An observational study in Marfan Syndrome, sponsored by Assistance Publique - Hôpitaux de Paris. Completed at 1 site in France. Open to participants aged 18 Years to 55 Years. Per ClinicalTrials.gov, last updated 2025-09-12.
Sponsored by Assistance Publique - Hôpitaux de Paris · Observational
Primary outcome is to compare the frequency and clinical features of spinal symptoms between Marfan patients with dural ectasia (cases) and those without (controls).
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).
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.
71 studies on the registry are indexed under Marfan Syndrome; 16 are open to participants now.
This study's enrollment of 90 is below the median of 119 across 40 observational studies indexed under Marfan Syndrome.
Browse Marfan Syndrome studies →Assistance Publique - Hôpitaux de Paris is the lead sponsor of 3,505 studies on the registry; 1,006 are open to participants now.
Counted across the registry records on this site, refreshed daily.
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.
Exclusion Criteria:
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)
Other: Questionnaire
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)
Other: Questionnaire
Questionnaire
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
Time frame: Inclusion
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)
Time frame: 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)
Time frame: 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)
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 )
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 )
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 )
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)
Time frame: Inclusion
Plan to share: No
This study is completed, as verified in Sep 2025. You cannot join it, but the record below documents what was studied.
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Assistance Publique - Hôpitaux de Paris