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

NCT05123339 | Completed

• 2 other identifiers: APHP2111062021-A00654-37
• Study Type: observational
• Target: 90
• Locations: 1 country
• Sites: 1

Brief 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. 1./ Frequency of orthostatic headaches
2. 2./ Frequency of low back pain due to orthostasis
3. 3./ Frequency of low back pain during Vasalva maneuvers
4. 4./ Frequency of lumbar claudication
5. 5./ Frequency of root claudication
6. 6./ Average intensity of back pain measured on a self-administered digital scale (0 = no pain and 100 = maximum pain)
7. 7./ Average intensity of radicular pain measured on a self-administered digital scale (0 = no pain and 100 = maximum pain)
8. 8./ Activity limitations specific to the lumbar spine measured using the self-administered Oswestry Disability Index questionnaire (ODI, 0 = no limitations and 100 = maximum limitations)
9. 9./ 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 )
10. 10./ 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)

Conditions

Marfan Syndrome

Keywords

Marfan's disease; Dural ectasia; Clinical signs; Intracranial hypotension; Low back pain; Activity limitation

Outcome Measures

Primary Outcomes (1)

• 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

  Inclusion

Secondary Outcomes (5)

• Self-administered digital scale (0 = no pain and 100 = maximum pain)

  Inclusion

• Self-administered digital scale (0 = no pain and 100 = maximum pain)

  Inclusion

• 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 )

  Inclusion

• 12-Item Short Form Health Survey (SF-12, 9.95 = worst quality of life imaginable, 70.02 = worst quality of life imaginable )

  Inclusion

Study Arms (2)

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)

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)

Other: Questionnaire

Interventions

Questionnaire OTHER

Questionnaire

Case group; Control group

Eligibility Criteria

• Age: 18 Years - 55 Years
• Sex: all
• Healthy Volunteers: No
• Age Groups: Adult (18-64)
• Sampling Method: Non-Probability Sample

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.

You may qualify if:

• 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

You may not qualify if:

• 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

Sponsors & Collaborators

• Assistance Publique - Hôpitaux de Paris: lead
• URC-CIC Paris Descartes Necker Cochin: collaborator

Study Sites (1)

CNMR Bichat

Paris, IDF, 75018, France

Location

Related Publications (5)

• 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.

  PMID: 30998996 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.

  PMID: 30371622 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.

  PMID: 15690402 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.

  PMID: 21962385 BACKGROUND

• 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.

  PMID: 40450135 BACKGROUND

MeSH Terms

Conditions

Marfan Syndrome; Arachnodactyly; Signs and Symptoms; Intracranial Hypotension; Low Back Pain

Interventions

Surveys and Questionnaires

Condition Hierarchy (Ancestors)

Bone Diseases, Developmental; Bone Diseases; Musculoskeletal Diseases; Heart Defects, Congenital; Cardiovascular Abnormalities; Cardiovascular Diseases; Heart Diseases; Abnormalities, Multiple; Congenital Abnormalities; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Genetic Diseases, Inborn; Connective Tissue Diseases; Skin and Connective Tissue Diseases; Limb Deformities, Congenital; Musculoskeletal Abnormalities; Pathological Conditions, Signs and Symptoms; Brain Diseases; Central Nervous System Diseases; Nervous System Diseases; Back Pain; Pain; Neurologic Manifestations

Intervention Hierarchy (Ancestors)

Data Collection; Epidemiologic Methods; Investigative Techniques; Health Care Evaluation Mechanisms; Quality of Health Care; Health Care Quality, Access, and Evaluation; Public Health; Environment and Public Health

Study Officials

• Christelle NGUYEN, Dr

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

  PRINCIPAL INVESTIGATOR

Study Design

• Study Type: observational
• Observational Model: CASE CONTROL
• Time Perspective: CROSS SECTIONAL
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: November 15, 2021
• First Posted: November 17, 2021
• Study Start: February 11, 2022
• Primary Completion: September 12, 2022
• Study Completion: September 12, 2022
• Last Updated: September 12, 2025

Record last verified: 2025-09

Data Sharing

• IPD Sharing: Will not share

Locations

FR (1)