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| ID | Type | Description | Link |
|---|---|---|---|
| 2021-A00654-37 | Other Identifier | France : Ministry of Health |
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| Name | Class |
|---|---|
| URC-CIC Paris Descartes Necker Cochin | OTHER |
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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| 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) |
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| 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) |
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Questionnaire | Other | Questionnaire |
|
| Measure | Description | Time Frame |
|---|---|---|
| Frequency of spinal symptoms | Frequency of spinal symptoms between Marfan patients with dural ectasia (cases) and those without (controls) :
| Inclusion |
| Measure | Description | Time Frame |
|---|---|---|
| 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) | Inclusion |
| Self-administered digital scale (0 = no pain and 100 = maximum pain) |
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Inclusion Criteria:
Exclusion Criteria:
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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.
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| Name | Affiliation | Role |
|---|---|---|
| Christelle NGUYEN, Dr | Rehabilitation Service of the Musculoskeletal System and Spine Pathologies - Cochin Hospital - Paris | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| CNMR Bichat | Paris | IDF | 75018 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 30998996 | Background | 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. | |
| 30371622 | Background | 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. |
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| ID | Term |
|---|---|
| D008382 | Marfan Syndrome |
| D054119 | Arachnodactyly |
| D012816 | Signs and Symptoms |
| D019585 | Intracranial Hypotension |
| D017116 | Low Back Pain |
| ID | Term |
|---|---|
| D001848 | Bone Diseases, Developmental |
| D001847 | Bone Diseases |
| D009140 | Musculoskeletal Diseases |
| D006330 | Heart Defects, Congenital |
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| ID | Term |
|---|---|
| D011795 | Surveys and Questionnaires |
| ID | Term |
|---|---|
| D003625 | Data Collection |
| D004812 | Epidemiologic Methods |
| D008919 | Investigative Techniques |
| D017531 | Health Care Evaluation Mechanisms |
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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) |
| 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) | 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 ) | 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) | Inclusion |
| 15690402 | Background | 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. |
| 21962385 | Background | 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. |
| 40450135 | Result | 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. |
| D018376 | Cardiovascular Abnormalities |
| D002318 | Cardiovascular Diseases |
| D006331 | Heart Diseases |
| D000015 | Abnormalities, Multiple |
| D000013 | Congenital Abnormalities |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D030342 | Genetic Diseases, Inborn |
| D003240 | Connective Tissue Diseases |
| D017437 | Skin and Connective Tissue Diseases |
| D017880 | Limb Deformities, Congenital |
| D009139 | Musculoskeletal Abnormalities |
| D013568 | Pathological Conditions, Signs and Symptoms |
| D001927 | Brain Diseases |
| D002493 | Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D001416 | Back Pain |
| D010146 | Pain |
| D009461 | Neurologic Manifestations |
| D011787 | Quality of Health Care |
| D017530 | Health Care Quality, Access, and Evaluation |
| D011634 | Public Health |
| D004778 | Environment and Public Health |