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Completed

NCT Number: NCT05123339

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

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. / Frequency of lumbar claudication 5. / 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).

1. / Average intensity of back pain measured on a self-administered digital scale (0 = no pain and 100 = maximum pain) 2. / Average intensity of radicular pain measured on a self-administered digital scale (0 = no pain and 100 = maximum pain) 3. / Activity limitations specific to the lumbar spine measured using the self-administered Oswestry Disability Index questionnaire (ODI, 0 = no limitations and 100 = maximum limitations) 4. / 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 ) 5. / 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)

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Key information

Conditions

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

Age range

18 year–55 year

Sex eligibility

All sexes

Study type

Observational

Primary location

CNMR Bichat

Paris, IDF, 75018, France

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • 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

Exclusion criteria

  • 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

Treatment and study plan

Questionnaire

Other

Questionnaire

Primary outcomes

  1. Frequency of spinal symptoms

    Time frame: Inclusion

    Frequency 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

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

    Time frame: Inclusion

    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)

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

    Time frame: Inclusion

    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)

  3. Oswestry Disability Index questionnaire (ODI, 0 = no limitations and 100 = maximum limitations)

    Time frame: Inclusion

    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)

  4. 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

    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 )

  5. 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

    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)

Sponsors and collaborators

Lead sponsor

Assistance Publique - Hôpitaux de Paris

Other

Collaborators

  • URC-CIC Paris Descartes Necker Cochin

Registry information

Official study title

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

Acronym: MARFANLOMB

Important dates

Study start
2022
Primary completion
2022
Study completion
2022
First posted
Nov 17, 2021
Registry last updated
Sep 12, 2025

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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