
- NCT01707563
- Acronym / sponsor ID
- Variarfan / P071009
- Conditions
- Marfan Syndrome
- Keywords
- Marfan syndrome, Variability, Fibrillin 1, clinical expression
- Study type
- Interventional
- Recruitment status
- Completed
- Enrolment
- 160 participants (actual)
- Lead sponsor
- Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
- Collaborators
- Hospices Civils de Lyon, Banque de cellules cochin
- Study start
- Jan 2009
- Primary completion
- Jun 2011 (actual)
- Study completion
- Jan 2012 (actual)
- First posted
- 16 Oct 2012 (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.
Marfan syndrome is an autosomal dominant connective tissue disorder caused by mutations in the fibrillin-1 gene (FBN1). Penetrance of FBN1 mutations is complete but intra and inter familial clinical expressivity is extremely variable. The underlying mechanisms for variability are not understood. An interesting mechanism is that the expression level of the wild type and/or mutated allele may play a role in the determination of variability.
Principal objective: To evaluate in Marfan patients, if FBN1 expression level (non-mutated or mutated allele) modulates the clinical expression of the disease.
Judgment criteria : Correlation allelic expression level-phenotype Perspectives : To search the predictive factors of severity in order to ameliorate precocity of taking care.
Detailed description
Marfan syndrome is an autosomal dominant connective tissue disorder caused by mutations in the fibrillin-1 gene (FBN1). Penetrance of FBN1 mutations is complete but intra and inter familial clinical expressivity is extremely variable. The underlying mechanisms for variability are not understood. An interesting mechanism is that the expression level of the wild type and/or mutated allele may play a role in the determination of variability.
Principal objective : To evaluate in Marfan patients, if FBN1 expression level (non-mutated or mutated allele) modulates the clinical expression of the disease in individuals from families with clinical variability (intrafamilial) and in independant probands (interfamilial).
Judgment criteria : Correlation allelic expression level-phenotype Method : In Marfan patients with a FBN1 nul allele, FBN1 RNA will be extracted from a fibroblast culture. Allelic FBN1 expression level will be performed by quantitative RT-PCR and then compared with clinical evaluation.
Number of subjects : 160 subjects, 45 Marfan patients in 15 independent families, 5 patients with the same mutation, 30 with a private mutation leading to a nul allele and 80 non Marfan subjects.
Perspectives : To search the predictive factors of severity in order to ameliorate precocity of taking care.
Study design
- Primary purpose
- Basic science
- Allocation
- Non-randomised
- Intervention model
- Factorial
- Masking
- None (open label)
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Marfan patients | Other | Procedure: skin punch biopsy and molecular biologyStudy participants were recruited between 11/2009 and 10/2011, among adult patients consulting in the Multidisciplinary Marfan Clinic of our University Hospital, and having a known mutation in the FBN1 gene. There, patients are evaluated by geneticists, rheumatologists, cardiologists, and ophthalmologists. Systematic slit-lamp examination, cardiac ultrasonography, and radiological investigations are also performed. A skin punch biopsy was used to establish a fibroblast cell culture. We determined mRNA levels for FBN1 and compared it to the clinical involvement. |
| control patients | Other | Other: fibroblast culture and molecular biologyFibroblasts were obtained from non Marfan patients (cell bank). We determineed mRNA level for FBN1 for each allele. |
Who may qualify
- Ages
- 18 years and older
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Adult, Older adult
Key inclusion criteria (3 listed)
- Man or woman > 18 years old
- With a mutation in FBN1 gene
- Has signed an informed consent form
Key exclusion criteria (1 listed)
- -No affiliated to a Healthcare System.
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 |
|---|---|---|
| skin punch biopsy and molecular biology | Procedure or surgery | Marfan patients |
| fibroblast culture and molecular biology | Other | control patients |
Primary outcome
FBN1 expression level
Time frame: 6 months
Evaluation in Marfan patients, of FBN1 expression level (non-mutated or mutated allele) compared to the clinical expression of the disease in idividuals
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 6 Nov 2014.
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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.
Chantal Stheneur, PHD, MD principal investigator
Hôpital Bichat, AP-HP
1 site in 1 country: see every site and its status.
Questions about this trial
What is this clinical trial studying?
A study testing skin punch biopsy and molecular biology and fibroblast culture and molecular biology in people with Marfan Syndrome, 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 3 inclusion and 1 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 6 Nov 2014. 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?
FBN1 expression level (time frame: 6 months). 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 6 Nov 2014.