Marfan SyndromeNCT04319107
Classifying Ectopia Lentis in Marfan Syndrome Into Five Grades of Increasing Severity
An observational study of Marfan Syndrome and Ectopia Lentis, run by Hospices Civils de Lyon at 1 site in France.
Trial summary
Marfan syndrome is characterized by musculoskeletal manifestations, cardiovascular disease and ocular abnormalities, particularly ectopia lentis. Diagnosis depends on clinical evaluation, family history and molecular data: mutation in the fibrillin-1 gene (FBN1). Read more about this study
- Who is it for?
- Any ageHealthy volunteers can take part
- Conditions the study is for
- Marfan Syndrome, Ectopia Lentis
- What is being tested?
- ophthalmological examinations using a slit lamp bio microscopy and a three-mirror lens, standard procedure.
- How many people
- 110 participants
- Where
- 1 siteFrance
- Study dates
- 1 Jan 2000to 31 Dec 2013
- 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 Any age
- All sexes
- Healthy volunteers accepted
- Child, Adult, Older adult
Study population: MFS patient or Relatives of MFS patients
Who may be able to join
- MFS patient, clinical diagnosis according to revised Ghent criteria, confirmed by FBN1 mutation.
- Relatives of MFS patients with none of the clinical features of MFS and in whom testing for the familial FBN1 mutation was negative.
Who cannot join
- Patients who had surgery for ectopia lentis
- Patients for whom dilation was not optimal.
Trial locations and contacts
1 site in 1 country.
About this study
Marfan syndrome is characterized by musculoskeletal manifestations, cardiovascular disease and ocular abnormalities, particularly ectopia lentis. Diagnosis depends on clinical evaluation, family history and molecular data: mutation in the fibrillin-1 gene (FBN1). Ectopia lentis is the most common ocular manifestation in Marfan syndrome with FBN1 mutation and is relatively specific to this disease when associated with other features. However, clinical examinations for identifying ectopia lentis have not really been codified. The purpose of this study is to describe a 5-grade classification of increasing severity for ectopia lentis based on clinical examination and to evaluate the predictive value for the early grades of ectopia lentis in order to help characterize this major clinical diagnosis criterion.
- Conditions
- Marfan Syndrome, Ectopia Lentis
- Being tested
- ophthalmological examinations using a slit lamp bio microscopy and a three-mirror lens, standard procedure.
- Medical subject headings
- Marfan Syndrome, Ectopia Lentis
What participants receive
What participants receive. In a randomised study each person is assigned to one group by chance.
ophthalmological examinations using a slit lamp bio microscopy and a three-mirror lens, standard procedure.Other
Pupillary dilatation was performed with instillation of tropicamide and phenylephrine. The ophthalmological examination included visual acuity measurement, using a slit lamp biomicroscopy to analyse the anterior segment and a three mirror lens to appreciate the quality of the dilation validated by the absence of pupillary reflex and to search for ectopia lentis. Ectopia Lentis grade is evaluated according to the 5-grade classification.
| Study group | Role | What they receive |
|---|---|---|
| Marfan Syndrome (MFS) patients | Patients who had a clinical diagnosis of MFS according to the revised Ghent criteria (ectopia lentis was not taken into account for the diagnosis), confirmed by FBN1 sequencing. Receives: Other: ophthalmological examinations using a slit lamp bio microscopy and a three-mirror lens, standard procedure. | |
| Control patients | Relatives of MFS patients with none of the clinical features of MFS and in whom testing for the familial FBN1 mutation was negative. Receives: Other: ophthalmological examinations using a slit lamp bio microscopy and a three-mirror lens, standard procedure. |
What is being measured
The primary outcome is the main question the study is designed to answer.
Ectopia lentis measurement
Ectopia lentis measurement and classification into 5-stages. Evaluation of the predictive value of ectopia lentis, at early stages, in order to help characterize this major clinical diagnosis criteria.
Measured: day 0
Timeline
From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.
- First posted24 Mar 2020
- Study start1 Jan 2000
- Primary completion31 Dec 2013
- Study completion31 Dec 2013
Resources
- Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
- Publications (1)Papers the sponsor has linked to this study.
- Other trials for Marfan SyndromeStudies of the same condition, open and under way.
- More trials run by Hospices Civils de LyonThe 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
- Cohort
- Time perspective
- Prospective
- Enrolment
- 110 participants (actual)
Sponsor and investigators
- Lead sponsor
- Hospices Civils de Lyon
- Sponsor type
- University, hospital or other
- Responsible party
- Sponsor
- Investigators
- Audrey Putoux, MD, Principal investigator, Hospices Civils de Lyon
IDs, dates and publications
- ClinicalTrials.gov ID
- NCT04319107
- Sponsor's protocol ID
- MARFAN_2020
- Status last verified
- Mar 2020
- First submitted
- 20 Mar 2020
- Last updated
- 27 Mar 2020
- Results posted
- No
- Data monitoring committee
- No
- FDA-regulated drug
- No
- FDA-regulated device
- No
- Individual data sharing
- Undecided
Publications
Zech JC, Putoux A, Decullier E, Fargeton AE, Edery P, Plauchu H, Dupuis-Girod S. Classifying Ectopia Lentis in Marfan Syndrome into Five Grades of Increasing Severity. J Clin Med. 2020 Mar 6;9(3):721. doi: 10.3390/jcm9030721.
PubMed 32155956
Study at a glance
From the registry record, last updated by the sponsor on 27 Mar 2020. Recruitment status is as the sponsor reported it: confirm with the study team.
- Official title
- Classifying Ectopia Lentis in Marfan Syndrome Into Five Grades of Increasing Severity
- ClinicalTrials.gov ID
- NCT04319107
- Acronym / sponsor ID
- MARFAN_2020
- Conditions
- Marfan Syndrome, Ectopia Lentis
- Study type
- Observational
- Recruitment status
- Completed
- Enrolment
- 110 participants (actual)
- Lead sponsor
- Hospices Civils de LyonUniversity, hospital or other
- Study start
- 1 Jan 2000 (actual)
- Primary completion
- 31 Dec 2013 (actual)
- Study completion
- 31 Dec 2013 (actual)
- First posted
- 24 Mar 2020 (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.
Marfan syndrome is characterized by musculoskeletal manifestations, cardiovascular disease and ocular abnormalities, particularly ectopia lentis. Diagnosis depends on clinical evaluation, family history and molecular data: mutation in the fibrillin-1 gene (FBN1). Ectopia lentis is the most common ocular manifestation in Marfan syndrome with FBN1 mutation and is relatively specific to this disease when associated with other features. However, clinical examinations for identifying ectopia lentis have not really been codified. The purpose of this study is to describe a 5-grade classification of increasing severity for ectopia lentis based on clinical examination and to evaluate the predictive value for the early grades of ectopia lentis in order to help characterize this major clinical diagnosis criterion.
Study design
- Observational model
- Cohort
- Time perspective
- Prospective
- Number of arms
- 2
| Arm | Type | Receives |
|---|---|---|
| Marfan Syndrome (MFS) patients | – | Other: ophthalmological examinations using a slit lamp bio microscopy and a three-mirror lens, standard procedure.Patients who had a clinical diagnosis of MFS according to the revised Ghent criteria (ectopia lentis was not taken into account for the diagnosis), confirmed by FBN1 sequencing. |
| Control patients | – | Other: ophthalmological examinations using a slit lamp bio microscopy and a three-mirror lens, standard procedure.Relatives of MFS patients with none of the clinical features of MFS and in whom testing for the familial FBN1 mutation was negative. |
Who may qualify
- Sex
- All
- Healthy volunteers
- Accepted
- Age groups
- Child, Adult, Older adult
- Study population
- MFS patient or Relatives of MFS patients
Key inclusion criteria (2 listed)
- MFS patient, clinical diagnosis according to revised Ghent criteria, confirmed by FBN1 mutation.
- Relatives of MFS patients with none of the clinical features of MFS and in whom testing for the familial FBN1 mutation was negative.
Key exclusion criteria (2 listed)
- Patients who had surgery for ectopia lentis
- Patients for whom dilation was not optimal.
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 |
|---|---|---|
| ophthalmological examinations using a slit lamp bio microscopy and a three-mirror lens, standard procedure.Pupillary dilatation was performed with instillation of tropicamide and phenylephrine. The ophthalmological examination included visual acuity measurement, using a slit lamp biomicroscopy to analyse the anterior segment and a three mirror lens to appreciate the quality of the dilation validated by the absence of pupillary reflex and to search for ectopia lentis. Ectopia Lentis grade is evaluated according to the 5-grade classification. | Other | Control patients, Marfan Syndrome (MFS) patients |
Primary outcome
Ectopia lentis measurement
Time frame: day 0
Ectopia lentis measurement and classification into 5-stages. Evaluation of the predictive value of ectopia lentis, at early stages, in order to help characterize this major clinical diagnosis criteria.
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 27 Mar 2020.
- Background: PubMed 32155956Zech JC, Putoux A, Decullier E, Fargeton AE, Edery P, Plauchu H, Dupuis-Girod S. Classifying Ectopia Lentis in Marfan Syndrome into Five Grades of Increasing Severity. J Clin Med. 2020 Mar 6;9(3):721. doi: 10.3390/jcm9030721.
- Individual participant dataSharing planned: Undecided
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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.
Audrey Putoux, MD principal investigator
Hospices Civils de Lyon
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 Marfan Syndrome and Ectopia Lentis, run by Hospices Civils de Lyon 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 2 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 27 Mar 2020. 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?
Ectopia lentis measurement (time frame: day 0). 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 NCT04319107, which also lists 1 linked publication.
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 27 Mar 2020.