Marfan SyndromeMARFANLOMBNCT05123339

Clinical Signs and Activity Limitations Associated With Dural Ectasia in Patients With Marfan Disease

An observational study of Marfan Syndrome, run by Assistance Publique - Hôpitaux de Paris at 1 site in France.

Completed

Finished. The study has ended and is not enrolling. Results may be posted on the official record.

Trial summary

Primary outcome is to compare the frequency and clinical features of spinal symptoms between Marfan patients with dural ectasia (cases) and those without (controls). 1. / Frequency of orthostatic headaches 2. / Frequency of low back pain due to orthostasis 3. / Frequency of low back pain during Vasalva maneuvers 4. Read more about this study

Who is it for?: Ages 18 to 55 years
Conditions the study is for: Marfan Syndrome
What is being tested?: Questionnaire
How many people: 90 participants
Where: 1 siteFrance
Study dates: 11 Feb 2022to 12 Sep 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 18 to 55 years
All sexes
No healthy volunteers
Adult

Study population: Patients screened and selected at the CNMR at Bichat Hospital will receive a letter containing the information note and a self-questionnaire to complete. Patients can reach Dr Troussier by phone or email to ask any questions. Patients will return a copy of the completed briefing note and self-questionnaire by post. In the event of the presence of dural sac ectasia, patients will also be asked to send in the reply letter a copy of an imaging report, MRI or lumbar CT or TAP, or failing that an account- medical report mentioning this presence.

Who may be able to join

Marfan disease according to the Ghent criteria revised in 2010
Patients followed at the CNMR in Bichat
Adults ≥18 years old and ≤ 55 years old (to limit the incidence of degenerative lumbar pathologies)
Patient not opposing the research
Mastery of the French language

Who cannot join

History of lumbar surgery <1 year
Specific pathologies of the spine (tumor, infection, trauma, fracture, inflammatory rheumatism)
Inability to write, read or speak French
Cognitive or behavioral problems making assessment impossible
Patients receiving AME
Patients under tutorship or curatorship

Trial locations and contacts

1 site in 1 country.

France1 site

CNMR Bichat
Paris, IDF, 75018

Other trials in France

About this study

Official title: Clinical Signs and Activity Limitations Associated With Dural Ectasia in Patients With Marfan Disease: Cross-sectional Case-control Study.

Primary outcome is to compare the frequency and clinical features of spinal symptoms between Marfan patients with dural ectasia (cases) and those without (controls).

/ Frequency of orthostatic headaches
/ Frequency of low back pain due to orthostasis
/ Frequency of low back pain during Vasalva maneuvers
/ Frequency of lumbar claudication
/ Frequency of root claudication

Secondary outcomes are to compare activity limitations, quality of life and intensity of low back and radicular pain between Marfan patients with dural sac ectasia (cases) and those without (controls).

/ Average intensity of back pain measured on a self-administered digital scale (0 = no pain and 100 = maximum pain)
/ Average intensity of radicular pain measured on a self-administered digital scale (0 = no pain and 100 = maximum pain)
/ Activity limitations specific to the lumbar spine measured using the self-administered Oswestry Disability Index questionnaire (ODI, 0 = no limitations and 100 = maximum limitations)
/ Physical component of quality of life measured using the physical component of the self-administered questionnaire 12-Item Short Form Health Survey (SF-12, 9.95 = worst quality of life imaginable, 70.02 = worst quality of life imaginable )
/ Mental component of the quality of life measured using the mental component of the SF-12 self-administered questionnaire (5.89 = worst quality of life imaginable, 71.97 = worst quality of life imaginable)

Read the detailed description

Marfan's disease is a rare condition. Clinical phenotypes are heterogeneous. Among the abnormalities of the spine, dural ectasia is common with a prevalence of 66%. This is a major sign of Ghent's diagnostic criteria. To our knowledge, the clinical and functional signs associated with dural sac ectasia have never been described with precision. Only a few uncontrolled case series have been published. This is the case of the study by Foran and colleagues published in the American Journal of Genetics in 2005 which included 22 patients with Marfan disease with dural ectasia questioned about their symptoms and quality of life. We hypothesize the existence of a clinical and functional spinal phenotype specific to dural ectasia in patients with Marfan disease.

Conditions: Marfan Syndrome
Being tested: Questionnaire
Keywords: Marfan's disease, Dural ectasia, Clinical signs, Intracranial hypotension, Low back pain, Activity limitation
Medical subject headings: Marfan Syndrome, Arachnodactyly, Signs and Symptoms, Intracranial Hypotension, Low Back Pain

What participants receive

What participants receive. In a randomised study each person is assigned to one group by chance.

QuestionnaireOther
Questionnaire

Study groups in NCT05123339
Study group	Role	What they receive
Case group		Marfan disease according to Ghent criteria revised in 2010 with dural ectasia Patients followed at the CNMR in Bichat Adults ≥18 years old and ≤ 55 years old (to limit the incidence of degenerative lumbar pathologies) No history of lumbar surgery <1 year and without specific pathologies of the spine (tumor, infection, trauma, fracture, inflammatory rheumatism) Receives: Other: Questionnaire
Control group		Marfan disease according to Ghent criteria revised in 2010 without dural ectasia Patients followed at the CNMR in Bichat Adults ≥18 years old and ≤ 55 years old (to limit the incidence of degenerative lumbar pathologies) No history of lumbar surgery <1 year and without specific pathologies of the spine (tumor, infection, trauma, fracture, inflammatory rheumatism) Receives: Other: Questionnaire

What is being measured

The primary outcome is the main question the study is designed to answer.

Frequency of spinal symptoms
Frequency of spinal symptoms between Marfan patients with dural ectasia (cases) and those without (controls) :
1. / Frequency of orthostatic headaches
2. / Frequency of low back pain due to orthostasis
3. / Frequency of low back pain during Vasalva maneuvers
4. / Frequency of lumbar claudication
5. / Frequency of root claudication
Measured: Inclusion

Secondary outcomes (5)

Self-administered digital scale (0 = no pain and 100 = maximum pain)
Intensity of low back pain between Marfan patients with dural ectasia (cases) and those without (controls) : average intensity of back pain measured on a self-administered digital scale (0 = no pain and 100 = maximum pain)
Measured: Inclusion
Self-administered digital scale (0 = no pain and 100 = maximum pain)
Intensity of radicular pain between Marfan patients with dural ectasia (cases) and those without (controls) : average intensity of radicular pain measured on a self-administered digital scale (0 = no pain and 100 = maximum pain)
Measured: Inclusion
Oswestry Disability Index questionnaire (ODI, 0 = no limitations and 100 = maximum limitations)
Limitations between Marfan patients with dural ectasia (cases) and those without (controls) : activity limitations specific to the lumbar spine measured using the self-administered Oswestry Disability Index questionnaire (ODI, 0 = no limitations and 100 = maximum limitations)
Measured: Inclusion
12-Item Short Form Health Survey (SF-12, 9.95 = worst quality of life imaginable, 70.02 = worst quality of life imaginable )
Quality of life between Marfan patients with dural ectasia (cases) and those without (controls) : physical component of quality of life measured using the physical component of the self-administered questionnaire 12-Item Short Form Health Survey (SF-12, 9.95 = worst quality of life imaginable, 70.02 = worst quality of life imaginable )
Measured: Inclusion
12-Item Short Form Health Survey (SF-12, 9.95 = worst quality of life imaginable, 70.02 = worst quality of life imaginable )
Quality of life between Marfan patients with dural ectasia (cases) and those without (controls) : mental component of the quality of life measured using the mental component of the SF-12 self-administered questionnaire (5.89 = worst quality of life imaginable, 71.97 = worst quality of life imaginable)
Measured: Inclusion

Timeline

From the start of the study to its completion; the mark is today. Estimated dates are the sponsor’s plan.

11 Feb 202212 Sep 2022

First posted17 Nov 2021
Study start11 Feb 2022
Primary completion12 Sep 2022
Study completion12 Sep 2022

Resources

Official record on ClinicalTrials.govThe registry entry this page is built from, with its full change history.
Publications (5)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 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: Case-control
Time perspective: Cross-sectional
Enrolment: 90 participants (actual)

IDs, dates and publications

ClinicalTrials.gov ID: NCT05123339
Sponsor's protocol ID: APHP211106
Other IDs: 2021-A00654-37
Acronym: MARFANLOMB
Status last verified: Sep 2025
First submitted: 15 Nov 2021
Last updated: 12 Sep 2025
Results posted: No
Data monitoring committee: No
FDA-regulated drug: No
FDA-regulated device: No
Individual data sharing: No

Publications

Boker T, Vanem TT, Pripp AH, Rand-Hendriksen S, Paus B, Smith HJ, Lundby R. Dural ectasia in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up study. Spine J. 2019 Aug;19(8):1412-1421. doi: 10.1016/j.spinee.2019.04.010. Epub 2019 Apr 15.
PubMed 30998996
Chuzel Q, Dupuis-Girod S, Rousset M, Decharry C, Decullier E, Pialat JB. Assessment of Dural Ectasia Using Computed Tomodensitometry as a Criterion in Marfan Syndrome. J Comput Assist Tomogr. 2019 Mar/Apr;43(2):282-287. doi: 10.1097/RCT.0000000000000822.
PubMed 30371622
Foran JR, Pyeritz RE, Dietz HC, Sponseller PD. Characterization of the symptoms associated with dural ectasia in the Marfan patient. Am J Med Genet A. 2005 Apr 1;134A(1):58-65. doi: 10.1002/ajmg.a.30525.
PubMed 15690402
Nguyen C, Papelard A, Schnitzler A, Mangione P, Poiraudeau S, Rannou F. Congenital lumbar spinal stenosis associated with Marfan syndrome. Joint Bone Spine. 2012 Mar;79(2):199-200. doi: 10.1016/j.jbspin.2011.07.007. Epub 2011 Oct 1. No abstract available.
PubMed 21962385
Troussier S, Milleron O, Rannou F, Eliahou L, Jondeau G, Nguyen C. Painful symptoms and spine-specific activity limitations associated with dural ectasia in individuals with Marfan syndrome: a cross-sectional comparative study (MARFANLOMB). Eur Spine J. 2025 Aug;34(8):3087-3094. doi: 10.1007/s00586-025-08911-z. Epub 2025 May 31.
PubMed 40450135

Want to know more?

The sponsor has not listed a contact. The official record may have more details.

Talk to your doctor first and take this page with you. Only the study team can confirm whether you can join.

Questions to ask the study team

What is the study trying to find out?
What would I need to do, and how often would I visit?
Could I receive a placebo instead of the treatment?
What are the possible risks and benefits for me?
Will it cost me anything? Are travel or time paid for?
Can I keep seeing my own doctor during the study?
What happens when the study ends?

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All Marfan Syndrome trials

Study at a glance

From the registry record, last updated by the sponsor on 12 Sep 2025. Recruitment status is as the sponsor reported it: confirm with the study team.

Official title: Clinical Signs and Activity Limitations Associated With Dural Ectasia in Patients With Marfan Disease: Cross-sectional Case-control Study.
ClinicalTrials.gov ID: NCT05123339
Acronym / sponsor ID: MARFANLOMB / APHP211106
Conditions: Marfan Syndrome
Keywords: Marfan's disease, Dural ectasia, Clinical signs, Intracranial hypotension, Low back pain, Activity limitation
Study type: Observational
Recruitment status: Completed
Enrolment: 90 participants (actual)
Lead sponsor: Assistance Publique - Hôpitaux de ParisUniversity, hospital or other
Collaborators: URC-CIC Paris Descartes Necker Cochin
Study start: 11 Feb 2022 (actual)
Primary completion: 12 Sep 2022 (actual)
Study completion: 12 Sep 2022 (actual)
First posted: 17 Nov 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.

Primary outcome is to compare the frequency and clinical features of spinal symptoms between Marfan patients with dural ectasia (cases) and those without (controls).

/ Frequency of orthostatic headaches
/ Frequency of low back pain due to orthostasis
/ Frequency of low back pain during Vasalva maneuvers
/ Frequency of lumbar claudication
/ Frequency of root claudication

/ Average intensity of back pain measured on a self-administered digital scale (0 = no pain and 100 = maximum pain)
/ Average intensity of radicular pain measured on a self-administered digital scale (0 = no pain and 100 = maximum pain)
/ Activity limitations specific to the lumbar spine measured using the self-administered Oswestry Disability Index questionnaire (ODI, 0 = no limitations and 100 = maximum limitations)
/ Physical component of quality of life measured using the physical component of the self-administered questionnaire 12-Item Short Form Health Survey (SF-12, 9.95 = worst quality of life imaginable, 70.02 = worst quality of life imaginable )
/ Mental component of the quality of life measured using the mental component of the SF-12 self-administered questionnaire (5.89 = worst quality of life imaginable, 71.97 = worst quality of life imaginable)

Detailed description

Study design

Observational model: Case-control
Time perspective: Cross-sectional
Number of arms: 2

Arm	Type	Receives
Case group	–	Other: QuestionnaireMarfan disease according to Ghent criteria revised in 2010 with dural ectasia Patients followed at the CNMR in Bichat Adults ≥18 years old and ≤ 55 years old (to limit the incidence of degenerative lumbar pathologies) No history of lumbar surgery <1 year and without specific pathologies of the spine (tumor, infection, trauma, fracture, inflammatory rheumatism)
Control group	–	Other: QuestionnaireMarfan disease according to Ghent criteria revised in 2010 without dural ectasia Patients followed at the CNMR in Bichat Adults ≥18 years old and ≤ 55 years old (to limit the incidence of degenerative lumbar pathologies) No history of lumbar surgery <1 year and without specific pathologies of the spine (tumor, infection, trauma, fracture, inflammatory rheumatism)

Who may qualify

Ages: 18 to 55 years
Sex: All
Healthy volunteers: Not accepted
Age groups: Adult
Study population: Patients screened and selected at the CNMR at Bichat Hospital will receive a letter containing the information note and a self-questionnaire to complete. Patients can reach Dr Troussier by phone or email to ask any questions. Patients will return a copy of the completed briefing note and self-questionnaire by post. In the event of the presence of dural sac ectasia, patients will also be asked to send in the reply letter a copy of an imaging report, MRI or lumbar CT or TAP, or failing that an account- medical report mentioning this presence.

Key inclusion criteria (5 listed)

Marfan disease according to the Ghent criteria revised in 2010
Patients followed at the CNMR in Bichat
Adults ≥18 years old and ≤ 55 years old (to limit the incidence of degenerative lumbar pathologies)
Patient not opposing the research
Mastery of the French language

Key exclusion criteria (6 listed)

History of lumbar surgery <1 year
Specific pathologies of the spine (tumor, infection, trauma, fracture, inflammatory rheumatism)
Inability to write, read or speak French
Cognitive or behavioral problems making assessment impossible
Patients receiving AME

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
QuestionnaireQuestionnaire	Other	Case group, Control group

Primary outcome

Frequency of spinal symptoms
Time frame: Inclusion
Frequency of spinal symptoms between Marfan patients with dural ectasia (cases) and those without (controls) : 1. / Frequency of orthostatic headaches 2. / Frequency of low back pain due to orthostasis 3. / Frequency of low back pain during Vasalva maneuvers 4. / Frequency of lumbar claudication 5. / Frequency of root claudication

5 secondary outcomes

Self-administered digital scale (0 = no pain and 100 = maximum pain)
Time frame: Inclusion
Self-administered digital scale (0 = no pain and 100 = maximum pain)
Time frame: Inclusion
Oswestry Disability Index questionnaire (ODI, 0 = no limitations and 100 = maximum limitations)
Time frame: Inclusion
12-Item Short Form Health Survey (SF-12, 9.95 = worst quality of life imaginable, 70.02 = worst quality of life imaginable )
Time frame: Inclusion
12-Item Short Form Health Survey (SF-12, 9.95 = worst quality of life imaginable, 70.02 = worst quality of life imaginable )
Time frame: Inclusion

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 12 Sep 2025.
Background: PubMed 30998996Boker T, Vanem TT, Pripp AH, Rand-Hendriksen S, Paus B, Smith HJ, Lundby R. Dural ectasia in Marfan syndrome and other hereditary connective tissue disorders: a 10-year follow-up study. Spine J. 2019 Aug;19(8):1412-1421. doi: 10.1016/j.spinee.2019.04.010. Epub 2019 Apr 15.
Background: PubMed 30371622Chuzel Q, Dupuis-Girod S, Rousset M, Decharry C, Decullier E, Pialat JB. Assessment of Dural Ectasia Using Computed Tomodensitometry as a Criterion in Marfan Syndrome. J Comput Assist Tomogr. 2019 Mar/Apr;43(2):282-287. doi: 10.1097/RCT.0000000000000822.
Background: PubMed 15690402Foran JR, Pyeritz RE, Dietz HC, Sponseller PD. Characterization of the symptoms associated with dural ectasia in the Marfan patient. Am J Med Genet A. 2005 Apr 1;134A(1):58-65. doi: 10.1002/ajmg.a.30525.
Background: PubMed 21962385Nguyen C, Papelard A, Schnitzler A, Mangione P, Poiraudeau S, Rannou F. Congenital lumbar spinal stenosis associated with Marfan syndrome. Joint Bone Spine. 2012 Mar;79(2):199-200. doi: 10.1016/j.jbspin.2011.07.007. Epub 2011 Oct 1. No abstract available.
Results publication: PubMed 40450135Troussier S, Milleron O, Rannou F, Eliahou L, Jondeau G, Nguyen C. Painful symptoms and spine-specific activity limitations associated with dural ectasia in individuals with Marfan syndrome: a cross-sectional comparative study (MARFANLOMB). Eur Spine J. 2025 Aug;34(8):3087-3094. doi: 10.1007/s00586-025-08911-z. Epub 2025 May 31.
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.

Christelle NGUYEN, Dr principal investigator

Rehabilitation Service of the Musculoskeletal System and Spine Pathologies - Cochin Hospital - Paris

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, 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 5 inclusion and 6 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 12 Sep 2025. 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?

Frequency of spinal symptoms (time frame: Inclusion). 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 NCT05123339, which also lists 5 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 12 Sep 2025.